A single protein that appears necessary for the COVID-19 virus to reproduce and spread to other cells is a potential weakness that could be targeted by future therapies.

The molecule, known as transmembrane protein 41 B (TMEM41B), is believed to help shape the fatty outer membrane that protects the virus genetic material while it replicates inside an infected cell and before it infects another.

The latest finding comes from a pair of studies led by researchers at NYU Grossman School of Medicine and NYU Langone Healths Perlmutter Cancer Center, and colleagues at Rockefeller University and elsewhere.

Published in the journal Cell online December 8, 2020, the studies revealed that TMEM41B was essential for SARS-CoV-2 to replicate. In a series of experiments, researchers compared how the COVID-19 virus reproduces in infected cells to the same processes in two dozen deadly flaviviruses, including those responsible for yellow fever, West Nile, and Zika disease. They also compared how it reproduces in infected cells to three other seasonal coronaviruses known to cause the common cold.

Together, our studies represent the first evidence of transmembrane protein 41 B as a critical factor for infection by flaviviruses and, remarkably, for coronaviruses, such as SARS-CoV-2, as well, says the studies co-senior investigator John T. Poirier, PhD.

An important first step in confronting a new contagion like COVID-19 is to map the molecular landscape to see what possible targets you have to fight it, says Poirier, an assistant professor of medicine at NYU Langone Health. Comparing a newly discovered virus to other known viruses can reveal shared liabilities, which we hope serve as a catalog of potential vulnerabilities for future outbreaks.

While inhibiting transmembrane protein 41 B is currently a top contender for future therapies to stop coronavirus infection, our results identified over a hundred other proteins that could also be investigated as potential drug targets, says Poirier, who also serves as director of the Preclinical Therapeutics Program at NYU Langone and Perlmutter Cancer Center.

For the studies, researchers used the gene-editing tool CRISPR to inactivate each of more than 19,000 genes in human cells infected with each virus, including SARS-CoV-2. They then compared the molecular effects of each shutdown on the virus ability to replicate.

In addition to TMEM41B, some 127 other molecular features were found to be shared among SARS-CoV-2 and other coronaviruses. These included common biological reactions, or pathways, involved in cell growth, cell-to-cell communication, and means by which cells bind to other cells. However, researchers say, TMEM41B was the only molecular feature that stood out among both families of viruses studied.

Interestingly, Poirier notes, mutations, or alterations, in TMEM41B are known to be common in one in five East Asians, but not in Europeans or Africans. He cautions, however, that it is too early to tell if this explains the relatively disproportionate severity of COVID-19 illness among some populations in the United States and elsewhere. Another study finding was that cells with these mutations were more than 50 percent less susceptible to flavivirus infection than those with no gene mutation.

Poirier says more research is needed to determine if TMEM41B mutations directly confer protection against COVID-19 and if East Asians with the mutation are less vulnerable to the disease.

The research team next plans to map out TMEM41Bs precise role in SARS-CoV-2 replication so they can start testing treatment candidates that may block it. The team also has plans to study the other common pathways for similar potential drug targets.

Poirier adds that the research teams success in using CRISPR to map the molecular weaknesses in SARS-CoV-2 serves as a model for scientists worldwide for confronting future viral outbreaks.

References:

TMEM41B IS A PAN-FLAVIVIRUS HOST FACTOR by H.-Heinrich Hoffmann, William M. Schneider, Kathryn Rozen-Gagnon, Linde A. Miles, Felix Schuster, Brandon Razooky, Eliana Jacobson, Xianfang Wu, Soon Yi, Charles M. Rudin, Margaret R. MacDonald, Laura K. McMullan, John T. Poirier and Charles M. Rice, 8 December 2020, Cell.DOI: 10.1016/j.cell.2020.12.005

Genome-scale identification of SARS-CoV-2 and pan-coronavirus host factor networks by William M. Schneider, Joseph M. Luna, H.-Heinrich Hoffmann, Francisco J. Sanchez-Rivera, Andrew A. Leal, Alison W. Ashbrook, Jeremie Le Pen, Inna Ricardo-Lax, Eleftherios Michailidis, Avery Peace, Ansgar F. Stenzel, Scott W. Lowe, Margaret R. MacDonald, Charles M. Rice and John T. Poirier, 9 December 2020, Cell.DOI: 10.1016/j.cell.2020.12.006

Study funding was provided by National Institutes of Health grants R01 AI091707, U19 AI111825, R01 CA190261, R01 CA213448, U01 CA2133359, R01 AI143295, R01 AI150275, R01 AI124690, R01 AI116943, P01 AI138938, P30 CA008748, P30 CA016087, R03 AI141855, R21 AI142010, T32 CA160001. Additional funding support was provided by the G. Harold and Leila Y. Mathers Charitable Foundation, the BAWD Foundation, and Fast Grants.

Besides Poirier, another NYU Langone researcher involved in these studies is Andrew Leal. Other collaborators included study co-senior investigator Charles Rice and study co-investigators William Schneider, Joseph Luna, Heinrich Hoffman, Alison Ashbrook, Jeremie Le Pen, Inna Ricardo-Lax, Eleftherios Michailidis, Avery Peace, Ansgar Stenzel, Margaret MacDonald, Kathryn Rozen-Gagnon, Felix Schuster, Brandon Razooky, Eliana Jacobson, Xianfang Wu, and Soon Yi, at Rockefeller University in New York City; Francisco-Sanchez-Rivera, Scott Lowe, Linda Miles, and Charles Rudin, at Memorial Sloan Kettering Cancer Center in New York City; and Laura McMullen, at the U.S. Centers for Disease Control and Prevention in Atlanta.

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Potential Weakness in SARS-CoV-2 Discovered Single Protein Needed for COVID-19 Virus to Reproduce and Spread - SciTechDaily

-Funding from the Bill & Melinda Gates Foundation will support research to enable CRISPR/Cas9-based therapies for HIV that can benefit patients worldwide-

ZUG, Switzerland and CAMBRIDGE, Mass., Dec. 14, 2020 (GLOBE NEWSWIRE) -- CRISPR Therapeutics(Nasdaq: CRSP), a biopharmaceutical company focused on creating transformative gene-based medicines for serious diseases, today announced the receipt of a grant from the Bill & Melinda Gates Foundation to research in vivo gene editing therapies for the treatment of HIV.

While we have demonstrated the promise of CRISPR/Cas9 gene editing ex vivo in sickle cell disease and beta thalassemia, an in vivo approach to editing hematopoietic stem cells could allow the transformative benefit of CRISPR/Cas9 to reach a broader array of patients, including those in low resource settings that lack sufficient infrastructure for stem cell transplantation, said Tony Ho, M.D., Executive Vice President and Head of Research & Development at CRISPR Therapeutics. We look forward to working on new therapies that could contribute to the global effort to reduce the burden of HIV.

The grant builds upon CRISPR Therapeutics proprietary CRISPR/Cas9 gene editing technology and expertise in editing hematopoietic stem cells and contributes to efforts to accelerate transformative medicines for global health.

About CRISPR TherapeuticsCRISPR Therapeutics is a leading gene editing company focused on developing transformative gene-based medicines for serious diseases using its proprietary CRISPR/Cas9 platform. CRISPR/Cas9 is a revolutionary gene editing technology that allows for precise, directed changes to genomic DNA. CRISPR Therapeutics has established a portfolio of therapeutic programs across a broad range of disease areas including hemoglobinopathies, oncology, regenerative medicine and rare diseases. To accelerate and expand its efforts, CRISPR Therapeutics has established strategic partnerships with leading companies including Bayer, Vertex Pharmaceuticals and ViaCyte, Inc. CRISPR Therapeutics AG is headquartered in Zug, Switzerland, with its wholly-owned U.S. subsidiary, CRISPR Therapeutics, Inc., and R&D operations based in Cambridge, Massachusetts, and business offices in San Francisco, California and London, United Kingdom. For more information, please visit http://www.crisprtx.com.

CRISPR Forward-Looking StatementThis press release may contain a number of forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including statements made by Dr. Ho in this press release, as well as regarding CRISPR Therapeutics expectations about any or all of the following: (i) the expected benefits of CRISPR Therapeutics research funded by the Bill & Melinda Gates Foundation and (ii) the therapeutic value, development, and commercial potential of CRISPR/Cas9 gene editing technologies and therapies. Without limiting the foregoing, the words believes, anticipates, plans, expects and similar expressions are intended to identify forward-looking statements. You are cautioned that forward-looking statements are inherently uncertain. Although CRISPR Therapeutics believes that such statements are based on reasonable assumptions within the bounds of its knowledge of its business and operations, forward-looking statements are neither promises nor guarantees and they are necessarily subject to a high degree of uncertainty and risk. Actual performance and results may differ materially from those projected or suggested in the forward-looking statements due to various risks and uncertainties. These risks and uncertainties include, among others: uncertainties inherent in the initiation and completion of preclinical studies for CRISPR Therapeutics product candidates; availability and timing of results from preclinical studies; whether results from a preclinical trial will be favorable and predictive of future results of the future trials; uncertainties about regulatory approvals to conduct trials or to market products; that future competitive or other market factors may adversely affect the commercial potential for CRISPR Therapeutics product candidates; potential impacts due to the coronavirus pandemic, such as the timing and progress of preclinical studies; uncertainties regarding the intellectual property protection for CRISPR Therapeutics technology and intellectual property belonging to third parties, and the outcome of proceedings (such as an interference, an opposition or a similar proceeding) involving all or any portion of such intellectual property; and those risks and uncertainties described under the heading "Risk Factors" in CRISPR Therapeutics most recent annual report on Form 10-K, quarterly report on Form 10-Q, and in any other subsequent filings made by CRISPR Therapeutics with the U.S. Securities and Exchange Commission, which are available on the SEC's website at http://www.sec.gov. Existing and prospective investors are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date they are made. CRISPR Therapeutics disclaims any obligation or undertaking to update or revise any forward-looking statements contained in this press release, other than to the extent required by law.

CRISPR THERAPEUTICS word mark and design logo are registered trademarks of CRISPR Therapeutics AG. All other trademarks and registered trademarks are the property of their respective owners.

Investor Contact:Susan Kim+1-617-307-7503susan.kim@crisprtx.com

Media Contact:Rachel EidesWCG on behalf of CRISPR+1-617-337-4167reides@wcgworld.com

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CRISPR Therapeutics Receives Grant to Advance In Vivo CRISPR/Cas9 Gene Editing Therapies for HIV - GlobeNewswire

Compared to chimpanzees, our closest evolutionary cousins, humans are particularly prone to developing advanced carcinomas the type of tumors that include prostate, breast, lung and colorectal cancers even in the absence of known risk factors, such as genetic predisposition or tobacco use.

A recent study led by researchers at University of California San Diego School of Medicine and Moores Cancer Center helps explain why. The study, published December 9, 2020 in FASEB BioAdvances, suggests that an evolutionary genetic mutation unique to humans may be at least partly to blame.

At some point during human evolution, the SIGLEC12 gene and more specifically, the Siglec-12 protein it produces as part of the immune system suffered a mutation that eliminated its ability to distinguish between self and invading microbes, so the body needed to get rid of it, said senior author Ajit Varki, MD, Distinguished Professor at UC San Diego School of Medicine and Moores Cancer Center. But its not completely gone from the population it appears that this dysfunctional form of the Siglec-12 protein went rogue and has now become a liability for the minority of people who still produce it.

Compared to chimpanzees, our closest evolutionary cousins, humans are particularly prone to developing advanced carcinomas, even in the absence of known risk factors. A UC San Diego study found a potential explanation: Negative evolutionary selection has eliminated the Siglec-12 gene in two-third of the human population, yet for the remaining third, this gene has gone rogue, apparently doubling the risk of advanced cancer. Photo credit: Pixabay

Ajit Varki, who is also co-director of both the Glycobiology Research and Training Center and Center for Academic Research and Training in Anthropogeny, led the study with Nissi Varki, MD, professor of pathology at UC San Diego School of Medicine.

In a study of normal and cancerous tissue samples, the researchers discovered that the approximately 30 percent of people who still produce Siglec-12 proteins are at more than twice the risk of developing an advanced cancer during their lifetimes, compared to people who cannot produce Siglec-12.

Normally, genes that encode such dysfunctional proteins are eliminated by the body over time, and approximately two-thirds of the global human population has stopped producing the Siglec-12 protein. Where the gene still hangs around in humans, it was long thought be of no functional relevance, and there have been very few follow-up studies over the two decades since it was discovered. Meanwhile, chimpanzees still produce functioning Siglec-12.

When Nissi Varkis team set out to detect the Siglec-12 in non-cancerous tissue samples using an antibody against the protein, approximately 30 percent of the samples were positive, as expected from the genetic information. In contrast, the majority of advanced cancer samples from the same populations were positive for the Siglec-12 protein.

Looking at a different population of patients with advanced stage colorectal cancer, the researchers found that more than 80 percent had the functional form of the SIGLEC-12 gene, and those patients had a worse outcome than the minority of patients without it.

These results suggest that the minority of individuals who can still make the protein are at much greater risk of having an advanced cancer, Nissi Varki said.

The researchers also validated their findings in mice by introducing tumor cells engineered to produce Siglec-12. The resulting cancers grew much faster, and turned on many biological pathways known to be involved in advanced cancers, compared to control tumor cells without functioning Siglec-12.

According to Ajit Varki, this information is important because it could be leveraged for future diagnostics and treatments. The team got a jump start by developing a simple urine test that could be used to detect the presence of the dysfunctional protein, and we might also be able to use antibodies against Siglec-12 to selectively deliver chemotherapies to tumor cells that carry the dysfunctional protein, without harming non-cancerous cells, he said.

Additional co-authors of the study include: Shoib S. Siddiqui, Michael Vaill, Raymond Do, Naazneen Khan, Andrea L. Verhagen, Gen-Sheng Feng, UC San Diego; Wu Zhang, Heinz-Josef Lenz, University of Southern California; Teresa L. Johnson-Pais, Robin J. Leach, University of Texas Health Science Center; and Gary Fraser, Charles Wang, Loma Linda University.

Funding for this research came, in part, from the National Institutes of Health (grants R01GM32373, 5U01CA086402, T32GM008666 and DK007202).

Disclosure: Professor Ajit Varki is a scientific advisor to Mablytics Inc., a biotech startup which is developing immunotherapeutics directed against this novel Siglec target in solid tumors. Mablytics has also funded a related research collaboration with UC San Diego led by Nissi Varki.

Originally posted here:
Evolution May Be to Blame for High Risk of Advanced Cancers in Humans - UC San Diego Health

A new molecular probe from Stanford University could help reveal how our brains think and remember. This tool, called Fast Light and Calcium-Regulated Expression or FLiCRE (pronounced flicker), can be sent inside any cell to perform a variety of research tasks, including tagging, recording and controlling cellular functions.

Stanford researchers have developed and tested a new molecular probe, called Fast Light and Calcium-Regulated Expression or FLiCRE (pronounced flicker), which could help scientists map and control neural activity. (Image credit: Getty Images)

This work gets at a central goal of neuroscience: How do you find the system of neurons that underlie a thought or cognitive process? Neuroscientists have been wanting this type of tool for a long time, said Alice Ting, professor of genetics in the Stanford School of Medicine and of biology in the School of Humanities and sciences, whose team co-led this work with the lab of Stanford psychiatrist and bioengineer, Karl Deisseroth.

In proof-of-concept experiments, detailed in a paper published Dec. 11 in Cell, the researchers used FLiCRE to take a snapshot of neural activity associated with avoidance behavior in mice. By coupling the FLiCRE snapshot with RNA sequencing, they discovered that these activated neurons primarily belonged to a single cell type, which was inaccessible using genetic tools alone. They then used FLiCRE in combination with an opsin a protein for controlling neural activity with light developed by Deisseroth to reactivate those same neurons a day later, which led the mice to avoid entering a certain room. The brain region the researchers studied, called the nucleus accumbens, is thought to play an important role in human psychiatric diseases, including depression.

FLiCRE is made up of two chains of molecular components that respond to the presence of blue light and calcium. This light sensitivity allows the researchers to precisely control the timing of their experiments, and calcium is an almost-universal indicator of cell activity. To get FLiCRE inside a cell, the researchers package it, in two parts, within a harmless virus. One part of FLiCRE attaches to the cell membrane and contains a protein that can enter the cells nucleus and drive expression of whatever gene the researchers have selected. The other part of FLiCRE is responsible for freeing the protein under certain specific conditions, namely if the concentration of calcium is high and the cell is bathed in blue light.

Whereas existing tagging techniques require hours to activate, the FLiCRE tagging process takes just minutes. The researchers also designed FLiCRE so that they can use standard genetic sequencing to find the cells in which FLiCRE activated. This allows them to study tens of thousands of cells at once, while other techniques tend to require the analysis of multiple microscopic images that each contain hundreds of cells.

In one series of experiments, the researchers injected FLiCRE into cells in the nucleus accumbens and used an opsin to activate a neural pathway associated with avoidance behavior in the mice. Once the calcium in FLiCRE-containing cells spiked the cellular indication that the mouse is avoiding something the cells glowed a permanent red that was visible through a microscope. The researchers also sequenced the RNA of the cells to see which ones contained the fluorescent protein, producing a cell-by-cell record of neural activity.

One goal was to map how brain regions are connected to each other in living animals, which is a really hard problem, said Christina Kim, a postdoctoral scholar in genetics at Stanford and co-lead author of the paper. The beauty of FLiCRE is that we can pulse and activate neurons in one region and then record all of the connected downstream neurons. It is a really cool way to look at long-range brain activity connections.

In the next experiments, the researchers used the cellular activity map from the first experiments. They also adjusted FLiCRE so that the protein expressed the opsin protein, which can be controlled by orange light to alter neuronal activity. After activating FLiCRE in the cells, the researchers sent orange light through the fiber optic implant whenever the mice would enter a certain room. In response, the mice steered clear of that room, indicating that FLiCRE had indeed located cells in the brain that drive avoidant behavior.

The development and testing of FLiCRE combined chemistry, genetics, biology and neuroscience, and many specialties within those disciplines. As a result, the tool has a wide range of possible applications, including in cells outside the brain, the researchers say.

I moved to Stanford in 2016 with the hope of being able to carry out extremely interdisciplinary and collaborative projects such as this, said Ting. This project has been one of the most rewarding aspects of my move to Stanford seeing something this challenging and ambitious actually work out.

The researchers are now working on additional versions of FLiCRE, with a goal of streamlining the process. They are hoping to simplify its structure and also make it capable of working with other biochemical events, such as protein interactions or neurotransmitter release.

Mateo Snchez, a former postdoctoral scholar in the Ting lab, is also co-lead author of the paper. Additional authors are Paul Hoerbelt, Lief E. Fenno and Robert Malenka, the Pritzker Professor of Psychiatry and Behavioral Sciences, Director of the Nancy Pritzker Laboratory and Deputy Director of the Wu Tsai Neurosciences Institute. Deisseroth, is the D. H. Chen Professor, and a professor of bioengineering and of psychiatry and behavioral sciences; and a member of Stanford Bio-X and the Wu Tsai Neurosciences Institute. Ting is a member ofStanford Bio-X, the Maternal & Child Health Research Institute (MCHRI), theStanford Cancer Institute and the Wu Tsai Neurosciences Institute, and a faculty fellow ofStanford ChEM-H.

This research was funded by the Walter V. and Idun Berry Postdoctoral Fellowship Program, the EMBO long-term postdoctoral fellowship, the National Institute of Mental Health, Stanford Psychiatry, the Wu Tsai Neurosciences Institute, the National Institute on Drug Abuse, the Defense Advanced Research Projects Agency Neuro-FAST program, the NOMIS Foundation, the Wiegers Family Fund, the Nancy and James Grosfeld Foundation, the H. L. Snyder Medical Foundation, the Samuel and Betsy Reeves Fund, the Gatsby Foundation, the AE Foundation, the Fresenius Foundation and the Chan Zuckerberg Biohub.

To read all stories about Stanford science, subscribe to the biweeklyStanford Science Digest.

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Tagging, recording and replaying neural activity | Stanford News - Stanford University News

Contour Therapeutics Brings Together Leaders with Extensive Cardiovascular, Genetics and Drug Development Expertise

Partnership Focused on Delivering Targeted Therapies for Genetically Defined Cardiovascular Diseases

PALO ALTO, Calif. and SOUTH SAN FRANCISCO, Calif., Dec. 07, 2020 (GLOBE NEWSWIRE) -- BridgeBio Pharma, Inc. (Nasdaq: BBIO) and Maze Therapeutics today announced the establishment of a joint venture, Contour Therapeutics, focused on transforming and advancing breakthrough precision medicine approaches designed to treat cardiovascular disease, the leading cause of death worldwide.

This joint venture between two leading biotech companies unites Mazes genetically driven approach to drug discovery, as well as insights from its COMPASS platform, with BridgeBios expertise in cardiac drug discovery and clinical development. Together, the companies will focus on advancing genetically validated therapeutic candidates through clinical development and will initially work on the development of a treatment for patients with an undisclosed, genetically defined form of heart failure.

The new partnership builds on exciting progress underway to identify and target genetic causes of cardiovascular diseases, including BridgeBios precision medicine approach at its affiliate Eidos Therapeutics designed to treat transthyretin amyloidosis, an underdiagnosed and life-threatening cause of heart failure. The partnership also builds on seminal advances in the treatment of inherited cardiomyopathies, including at MyoKardia, a company co-founded by senior leaders at BridgeBio and Maze.

Cardiovascular disease is a deadly and widespread health problem across the world, but unfortunately, innovations in new treatment approaches have been limited, said Jason Coloma, Ph.D., CEO of Maze. Since we launched Maze, we have been focused on the advancement of our COMPASS platform, on which weve made important progress and gained confidence in the genetics we are focused on, as well as novel insights into how to best develop therapies for patients with cardiovascular disease. We are excited to join forces with BridgeBio, combining the unique talents and expertise across our respective teams, in order to deliver a profound impact on how these diseases are treated in the future.

We are privileged to be partnering with and learning from Maze. We are eager to build on BridgeBios work in precision medicine to treat cardiovascular disease, and we believe our joint venture with Maze holds great promise for patients as we bring together innovative leaders in cardiology and genetics, said Neil Kumar, Ph.D., founder and CEO of BridgeBio. The identification and targeting of genetically defined patient populations has created elegant and clinically meaningful medicines in oncology and other therapeutic areas. We feel strongly that one of the next frontiers in precision medicine lies in helping people suffering from cardiovascular disease, and we are excited to be on the front lines of advances in this field.

This partnership between Maze and BridgeBio will bring together many of the people who helped found and build revolutionary companies in cardiovascular drug development, said Charles Homcy, M.D., chairman of the Maze board of directors and lead director and chairman of pharmaceuticals of BridgeBio. With the combined expertise of these teams, we have an opportunity to create something special that has a profound impact on how patients with cardiovascular disease are treated in the future.

About the Maze COMPASS PlatformThe Maze COMPASS platform combines human genetics, functional genomics and data science to identify and prioritize drug targets for both rare and common diseases, validate drug targets and inform target tractability and clinical development. Maze aims to leverage COMPASS to translate a wealth of genetic opportunities generated by the platform into new therapeutics.

About Maze Therapeutics Maze Therapeutics is a biopharmaceutical company developing a broad portfolio of therapeutic candidates for a number of genetically defined diseases. Maze is focused on translating genetic insights into new medicines by utilizing an approach that combines the analysis of large-scale human genetics data, cutting-edge functional genomics and an array of drug discovery approaches. The Maze COMPASS platform reveals modifier genes that confer protection and provides deeper understanding of the target biology and how these targets can be best targeted with drug therapies. Maze was launched in 2019 by Third Rock Ventures, with funding from ARCH Venture Partners, GV, Foresite Capital, Casdin Capital, Alexandria Venture Investments, City Hill and other undisclosed investors. Maze is based in South San Francisco. For more information, please visit mazetx.com.

About BridgeBio Pharma, Inc.BridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio was founded in 2015 to identify and advance transformative medicines to treat patients who suffer from Mendelian diseases, which are diseases that arise from defects in a single gene, and cancers with clear genetic drivers. BridgeBios pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development. For more information visit http://www.bridgebio.com.

BridgeBio Pharma Forward-Looking StatementsThis press release contains forward-looking statements. Statements we make in this press release may include statements that are not historical facts and are considered forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended (the Securities Act), and Section 21E of the Securities Exchange Act of 1934, as amended (the Exchange Act), which are usually identified by the use of words such as anticipates, believes, estimates, expects, intends, may, plans, projects, seeks, should, will, and variations of such words or similar expressions. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act and are making this statement for purposes of complying with those safe harbor provisions. These forward-looking statements, including statements relating to Contour Therapeutics focus on transforming and advancing breakthrough precision medicine approaches designed to treat cardiovascular disease, the joint ventures focus on advancing genetically validated therapeutic candidates through clinical development and its initial work on the development of a treatment for patients with an undisclosed genetically defined form of heart failure, the partnerships ability to identify and target genetic causes of cardiovascular diseases and build on seminal advances in the treatment of inherited cardiomyopathies, the success of and potential synergies from the joint venture between Maze and BridgeBio, Contour Therapeutics development plans, competitive environment and clinical and therapeutic potential of therapies for patients with cardiovascular disease, reflect our current views about our plans, intentions, expectations, strategies and prospects, which are based on the information currently available to us and on assumptions we have made. Although we believe that our plans, intentions, expectations, strategies and prospects as reflected in or suggested by those forward-looking statements are reasonable, we can give no assurance that the plans, intentions, expectations or strategies will be attained or achieved. Furthermore, actual results may differ materially from those described in the forward-looking statements and will be affected by a number of risks, uncertainties and assumptions, including, but not limited to, Contour Therapeutics ability to focus on transforming and advancing breakthrough precision medicine approaches designed to treat cardiovascular disease, the timing and success of advancing genetically validated therapeutic candidates through clinical development and any such continued clinical development and planned regulatory submissions, and the success and potential synergies of the joint venture between Maze and BridgeBio, as well as those risks set forth in the Risk Factors section of BridgeBio Pharmas most recent Annual Report on Form 10-K, Quarterly Report on Form 10-Q and BridgeBio Pharmas other SEC filings. Moreover, BridgeBio Pharma operates in a very competitive and rapidly changing environment in which new risks emerge from time to time. Except as required by applicable law, we assume no obligation to update publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

Media ContactsMaze:Katie Engleman, 1AB katie@1abmedia.com

BridgeBio Pharma:Grace Rauh917-232-5478grace.rauh@bridgebio.com

Originally posted here:
BridgeBio Pharma and Maze Therapeutics Establish Joint Venture to Advance Precision Medicine to Treat Cardiovascular Disease - GlobeNewswire

CAMBRIDGE, Mass., Dec. 04, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that on Monday, Dec. 7, 2020 at 8:30 am Eastern Time (ET), it will host a webcast and conference call to present interim data from the MOMENTUM study, a multiple-ascending dose clinical trial of SRP-5051 for the treatment of Duchenne muscular dystrophy. SRP-5051 is the first investigational treatment using Sareptas next-generation PPMO platform, which is designed around a proprietary cell-penetrating peptide conjugated to Sareptas phosphorodiamidate morpholino oligomer (PMO) backbone with the goal of increasing drug concentration in muscle tissue.

The presentation will be webcast live under the investor relations section of Sarepta's website at https://investorrelations.sarepta.com/events-presentations and slides will be archived there following the call for one year. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary. The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 6382259. Please specify to the operator that you would like to join the "Sarepta-hosted Clinical Update for MOMENTUM call."

AboutSarepta Therapeutics At Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We routinely post information that may be important to investors in the 'Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc. Investors: Ian Estepan, 617-274-4052, iestepan@sarepta.com

Media: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

Link:
Sarepta Therapeutics to Share Clinical Update for SRP-5051, its Investigational PPMO for the Treatment of Duchenne Muscular Dystrophy - GlobeNewswire

LA JOLLA, Calif.--(BUSINESS WIRE)--DermTech, Inc. (NASDAQ: DMTK) (DermTech), a leader in precision dermatology enabled by a non-invasive skin genomics platform, announced today its inclusion in two CME sessions, at the Fall Clinical Dermatology Virtual Grand Rounds (the FCVGR) and the 23rd Annual Mount Sinai Winter Symposium Advances in Medical and Surgical Dermatology (the Mount Sinai Symposium).

The FCVGR presentation was led by Laura K Ferris, MD, PhD of the University of Pittsburgh Department of Dermatology on December 2. The Mount Sinai Symposium presentation was led by George Han, MD, Chairman of the Department of Dermatology at Mount Sinai Beth Israel, on December 4, 2020.

Fall Clinical Dermatology Virtual Grand Rounds

The co-directors of the Fall Clinical Dermatology Conference created the Virtual Grand Round series to help meet the continued need for CME accreditation during uncertain times and maintain the educational opportunities that would traditionally be available at an in-person conference.

Dr. Ferris led the CME presentation Gene Expression Profiling for Melanoma Diagnosis, during the Evolving Concepts in Dermatology Part XVIII, session of the FCVGR. The presentation is available for viewing here.

Dr. Ferris commented in her presentation, New clinical research demonstrates that 78% of lesions that are Pigmented Lesion Assay positive and therefore demonstrate genomic atypia in all cases, also have features of atypia or melanoma histopathologically.

Mount Sinai Winter Symposium

The Mount Sinai Symposium is specifically designed to equally update the practicing dermatologists, cosmetic surgeons and other healthcare professionals on the latest advances in medical and surgical dermatology.

Dr. Han, who serves as the Director of Teledermatology for the Department of Dermatology at the Icahn School of Medicine at Mount Sinai, led the CME presentation in the session Using Genomics for Melanoma Diagnosis.

Dr. Han commented: The current paradigm of evaluating pigmented lesions leaves much to be desired, both in our approach to lesions in clinical practice as well as in obtaining and evaluating biopsies for accurate diagnoses. There is great potential in using genomics to improve our approach to pigmented lesionsand with DermTechs Pigmented Lesion Assay, we can now offer our patients a non-invasive test that improves our current sensitivity towards diagnosing melanoma. That, combined with the fact that we can utilize telemedicine to bring this test into our patients' homes and potentially catch melanomas earlier, gives us the ability to finally make an impact on the diagnosis and mortality rate of melanoma.

About DermTech:

DermTech is the leading genomics company in dermatology and is creating a new category of medicine, precision dermatology, enabled by our non-invasive skin genomics platform. DermTechs mission is to transform the practice of dermatology through more accurate diagnosis and treatment, and the elimination of unnecessary surgery, leading to improved patient care and lower costs. DermTech provides genomic analysis of skin samples collected non-invasively using an adhesive patch rather than a scalpel. DermTech markets and develops products that facilitate the early detection of skin cancers, and is developing products that assess inflammatory diseases and customize drug treatments. For additional information on DermTech, please visit DermTechs investor relations site at: http://www.DermTech.com.

Forward-looking Statements

This press release includes forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. The expectations, estimates, and projections of DermTech may differ from its actual results and consequently, you should not rely on these forward-looking statements as predictions of future events. Words such as expect, estimate, project, budget, forecast, anticipate, intend, plan, may, will, could, should, believes, predicts, potential, continue, and similar expressions are intended to identify such forward-looking statements. These forward-looking statements include, without limitation, expectations with respect to: the performance, patient benefits, cost-effectiveness, commercialization and adoption of DermTechs products, including the Pigmented Lesion Assay, and the market opportunity therefor. These forward-looking statements involve significant risks and uncertainties that could cause the actual results to differ materially from the expected results. Most of these factors are outside of the control of DermTech and are difficult to predict. Factors that may cause such differences include, but are not limited to: (1) the outcome of any legal proceedings that may be instituted against DermTech; (2) DermTechs ability to obtain additional funding to develop and market its products; (3) the existence of favorable or unfavorable clinical guidelines for DermTechs tests; (4) the reimbursement of DermTechs tests by Medicare and private payors; (5) the ability of patients or healthcare providers to obtain coverage of or sufficient reimbursement for DermTechs products; (6) DermTechs ability to grow, manage growth and retain its key employees; (7) changes in applicable laws or regulations; (8) the market adoption and demand for DermTechs products and services together with the possibility that DermTech may be adversely affected by other economic, business, and/or competitive factors; and (9) other risks and uncertainties included in (x) the Risk Factors section of the most recent Quarterly Report on Form 10-Q filed by DermTech with the Securities and Exchange Commission (the SEC), and (y) other documents filed or to be filed by DermTech with the SEC. DermTech cautions that the foregoing list of factors is not exclusive. You should not place undue reliance upon any forward-looking statements, which speak only as of the date made. DermTech does not undertake or accept any obligation or undertaking to release publicly any updates or revisions to any forward-looking statements to reflect any change in its expectations or any change in events, conditions, or circumstances on which any such statement is based.

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DermTech's Melanoma Test Included in Two Continuing Medical Education (CME) Sessions at 2020 Fall Clinical Virtual Grand Rounds and Mount Sinai Winter...

Sarepta Therapeutics, Inc. (NASDAQ:SRPT) Evercore ISI HealthCONx Conference December 2, 2020 3:30 PM ET

Company Participants

Douglas Ingram - President, CEO & Director

Conference Call Participants

Maneka Mirchandaney - Evercore ISI

Maneka Mirchandaney

Great. Good afternoon, everyone. I'm Maneka Mirchandaney from the Evercore ISI biotech team. I am really pleased to be here with Sarepta. We've got Doug Ingram, who's its President and CEO; and Ian Esteban, who's SVP, Chief of Staff and Corporate Affairs. Thank you both so much for being here today. And Doug, to start -- just give us a broad sense for where Sarepta is now? And what the vision is for the next few years?

Question-and-Answer Session

A - Douglas Ingram

Sure. Thank you very much, and thanks for having us today. I mean if I started -- its most -- its broadest sense. We have to consider the fact we're a rare disease company focused on genetic medicine to treat disease and bring a better life to patients. There are 7,000 rare diseases that exist. 80% of them are single-gene mutations, which means they are really prime candidates for the intervention of genetic medicine. As we sit here today, only 5% of those diseases have any kind of therapy, and many of those therapies are merely palliative. And yet genetic medicine has made these extraordinary strides over the last couple of decades at least.

And it's time to start transforming that science into therapies that it can extend my life, I mean, I would say, as an example. 50% of rare diseases are children's diseases. And they're children's diseases because they don't -- children don't make it to adulthood with these horribly difficult, rare diseases. We are focused on -- right now, the rare disease were focused on is neuromuscular and neurological. Our lead therapies are attempting to bring a better life to patients with Duchenne muscular dystrophy, which is a disease characterized by the lack of this structural protein called dystrophin. And the lack of that causes the generation and inevitable death of children who have the Duchenne muscular dystrophy.

And then also an umbrella of diseases called limb-girdles. We have 6 different disease areas we're working under there, very similar to Duchenne, often children's diseases and far more often than not diseases that result in the early demise of these kids. We have a platform approach. We've got an approach -- an RNA approach, which is focused on literally editing messenger RNA to bring messenger RNA back in frame and make dystrophin for children who have Duchenne muscular dystrophy. I mean something that would have been science fiction 20 years ago, but really excited about that platform.

We've got a big focus on gene therapy. We have 27 programs in gene therapy. I think others might disagree, but we probably have the largest and most valuable platform and pipeline for gene therapy, 27 programs right now, with the leads in Duchenne muscular dystrophy and limb-girdle. And we have a Gene Editing Innovation Center, focused right now on CRISPR-Cas9. I think we all know about CRISPR-Cas9, and it's impact in the fact that a couple of pioneers just won the Nobel prize on that basis. And we've got of group in Durham, North Carolina under the auspices of just a brilliant scientist, Dr. Charlie Gersbach out of Duke University, working on that. And then we've got -- we've got 2 therapies that are approved for Duchenne muscular dystrophy, subpopulations. We'll have a third therapy, if we are fortunate, that will be approved early next year, in February of next year, to treat another 8% or so of those kids, bringing the total percentage of the population that could be treated to 30%.

And we're working right now, among a lot of other things, on a gene therapy for Duchenne muscular dystrophy, and we have a really important readout on that therapy early next year in the first quarter of next year on that therapy from a placebo-controlled and blinded study that we're working on.

Maneka Mirchandaney

Perfect. Clearly, DMD gene therapy is the main area of focus for the company broadly. But before we get more data there, we're going to get an update on your first PPMO program. So I wanted to actually start with that. Maybe you could just give us a quick sense for differentiation there and the first trial that you're running for 5051?

Douglas Ingram

Yes, it's great. So just apologies for the uninitiated. And then I apologize for those who are initiated and find this far too basic for them, but I will explain it. So we have this technology. This is a Morpholino technology and oligo technology that's brilliant. And we -- what we do with that technology is we don't find these concerts, we build them. This is really like a micro engineering project. We built them -- nucleic by acid -- by nucleic acid to essentially edit messenger RNA, put that back in frame and make dystrophin. And we do that very reliably, these therapies very reliably make dystrophin and they're very safe. But they have a limitation to it. This is not the final place we want to be with respect to Duchenne muscular dystrophy.

This will change the phenotype of children with Duchenne muscular dystrophy and bring a better life to them, but we want to fully transform kids with Duchenne muscular dystrophy. There's a reason why that cannot fully occur with our first technology, PMO, and that is they're very precise and they're very safe, but they're also neutrally charged molecules. They circulate in the system for only about 4 hours, which means that they get into cells inefficiently.

And so they get into cells enough to make some dystrophin to slow the progression of the disease. But if we could get more of that therapy into the cell, we would almost certainly have far more, what's called exon skipping in the dystrophin production and then a much better therapy for these kids that could more significantly transform them and extend their life and stop the degeneration, hopefully, or slow it down even greater than the current PMOs do.

That's the peptide-conjugated PMO concept. So what we've done -- the issue with the PMOs is that we since its neutrally charged and it leaves the body so quickly, if you just -- you could increase the dose of this PMO significantly, you are likely not going to do much more than, frankly, just give the kids a lot of infusion that they can't use because the therapy won't get into the cell.

The peptide that we use, which is a proprietary peptide, is positively charged, it drags the PMO, at least in animal models, it drags the PMO into the cells, the muscle cells, in much greater abundance, which will occur -- which will, at least in animals, creates far more exon skipping, far more dystrophin production. And that's where we are right now. Our first therapy, as you know, it's called 5051. It's focused on about 13% of the population that have mutations that are amenable to exon skipping 51. And we're in a multi-ascending dose trial right now.

The big issue for us, of course, is to ensure that we can continue to dose high because we're very confident about what we'll see if we can dose high enough without causing a safety signal that will stop our ability to continue to dose high with these children. And so the good news is that we've been able to dose already to 20 mg per kg, which is a very good dose, although we're not done yet. We're going to continue to dose through this.

And later this month, we will have an update where we'll, for the first time, provide an update on what we're seeing, most significantly on safety. What are we seeing? What are the lab results? Are we seeing the signals that would say that we can't dose any higher? Or that we've hit the highest dose we can get to? And we know what signals we're looking for, it's renal signals. And then we'll see as well what the tissue exposure looks like, are we seeing an increase in tissue exposure? Which would be certainly a strong indication that our mechanism of action works. And then we're going to look at exon skipping as well, which is a marker for the kind of dystrophin we might be able to make.

Maneka Mirchandaney

And so to your point, you said you'll definitely be showing the 20 mg per kg cohort. You recently announced you've gone higher to 30 mg per kg and potentially going even beyond that. How much data should we kind of expect in the upcoming readout later this month?

Douglas Ingram

Well, it's a small cohort. We don't think we've made the number of patients. But of course, it's a small cohort at each one of these dose levels. But it will be a very important readout because it will serve as, at least, the first step in our proof-of-concept that our PPMO can be a significant improvement over what already is the most significant therapy yet approved for Duchenne muscular dystrophy, which are our PMOs. And so the data that's most significant for us is going to be safety, labs, what are we seeing from a lab perspective, what are the signals, are there signals with respect to the labs that tell us that there is a -- that we're already near an upper end to how high we can dose? That's an important question.

And then what is the tissue exposure. Of course, we've seen it in animals over and over again, this increased tissue exposure, which would result in an increased efficacy, but are we seeing it already in patients. And then finally, exon skipping, of course, it's really important. Exon skipping is that process by which you edit the mRNA itself that would result in the dystrophin. You could see exon skipping even before you can see dystrophin. And so looking at exon skipping is a nice marker for dystrophin production.

Maneka Mirchandaney

Got it. I think as we think about this platform, differentiated ASO technology could be quite valuable. I think with your DMD gene therapy and PMO programs, it can be a little nuanced to think about exactly how PPMO grows the top line. Like, obviously, it's a technological improvement over the PMOs. But why was DMD the right place to look at here? And how should we think about -- if you do have a differentiated platform, where you'll go next with the technology?

Douglas Ingram

So first and foremost -- so we have a mission to serve patients who have rare diseases. Our -- the core of our current mission is to bring a better life to kids with Duchenne muscular dystrophy. And that's why you'll see that we're looking at that in every possible way we can. We even have the gene editing approach. Dr. Charlie Gersbach has been spending years looking at actually directly editing the human genome to potentially correct for and bring back into frame the gene that would result in dystrophin. So we -- one of the reasons we're looking at the PPMO for Duchenne muscular dystrophy is, it is central to our thesis for why we exist, to bring a better life to kids with Duchenne.

Second of all, we -- there is a real opportunity for -- as happy as we are with the PMOs and what they've been able to do for families with Duchenne muscular dystrophy. If we know the limitation that they have, and if we can solve for that limitation, we know what that could mean for kids who have Duchenne muscular dystrophy. I mean it might very well mean that we can stop talking about kids with this Duchenne muscular dystrophy and talk about adults and middle aged people with Duchenne muscular dystrophy. So we're excited about it for that reason.

Then you raise a really good question, which is, okay, that's fantastic. But you have this really exciting gene therapy, I hope you feel that way about our gene therapy. And if that's successful, is there a place in the world for both the PPMO and the gene therapy? And that's a great question. There's a couple of ways to look -- to think about that. First, of course, we're going to be pursuing everything at the same time without being so arrogant as to drop things while we're focusing, for instance, on gene therapy, as excited as we are about it.

But more than that, I think there will potentially be a significant place for the PPMO for Duchenne muscular dystrophy, even in the face of a transformative gene therapy, if gene therapy is transformative for a host of reasons. We already know that pretreating with a PPMO, at least in literature, and this wasn't ours, this was someone else's. Pretreating with a PPMO could actually enhance the benefits of gene therapy. So we know, as a pretreatment, it could be a real value.

We also know that, as it stands today, the science says that about 15% of kids are going to screen out of gene therapy because they're going to have preexisting neutralizing antibodies. And so there's going to be an opportunity for those kids to benefit from a PPMO, if they can't yet get gene therapy. We're trying to solve that limitation. But until we do, there's an opportunity for PPMO.

There's also going to be places around the world where gene therapy is not going to get yet to it, but the PPMO may be able to get to it. So there's a significant places around the world where, just from a pure access and reimbursement perspective, gene therapy may not yet be available, but the PPMO could be. And then finally, and we're doing the animal work on this now, and we don't have an answer to say that this is definitely the case, but this is the -- currently hypothesis.

There may very well be a world in which the best answer for children and then adults with Duchenne muscular dystrophy over the long term, is to get a significant onetime benefit from a gene therapy and then to have an ongoing benefit from an RNA and PPMO over time. So there's a lot of value there. And then finally, of course, if the PPMO is successful, we can take the PPMO to other rare diseases that could benefit from steroid blocking. That's the way our PMO technology works, and we'll certainly do that, and we're looking at that right now. But we need to get that proof-of-concept in Duchenne muscular dystrophy as a predicate to that.

Maneka Mirchandaney

Got it. Wanted to switch gears to 901, obviously, an extremely important update ahead. There have been a few recent updates on the regulatory and strategy side for this program. So maybe to start, just give us a sense for the recent updates on the manufacturing potency discussions that you had with the FDA? and where you, ultimately, landed on that? And then also on the decision to start Study 103 instead of 301 for now?

Douglas Ingram

That's great. So let me pull back for a second and talk about the things that we felt. From the beginning of this year, it was important for us to be able to establish as early next year as it's possible. And there really are broadly 3 things that we were focusing on. With respect to SRP-9001, which is our gene therapy for Duchenne muscular dystrophy. We wanted to show: number one, that the therapy that we have is efficacious, that it's transformative, that it's benefiting these kids; number two, that it's safe and well tolerated, an enormously important issue with respect to gene therapy; and number three, that the process that we're going to be using to release that therapy commercially, both in the United States and around the world, is substantially the same and performs in the same way as the clinical material that we were using for our trials up to the commercial material that we now have.

And so we've done a number of things in service of that goal. The first one is we started a trial some time ago called Study 102, that's a blinded placebo-controlled trial, 41-patient, 1-to-1 trial. And we'll have a readout for that early next year, in the first quarter of next year. And if we're successful, there's always the if there -- if we're successful, we'll have shown that the therapy is efficacious. And that it's safe and well tolerated in a well-controlled trial.

The second thing we needed to do as we were starting this year, is to get the commercial material done and released and then to start a trial that would allow us to confirm to ourselves and, hopefully, others as well, that the commercial material operates and acts the same way as the clinical material. We have lots of reasons to believe that it will. We've got tons of CMC that tells us that such is the case. The processes are not that different. They're both -- there's the same exact construct. They're both adherent mammalian processes, but it's a different process for scale up than for the clinical supply. And so we've got to show that the material acts the same way.

So we were sitting in the summer of this year in the midst of this pandemic. And we were going to start a large trial that we called Study 301, at least a larger trial, over 70-patient trial. It was going to be -- and it is. We're still going to do it. It's a global trial, multi-site study, multi-region study, placebo controlled as well.

And then we were also going to do a cut from that study for biopsies of about 10 patients. So that early next year, when that study was running, we would have study to show how the material itself acts, essentially the commercial -- what we call the commercial material validation study part of it. And what we realized in the summer of this year was that we'll be launching this large multi-center, multi-country trial right as the potential second wave of this pandemic is hitting. Of course, it wasn't hitting when we made that decision, but we were certainly worried about it. And unfortunately, for all of us, I think our worry is coming to fruition.

So in the summer, we divided that study into 2, the Study 301 and the Study 103. Study 301 is still multicenter, multi-country trial, which we'll start as soon as possible, by the way, early next year. But a leaner study to get the commercial material validated that was far less risky and more executable in the midst of a pandemic, it's a 10-patient open-label study using the commercial material.

We tracked into our meeting with the vision in early September with the FDA, and it was all on the papers. The FDA did -- was unable to give us a live meeting, and the FDA objected to a particular potency assay that we were using. They just objected to the approach that we were taking to our release assay for potency, not the data itself or the fact that it wasn't potent, but just the approach we were taking to approve that.

The danger of that or the risk there is that, that -- if you went through a formal process to get that resolved with the agency, given how busy the agency is and the vagaries of the formal process, this could take months or really significantly longer than months to get resolved. And one of the things one knows with respect to Duchenne muscular dystrophy is that time is not on the side of the children that we serve. We don't have time. Every single day, every night that a kid goes to sleep with Duchenne muscular dystrophy, they've been damaged by this disease. They've lost muscle that will not be brought back by our therapy. We can stop degeneration if our therapy is successful, but there's no thesis that we can bring it back.

So we've got to move faster. I'm really proud of the team. We moved sort of heaven and earth, and we have had a very cooperative FDA to work with, and we were able to get an informal meeting 2 weeks after that disappointing news in early September that kind of stopped the progress of our programs. And we went into that meeting with really 3 goals: goal number one, find out what the agency's concern is with this particular approach that we're taking to the potency assay. Don't argue about it, doesn't suggest that we're right, just find out what they think; and then number two, give them another assay that makes them -- that satisfies their issues. Solve their issues in that meeting. Don't solve it later, don't solve it in 3 or 4 months, try to solve it that day. And number three, go for what we can get from the meeting and go for something that we need most acutely, which is a commercial validation study, which is Study 103.

And I'm really proud of the team. We went into that meeting, a very short meeting, and came out with all 3 of those goals achieved. We understood what the agency is concerned with, what were -- we were able to propose an alternative approach. They accepted that alternative approach for purposes of Study 103. We proposed that we would start 103. They agreed that, that was acceptable. And of course, that's where we are right now, and we're tracking to that.

We will still start Study 301, but that'll happen next year. But the good news is that we have not been significantly delayed in the program and certainly before the end of the first half of this year -- of next year, we should have not only a readout on Study 102, by showing both function and safety, but we should have a readout on Study 103 showing the way this material performs, both from an expression and safety perspective.

Maneka Mirchandaney

So I guess COVID aside and then the rationale kind of makes sense, but COVID aside, could you hypothetically get Study 301 up and running now? Is there anything else needed from the FDA at all to kind of get that trial in place? And if you had to kind of guess, how much time do you think the 103 approach stays on the regulatory side in the U.S.?

Douglas Ingram

So on 301, we'd have to go back to the agency and talk to them and get their concurrence before we start 301. And we won't go back to them until early next year to talk about that. So we would like to see a quick readout on Study 103 and then commence 301 right around that time. So I don't know precisely when Study 301 will start, but I think it certainly should start in the first half of next year, certainly. And then we should get a readout on Study 103, certainly in the first half of next year. So we really are in good shape from a study perspective right now.

Maneka Mirchandaney

Got it. So just thinking about the up to 10 patients that you're going to be looking at in 103. I know you haven't spoken formally to the FDA about the bridging strategy approach and what they kind of want from those patients. But as we think about expression and variability, how wide can that range be? Like what did you see in Phase I for the 4 people who, obviously, did respond and were seeing expression? And how variable is it based on where you biopsy? And how do you kind of control for some of those elements as well to try to minimize other factors that could affect the variability beyond just the product being given?

Douglas Ingram

Yes. So first of all, we do see variability in expression. We have a 4-patient proof-of-concept study that was a predicate to our starting, what we call Study 102. And even in that study, we see variability. The good news is the variability is all in above that range that would be predicted to be therapeutically significantly beneficial. So the fact that there's variability doesn't surprise us. The good news is it's not like we saw some really middling expression and then some very good expression. It was all a gray and some was extraordinary.

So it's kind of all -- from our perspective, it was all in the great to very great level, but there's going to be variability. There's going to be a variability for a host of reasons. And it's unrelated to the product. This is all from the same [indiscernible], the same dose. It's a patient-driven perspective in one sense. This is -- again, the human eye is just a large organism, and you're trying to get gene therapy everywhere, and there's no reason to believe it's going to be exactly the same in every patient. It's going to act differently. And of course, then there are the vagaries of taking a biopsy. We don't -- you have a very good point. We get -- we take a single -- we take two biopsies and average them. And then that's the marker for what we've done.

The biopsies are extraordinarily intrusive, by the way. These children who submit themselves to these trials are heroes. I mean it is not a small thing to ask a person to get a biopsy, and oftentimes, these are open biopsies, where they lose muscle as a result of this, and that's the most precious thing for these children, let us remind ourselves, it's muscle, preserving muscle.

So it's a significant difference. You can't take -- you can't sample biopsy over many different muscles in these children. So you're going to see some variability just by the vagaries of when you happen to take or where you happen to take that biopsy. Even between the 2 blocks, when we take a biopsy, you will see some modest differences between those 2 blocks. So there will be some variability in the study, I would not be surprised at all. It's not the therapy's variability, it's not the manufacturing variability, it's patient variability.

And if you didn't know I would [indiscernible] if you didn't accept that variability, you'd have to say you couldn't do gene therapy for these kids because the children are variable. But the great news is that the expression we've seen so far has all been up in the significant therapeutic area, and the kids have responded that way. I think, the first 4 kids, all of them, regardless of the expression, they all had nice expression and some had really nice expression. All of them have benefited functionally across every measure, both at 1 year and even now at 2 years, they continue to improve versus baseline and natural history.

So what we want to see out of 103 is the same range of variability in 103 that we're seeing in 102. So it's not that -- we just want to see that they're in the same range. And then we want to see that the safety signals are the same, The safety and tolerability from the commercial supply looks the same as the clinical supply. And certainly, all of our CMC would lead us to believe that, that is going to be the case. We're very confident, not only have we done a lot of that work, but the work's come out very well in that regard. But now we'd like to also see it in biopsies.

Maneka Mirchandaney

Got it. Just based on time lines for 102, and when you kind of completed enrollment, it seems like it's potential -- potentially reasonably likely that you might get those results before you get the 103 results. In that situation, do you go to the FDA after 102, assuming it's positive and talk about the strategy then? Or kind of wait for the 103 results and go to them with the full package?

Douglas Ingram

Yes. It's a great question. It was an interesting debate internally on that exact topic. So you're right. We'll get the 102 results in the first quarter, and we'll get this -- the 103 results in the second quarter of next year. So there won't be a large delay between them, but there'll be a delay. And I think consistent with the philosophy that we've had for some time, and it's frankly a philosophy I'm very committed to, I want to go sit down with the agency when we have the data in hand, and that really means 102 plus 103. I think it's very difficult to ask a very busy -- and some would argue, and I think they would all argue, a very overburdened division right now to try to engage with you in theoretical discussions about what the data might look like when it comes out.

I would much rather have that discussion about the path forward when we have the data in hand, and hopefully, compelling data in hand, both from the commercial validation study and, of course, from the readout from 102, the clinical functional efficacy study. So we'll have that meeting after 103 reads out with the division.

Maneka Mirchandaney

Got it. And so if the bridging strategy works, with the current data package, you won't have tested 901 yet in the nonambulatory population. Do you think that, that might restrict at all the kind of label you get in terms of age range and ambulatory status until you kind of run some data in that population as well?

Douglas Ingram

Yes. It's extraordinarily important that we don't -- that we not limit this therapy to ambulatory patients. Let's just start. Let's start with that, the why of that. If all the kids with Duchenne muscular dystrophy are in need of a transformative therapy right this minute, but there is no group that feels that with a more compelling sense of urgency than the nonambulatory patient group. They don't have the time to wait. So we will start as soon as possible next year, a study on the nonambulatory patients. So that our goal is by the time we're made to get approved for this therapy, we have sufficient data to satisfy the division that our label should not be restricted to a particular age group, but that all ages should be amenable for this therapy. So that is our goal right now. We haven't started that study, but we want to start it as soon as possible next year so that we have these kids in scope when the therapy is approved.

Maneka Mirchandaney

Got it. You recently presented the 2-year update from -- on the Phase I study. And I think the data there was pretty compelling. The patients now are all kind of in the 6- to 8-year age range, which, at least, based on natural history, you'd kind of expect some to start declining. What do you think is reasonable to expect for year 3 and beyond for those patients? And how frequently do you think you'll kind of update that data set as well?

Douglas Ingram

Well, we'll eventually be updating it, but I've always tried to avoid updating that data set too aggressively while we're in the midst of a placebo-controlled trial for a host of reasons. I don't want to create the impression that we're out of equipoise or -- I also don't want to create the impression that we're trying to market these first for children. We're in a placebo-controlled trial. Regardless of what's going on with those children, the science is going to tell us what's happening when we open this blinded placebo-controlled trial.

Certainly, our goal, over time, is -- what we've seen right now is really exciting so far. Open-label for children, so we have to take that into consideration so we don't overread it. But as you know, across all functional measures, these kids have improved significantly over the period of time that they've been watched versus baseline, but equally significantly versus natural history. They're not performing like a Duchenne muscular dystrophy kid would be performing untreated. They -- on the NSAA, which they composites for, every kid was performing and significantly better than baseline. They were about 5.5 points better on a 34-point scale at 1 year, which was extraordinary. And that's all published in June of this year in JAMA Neurology.

And then we updated with the 2-year data, and the kids continued to improve. There were something like 7 points now in 2 years. They can't keep improving, of course, because there is a ceiling to the NSAA. What we really hope, over time, is that this is eventually causing stabilization in these kids, and where natural history would have these cases significantly degenerating now by the time they're 7 and 8 years old, that they're actually stable. And then if that such is the case, the delta would just continue to grow, showing that this therapy is bringing a much greater benefit to these kids and a better life to the kids with Duchenne muscular dystrophy.

Maneka Mirchandaney

Got it. On Study 102, I know you haven't given us all of the assumptions behind powering. But maybe just a quick overview on what you had pulled us for how well the trial is powered? And anything you kind of said on what you're assuming for effect size and [indiscernible]?

Douglas Ingram

Yes. So those are all great questions, some of which I'm not going to answer. I apologize for that. I've been very -- we've been a little cagey on the powering assumptions themselves for competitive reasons, obviously. I will say we were informed in the approach that we took, both by what we were seeing in Study 101 early days, but also our own knowledge of the natural history of children with Duchenne muscular dystrophy. And at least as of the start of this study, we were powered at over 90% at the study. Now that's exciting, but of course, as exciting as that might be, the real test is going to be when we unblind this and look at the data and produce it in early next year. But the good news is that it was robustly powered at its inception at over 90%. So that gives us some confidence.

Maneka Mirchandaney

Got it. So I guess, to your point, we kind of sit here, we see these NSAA plots, and I'm sure you've obviously seen them as well. But they're a little all over the place, but we're behind our desk. So we're looking at a sheet of paper, which is obviously not a reflection of patients in the real world. So maybe you can talk a little about why the extense of variability in the plots that we're looking at may not be an accurate representation of what we should expect from the patients that you've enrolled in 102? If there's enrollment criteria in place? Or anything like that, that really should bring down that new deviation?

Douglas Ingram

Yes, that's a great question. I mean, first of all, there will be variability among the kids. There is -- although the ultimate course of this disease is certain, there is variability year-over-year in the kids. And so there will be some variability in the powering of the study, presumed some variability in the study. So that, of course, is taken into account in the study -- hold just once one second. I'm going to -- I fear I'm going to lose you in a second from -- my headset maybe dying. Well, if it does, I'll stop and fix it.

But what we've tried to do in the design of the study is to reduce to the fullest extent possible, the amount of that variability. And I think we've done it in a number of very clever ways. One thing to start with is, we've excluded 2 phenotypes that we don't intend to exclude from the launch of this therapy or the label because those patients definitively need the solutions, and there's no reason why they wouldn't get them. But there is 2 groups, exon 44 amenable kids with an exon 45 deletion and exon 8 amenable kids with I think a 2 through 7 deletion. Those phenotypes are associated with a slower progression. It's still devastating, don't get me wrong, slower is relative, but their phenotype's slightly different. So we don't -- we didn't want them in the study for fear that, that might actually influence the results in a negative way.

We then limited this -- the population to 4- to 7-year-olds, so that we have a tight enough room that we can actually reduce variability. We then looked even more carefully. And one of the benefits of Sarepta over some others is that we've been doing this for a very long time. We have more patient-level data than I'm certain anyone else does in the industry, certainly. There are some academics, they have some great data as well, but in the industry, we certainly have the biggest data set of patient-level data and insight.

And actually, what we noticed is that 4 to 5 year olds are very similar to 6 to 7 year olds, but they're not identical. 4 to 5 year olds can actually gain a point up to maybe even 2 points in the course of the year. 6- to 7-year old, that's not going to happen. They're actually coming over the top, and they're declining, and they can actually decline pretty significantly.

So when we enroll the study, we make sure there's a balance between 4 and 5 and 6 and 7s on each side of the active and placebo arm as well. And then finally, we've got ceilings in the study and floors in the study so that you don't have outliers that are not trajecting like a typical Duchenne kid and might actually distort the results.

Even with that, there's going to be variability. But again, as I've said, we've accounted for that in our powering, and still we have powering at over 90%. But I do think this study has been as tightly controlled as -- really as reasonably possible to ensure that when this therapy is successful -- but there's 2 things about the therapy. It has to be transformative and successful, and we have to be able to see it in the trial. I mean those are actually, ironically, not as directly overlapping as it sometimes ought to be. And I think that we've done a very good job. The team has done a very good job of keeping this trial sufficiently tight that we should see the benefit that we're hoping for.

Maneka Mirchandaney

Can you remind us what the extent of the blinded data is that you guys get from the trial? Is it safety, efficacy, dose? And if it includes some read on efficacy, is there a way to kind of look at the data that you've got so far and have a sense for is this range of variability, obviously, not knowing if it's placebo or treated is in the range of what you would expect?

Douglas Ingram

Yes. First of all, I don't get any data on the study. So first start with me. I don't have any study. So you -- so I would take -- you might take my enthusiasm with a grain of salt because this is a blinded study. I have no insight on the efficacy or safety of this study. Other than this, there is a DSMB, and I believe also there is a group in the company monitoring safety to ensure there are untoward safety signals that would require a pause in the study. And certainly, the study has gone -- has moved to pace. So as it stands here right now, to the best of my knowledge, not being able to look at the placebo versus the active group, that we haven't seen any what are called SUSARs. We haven't seen any serious unexpected safety events that would require us to pause the study.

But beyond that broad signal, I haven't seen the data at all and nor has anyone else. We've been very careful to maintain this blind, of course, are assiduous about it so that the data that comes eventually from this study is going to have high integrity. So we're going to -- unfortunately, for all of us, we're going to have to wait and unblind this study and look at it together early next year.

Maneka Mirchandaney

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Sarepta Therapeutics, Inc. (SRPT) Presents at Evercore ISI HealthCONx Conference - (Transcript) - Seeking Alpha

Medicine is ever-evolving on a daily basis. Keeping track of the changes can be an almost-full-time job.Stacker looked at a number of medical journals and media sources to discover the biggest breakthroughs the year you were born, from 1921 to the current day.

From diseases that have been around for decades, such as diabetes and the flu, to cutting-edge tools like artificial intelligence and 3D printing, explore how medical and scientific professionals continually conduct research and clinical trials to improve the lives of patients. Sometimes advances arent immediately adopted, as with the Pap smearthat wasnt integrated into womens health care for 16 years after it was invented. But other times the path from laboratory to everyday use is much more abbreviated, like with insulin, which was used to treat diabetes only a year after it was discovered.

Another recurring theme in medical history is the repurposing of medicines that have worked for one disease in the past, to see how theyll work with another. A number of drugs and vaccines are being re-explored to manage COVID-19. Not all the heroes of medical research come from a traditional backgroundone was an electric engineer who worked for a major record label. Some were recognized with the highest honors, but others still have little visibility decades after their death. Funding for the research behind the breakthroughs is always a considerationsometimes it comes from foundations and government entities, but other times via donations from individuals and enterprises.

The dark side of medical history shown here includes unethical behavior by researchers in the past, which explains why some in the Black community arent exactly early adopters when it comes to clinical trials and new treatment options.

Advances noted here focus not only on the body, but also the mind. Explore this slideshow to see all the ways that health care has changed over the past century.

You may also like: Countries with the best life expectancy

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Medical history from the year you were born - Tulsa World

The insulation around nerve cell components in our corneas have unique properties, and little is known about them. But UConn School of Medicine neuroscience professor Royce Mohan believes his lab is on the verge of uncovering a path to better understanding that ultimately could lead to several vision-preserving advances.

Learning more about the cellular environment in the cornea, including what are known as glial cells that wrap around the nerve cells axons, could have implications for healing after surgeries and corneal transplants, as well as nerve regeneration, not just in the eyes but potentially in other systems of the body.

In a paper published in the Journal of Neuroscience Research, lead author Paola Bargagna-Mohan, assistant professor of neuroscience, details a method of characterizing every cell in the cornea using an approach known as single-cell RNA sequence analysis to answer questions about the corneas healing process. The study was done through a collaboration with Paul Robson, associate professor and director of single cell biology at The Jackson Laboratory for Genomic Medicine (JAX), which houses state-of-the art facilities for this type of research.

Going in we knew there would be challenges, says Bargagna-Mohan, a recipient of a UConn Research Excellence Program award. After several attempts, we were finally able to optimize our experimental approach to our advantage. I was extremely excited to get the funding from the UConn Vice President for Research at this critical time to drive this project.

A material known as myelin insulates axons of nerve fibers and enhances transmission of impulses among neurons. But nature has made the cornea an exception. Myelin in the cornea would interfere with light transmission. Therefore, the non-myelinating corneal Schwann cells, aptly called so because they do not produce myelin, are adapted to maintain corneal transparency, optimizing the focus of light on the retina, a crucial element of our vision.

This class of glial cells, better known as Schwann cells, have never before been isolated and characterized, Mohan says. So this is the first big step we took to help this field move forward in trying to repair the nerves of the cornea after surgeries, and also to understand corneal pain.The Mohan Labs single-cell RNA sequence analysis enables access to these cells to study them to an unprecedented extent.

All the genes that are expressed in each of the cells can be characterized, Mohan says. But not all cells are equal, even within a certain cell type, cells are never equal. And so cells that are sitting on the peripheral side of the cornea could be very different from the cells in the middle of the cornea. And by characterizing them, we can actually interpret that information to know what genes are expressed at the corner of the eye versus the one in the middle of the eye.

Mohan, who holds the John A. and Florence Mattern Solomon Endowed Chair in Vision Biology and Eye Research, says this method already has uncovered unique genes that are not expressed in Schwann cells of other tissues, which may eventually solve the mystery of how corneal Schwann cells function without interfering with light transmission.

He has a grant application pending with the National Eye Institute to continue his study of these unique cells and their role in nerve repair and sensory function.

When it comes to corneal transplants relatively common procedures throughout the world that would be even more common if there were enough donor corneas available to meet demand one of the associated risks is the recipient doesnt necessarily regain full sensory function of the eye. The corneal nerves hypersensitivity to foreign bodies is an evolutionary mechanism of injury prevention.

If you dont get the sensory function, you may accidentally touch your eye and injure your cornea, and that could be very traumatic for someone whos just had a corneal transplant, Mohan says, noting that donor corneas generally can be preserved for several days. We would be very interested to know how the Schwann cells survive in the existing donor tissue. Is there something we could do to enhance their survival into even higher levels? And, as well, after the operation is done?

Sensory function is also a consideration for those who undergo laser-assisted in-situ keratomileusis. Commonly known as LASIK, its a vision correction procedure in which the corneal axons are cut and the Schwann cells are injured.

They also get some side effects like burning sensation, gritty feeling, and the exact molecular mechanism of what causes it and how to help the tissue heal better is not known, Mohan says.

Another condition that could benefit from a better understanding of Schwann cells behavior is dry eye. While temporary dry eye is common, for some it can be a chronic condition in which the corneal nerves feel irritated.

Therapeutics are discovered by knowing which genes have to be activated or which ones have gone berserk that need to be subdued, Mohan says. What are these genes that are present in the Schwann cell doing when the cornea is injured? And from there, you ask the question, could you support nerve injury healing by either activating a gene or inhibiting something that has gone bad?

Better understanding of the Schwann cell genes and the proteins they encode could lead to, for example, a topical drop that could support wound healing by inhibiting these targeted proteins.

Continue reading here:
Unique Schwann Cells: The Eyes Have It - UConn Today

As colleagues at Seattle Childrens Hospital, Andy Scharenberg, M.D., and Michael Jensen, M.D., knew they wanted to build a startup with a mission.

Although cell therapies like Novartis Kymriah and Gileads Yescarta have transformed treatment for certain blood cancers, Scharenberg, a pediatric immunologist by training, was struck by the numbers of patients who cant get those treatments.

I wanted to create something where the impact would be absolutely the biggest possible swing you could take, he said.

That was the driving force behind the pairs decision to found Seattle-based Umoja Biopharma, which debuted Tuesday with a $53 million series A round. Scharenberg envisions Umoja, which means unity in Swahili, as a unification of three approaches developed by scientists at Seattle Childrens and Purdue University.

Umojas multipronged approach relies on three platforms used in sequence.

We're going to give you a first medicine that's going to grow a cancer-fighting cell army in your body, and then we're going to send that cancer-fighting army in your body messages telling it how to kill off your tumor, Scharenberg said.

That first medicine is VivoVec, which generates cancer-fighting CAR-T-cells inside the body, boosting the immune system. This approach is different to that of current treatments Kymriah and Yescarta, which require T cells to be extracted from patients, engineered outside the bodyand then given back to the patient to fight cancer. VivoVec doesnt need pre-conditioninga treatment used to clear a path for cell therapies to work but that tends to suppress the immune systemand it mimics the bodys own immune response, reducing the risk of cytokine release syndrome, a common side effect of CAR-T treatments.

RELATED: Avrobio tracks improvements in first patient treated with Gaucher gene therapy

After two weeks to allow for the number of T-cells to expand in the body, the patient would then receiveTumorTag, which binds to both tumor cells and the shields they use to hide from the bodys natural immune defenses. As its name suggests, the technology tags them as targets for the newly created army of T-cells.

Finally, the patient would receive RACR/CAR, which doctors can use to tune the activity of the engineered T cells in the body with the help of FDA-approved drugs. One of those drugs is rapamycin, an immunosuppressant.

Originally posted here:
Umoja banks $53M to develop triple-threat immunotherapies - FierceBiotech

ALISO VIEJO, Calif.--(BUSINESS WIRE)--Global Genes, a leading rare disease patient advocacy organization, announces eight award recipients of diverse backgrounds and experiences through its annual Champion of Hope Awards, recognizing exceptional leaders and their efforts to inspire, advance progress, and create positive change for rare disease patients worldwide.

The challenges facing the rare disease community are extraordinary, even in the most ordinary of times, and 2020 has tested the resilience and determination of all patients, caregivers, advocates, and leaders in rare disease. This year, Global Genes honors a set of inspirational leaders whom have made a difference despite the odds, to the benefit of patients and caregivers around the world.

Were proud and grateful to celebrate these remarkable champions for the rare disease community, who offer hope to so many, said Craig Martin, interim CEO of Global Genes. We all need a little extra to keep us going these days, and the stories of these leaders will inspire you, whether you are part of the rare disease community or not.

This year, the celebration recognized those who made a significant impact in advocacy, industry, medical care, science, as well as up-and-coming rare disease leaders. With more than a hundred nominees, these awardees were selected:

In addition, this year Global Genes is introducing a RARE Founders Award, honoring an individual for the founding of an impactful organization in the rare disease community. The inaugural recipient of this award is Nicole Boice, founder of Global Genes and cofounder of RARE-X, a nonprofit organization focused on enabling global sharing of rare disease patient data to accelerate diagnosis and progress toward rare disease treatments and cures.

Success for founders comes from the dedicated work of many, especially in rare disease, where collaboration and a team approach are critical, said Boice. I am honored to receive this first Founders Award, and am excited that it will become an award to recognize future recipients that have created value in rare disease by being a trailblazer, by recognizing holes, gaps, and needs and then doing something about it.

It is an honor to be recognized by Global Genes as a RARE Champion honoree, said Timothy Walbert, CEO of Horizon Therapeutics, an advocacy organization that supports rare and rheumatic conditions. I applaud all that the organization has done and continues to do for the rare disease community, and I look forward to our ongoing partnership to address the challenges in the community as well as celebrate its successes.

Alexis Levine said, As someone who has personally been affected by rare disease, I am so intrinsically motivated to further the research that I sometimes forget about the impact of my work. Thank you, Global Genes, for reminding me that I am a RARE Champion of Hope; it is such an honor to have received this award!

Global Genes is grateful for the support of event sponsors: Alliance for Regenerative Medicine, Ultragenyx, Taysha Gene Therapies, Ionis Pharmaceuticals, and Horizon Therapeutics.

For more information, visit http://www.globalgenes.org.

About Global Genes

Global Genes is a 501(c)(3) nonprofit organization on a mission to connect, empower, and inspire the rare disease community. We provide hope for more than 400 million people affected by rare disease around the globe. To date, weve educated millions of people in more than 100 countries about rare disease, equipped patients and advocates with tools and resources, and provided hundreds of thousands of dollars in support for innovative patient impact programs. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE, or visit the resource hub at Globalgenes.org.

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Global Genes Honors Leaders, Advocates, and Innovators in Rare Disease From Around the World at the 2020 RARE Champion of Hope Celebration - Business...

BOSTONNoting that the groundbreaking biotechnology could change the medical field forever, doctors at Boston Childrens Hospital told reporters Wednesday they were hopeful that gene editing would soon allow sick kids to have super weird pets. Thanks to promising advances in CRISPR technology, were more confident than ever that children with rare, incurable diseases could one day own a puppy with tentacles, a guinea pig with wings, or a goldfish with long beautiful hair, said chief of pediatric medicine Dr. Sophia Anderson, adding that the quality of life for ailing children could dramatically improve with even just a single visit from a giant, two-headed puppy or a three-eyed, snake with antlers that meows like a cat. Previously, these poor children were left to suffer with no hope of ever being able to live out their lives with a glowing lizard that can sing opera, or a bird with human hands instead of wings. But now, were just a few years away from every single one of them being greeted by a rainbow-colored rabbit that can speak perfect Spanish, and we could not be more excited. At press time, Anderson clarified that it would be a few years before any such treatment was used widely after a terrible accident where a sick child was inadvertently eaten by a horse with a sharks head.

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Medical Experts Hopeful That Gene Editing Will Soon Allow Sick Kids To Have Super Weird Pets - The Onion

CAMBRIDGE, Mass., Oct. 04, 2021 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today celebrated the grand opening of the Genetic Therapies Center of Excellence (GTCOE), its new research facility in Columbus, Ohio.

The 85,000 square foot state-of-the-art facility expands Sarepta’s research and development capabilities and footprint, which includes sites in Cambridge, Andover and Burlington, Mass. With more than 70 employees today and plans to double the number of employees by the end of 2022, the Center is focused on discovery, pre-clinical and clinical development supporting Sarepta’s pipeline of genetic medicines which includes RNA, gene therapy and gene editing programs. The Center also supports process development and optimization work that enables the transition from clinical-scale to commercial-scale manufacturing, a critical task facing companies developing gene therapies.

Advances in the science of genetic medicine are creating incredible opportunities to develop medicines with the potential to transform the lives of people with rare diseases. Sarepta’s Genetic Therapies Center of Excellence complements and enhances our existing research and development expertise and will play a central and strategic role in our future as the leader in precision genetic medicine,” said Doug Ingram, president and chief executive officer, Sarepta.

Among the guests joining the Sarepta team today for a dedication, ribbon-cutting ceremony and facility tours: The Honorable Jon Husted, Ohio’s Lieutenant Governor; Pat Furlong, president and chief executive officer, Parent Project Muscular Dystrophy (PPMD); Jessica Evans, assistant director, The Speak Foundation; local officials; and luminaries from Columbus’ growing biotechnology sector. At the event, Sarepta also announced a $20,000 donation to the Ronald McDonald House Charities of Central Ohio, with Dee Anders, chief executive officer and executive director, Ronald McDonald House Charities of Central Ohio, present to accept.

Sarepta has operated in Columbus since 2018 and we’re proud to be at the forefront of Columbus’ emergence as a leading hub for biotechnology committed to the local community and the patients and families we serve,” said Louise Rodino-Klapac, Ph.D., Sarepta’s Columbus-based executive vice president and chief scientific officer. Our growing presence in Ohio will help us strengthen our close working relationships with long-standing local partners such as Nationwide Children’s Hospital, while we work with the greatest urgency to advance our pipeline, further the science of genetic medicine and create an environment where future generations of scientific talent will thrive.”

Sarepta Therapeutics’ decision to expand in Ohio is the latest example that Ohio is a great state to grow a business,” said Lt. Governor Jon Husted. When we created the Columbus Innovation District last year, we were focused on cultivating the right environment in central Ohio to attract new investments and jobs in gene and cell therapy. This new facility is a victory, as it builds on our strategy, creating jobs and producing some of the most advanced research and development of precision genetic medicine, further solidifying Ohio as a leader in gene therapy.”

About Sarepta Therapeutics Sarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information We routinely post information that may be important to investors in the 'For Investors' section of our website at http://www.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Forward-Looking Statements This press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding potential opportunities in the rare disease space; the potential transformative benefits of medicines in the rare disease space; our plans to double the number of employees in Columbus, Ohio by the end of 2022; and the potential for our growing presence in Ohio to help strengthen our close working relationships with long-standing local partners while we work with the greatest urgency to advance our pipeline, further the science of genetic medicine and create an environment where future generations of scientific talent will thrive.

These forward-looking statements involve risks and uncertainties that may cause actual results to differ materially from those expressed or implied in the forward-looking statements. Many of these risks and uncertainties are beyond our control. Known risk factors include, among others: we may not be able to execute on our business plans and goals, including meeting our expected or planned regulatory milestones and timelines, clinical development plans, and bringing our product candidates to market, due to a variety of reasons, many of which are outside of our control, including possible limitations on company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover our product candidates; the impact of the COVID-19 pandemic; and those risks identified under the heading Risk Factors” in our most recent Annual Report on Form 10-K for the year ended December 31, 2020, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings we make, which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Company’s business, results of operations and the trading price of Sarepta’s common stock. For a detailed description of risks and uncertainties we face, we encourage you to review our SEC filings. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. We undertake no obligation to update forward-looking statements based on events or circumstances after the date of this press release, except as required by law.

Source: Sarepta Therapeutics, Inc.

Investor Contact: Ian Estepan, 617-274-4052 iestepan@sarepta.com

Media Contact: Tracy Sorrentino, 617-301-8566 tsorrentino@sarepta.com

Multimedia

Photos accompanying this announcement are available at

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Sarepta Therapeutics Opens Genetic Therapies Center of Excellence in Columbus, Ohio - Stockhouse

CRANBURY, N.J., Nov. 05, 2020 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a patient-dedicated global biotechnology company focused on discovering, developing and delivering novel medicines for rare diseases, today announced financial results for the third quarter ended September 30, 2020. The Company also summarized recent program updates and reiterated its full-year 2020 guidance.

John F. Crowley, Chairman and Chief Executive Officer of Amicus Therapeutics, Inc., stated, During the third quarter, we made tremendous progress advancing our mission for patients and are on track to achieve our 2020 key strategic priorities, including our global Fabry commercial launch, Pompe late-stage development program, and advancing our industry-leading gene therapy pipeline. Through these efforts, we remain strongly positioned to achieve our vision of delivering groundbreaking new medicines and hopefully, one day, cures for people living with rare diseases.

Corporate Highlights

Third Quarter 2020 Financial Results

1 Full reconciliation of GAAP results to the Companys non-GAAP adjusted measures for all reporting periods appear in the tables to this press release.

2020 Financial Guidance

2 A reconciliation of the differences between the non-GAAP expectation and the corresponding GAAP measure is not available without unreasonable effort due to high variability, complexity and low visibility as to the items that would be excluded from the GAAP measure.

Anticipated Milestones by Program

Galafold (migalastat) Oral Precision Medicine for Fabry Disease

AT-GAA for Pompe Disease

Gene Therapy Portfolio

About Galafold

Galafold (migalastat) 123 mg capsules is an oral pharmacological chaperone of alpha-Galactosidase A (alpha-Gal A) for the treatment of Fabry disease in adults who have amenable GLA variants. In these patients, Galafold works by stabilizing the bodys own dysfunctional enzyme so that it can clear the accumulation of disease substrate. Globally, Amicus Therapeutics estimates that approximately 35 to 50 percent of Fabry patients may have amenable GLA variants, though amenability rates within this range vary by geography. Galafold is approved in over 40 countries around the world, including the U.S., EU, U.K., Japan and others.

U.S. INDICATIONS AND USAGEGalafold is indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.

This indication is approved under accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

About Amicus Therapeutics

Amicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases. For more information please visit the companys website at http://www.amicusrx.com, and follow on Twitter and LinkedIn.

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Amicus Therapeutics Announces Third Quarter 2020 Financial Results and Corporate Updates - Citybizlist

ZUG, Switzerland and CAMBRIDGE, Mass., May 25, 2021 (GLOBE NEWSWIRE) -- CRISPR Therapeutics (Nasdaq: CRSP), a biopharmaceutical company focused on creating transformative gene-based medicines for serious diseases, today announced that members of its senior management team are scheduled to participate in the following virtual investor conferences in June:

Jefferies Virtual Healthcare ConferenceDate: Tuesday, June 1, 2021Time: 1:00 p.m. ET

William Blair 41st Annual Growth Stock ConferenceDate: Thursday, June 3, 2021Time: 12:20 p.m. ET

Goldman Sachs 42nd Annual Global Healthcare ConferenceDate: Tuesday, June 8, 2021Time: 3:00 p.m. ET

A live webcast of these events will be available on the "Events & Presentations" page in the Investors section of the Company's website at https://crisprtx.gcs-web.com/events. A replay of the webcasts will be archived on the Company's website for 14 days following each presentation.

About CRISPR TherapeuticsCRISPR Therapeutics is a leading gene editing company focused on developing transformative gene-based medicines for serious diseases using its proprietary CRISPR/Cas9 platform. CRISPR/Cas9 is a revolutionary gene editing technology that allows for precise, directed changes to genomic DNA. CRISPR Therapeutics has established a portfolio of therapeutic programs across a broad range of disease areas including hemoglobinopathies, oncology, regenerative medicine and rare diseases. To accelerate and expand its efforts, CRISPR Therapeutics has established strategic collaborations with leading companies including Bayer, Vertex Pharmaceuticals and ViaCyte, Inc. CRISPR Therapeutics AG is headquartered in Zug, Switzerland, with its wholly-owned U.S. subsidiary, CRISPR Therapeutics, Inc., and R&D operations based in Cambridge, Massachusetts, and business offices in San Francisco, California and London, United Kingdom. For more information, please visit http://www.crisprtx.com.

CRISPR THERAPEUTICS word mark and design logo are trademarks and registered trademarks of CRISPR Therapeutics AG. All other trademarks and registered trademarks are the property of their respective owners.

Investors:Susan Kim, +1 617-307-7503susan.kim@crisprtx.com

Media:Rachel Eides, +1-617-315-4493Rachel.Eides@crisprtx.com

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CRISPR Therapeutics to Participate in Upcoming Investor - GlobeNewswire

DUBLIN--(BUSINESS WIRE)--The "Cryopreservation Equipment Market Forecast to 2028 - COVID-19 Impact and Global Analysis by Type, Cryogen Type, Application, End User, and Geography" report has been added to ResearchAndMarkets.com's offering.

Freezers Segment to Contribute Major Share to Cryopreservation Equipment Market

Cryopreservation Equipment Market to reach US$ 11,255.02 million by 2028 from US$ 5,798.82 million in 2021; it is estimated to grow at a CAGR of 9.9%

The report highlights the trends prevailing in the market along with the market drivers and deterrents. The factors such as growing acceptance for regenerative medicine and increasing needs of biobanking practices drive the market growth. However, stringent regulatory requirements hinder the cryopreservation equipment market growth.

Cryopreservation plays an important part in the field of regenerative medicine as it facilitates stable and secure storage of cells and other related components for a prolonged time. Regenerative medicine enables replacing diseased or damaged cells, tissues, and organs by retrieving their normal function through stem cell therapy.

Owing to the advancements in the medical technology, stem cell therapy is now being considered as an alternative to traditional drug therapies in the treatment of a wide range of chronic diseases, including diabetes and neurodegenerative diseases.

Moreover, the US Food and Drug Administration (FDA) has approved blood-forming stem cells. The blood-forming stem cells are also known as hematopoietic progenitor cells that are derived from umbilical cord blood. The growing approvals for stem cell and gene therapies are eventually leading to the high demand for cryopreservation equipment. Following are a few instances of stem cell and gene therapies approved by the FDA and other regulatory bodies.

Based on type, the cryopreservation equipment market is segmented into freezers, sample preparation systems, and accessories. In 2020, the freezers segment held the largest share of the market, and it is expected to register the highest CAGR during 2021-2028. In ultracold freezers, liquid nitrogen is used for the successful preservation of more complex biological structures by virtually seizing all biological activities.

The COVID-19 pandemic has had a mixed impact on the cryopreservation equipment market. Restricted access to family planning services as well as diverted focus of people due to economic uncertainties and recession, and disturbed work-life balance have led to rise in egg and embryo freezing activities at fertility clinics during the pandemic.

As a result, the rising use of cryopreservation equipment is boosting the market growth. Furthermore, supply chain disruption caused due to congestion of ports and disturbances in other transport means has substantially affected the distribution of cryopreservation equipment and other accessories.

Market players are launching new and innovative products and services to maintain their position in the cryopreservation equipment market. In May 2021, Stirling Ultracold has been acquired by BioLife Solutions, Inc for cell and gene therapies and the broader biopharma market. In return for all of Stirling's outstanding shares, BioLife issued 6,646,870 shares of ordinary stock.

Key Market Dynamics

Market Drivers

Market Restraints

Market Opportunities

Future Trends

The report segments the global cryopreservation equipment market as follows:

By Type

By Cryogen Type

By Application

By End User

Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/tjgti5

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Global Cryopreservation Equipment Market Report 2021-2028 - Growing Acceptance for Regenerative Medicine & Increasing Needs of Biobanking...

Ezra Anpo (right), here with his sister Aria, participated in a research study investigating a liquid biopsy approach to providing a genetic diagnosis in children with lymphatic malformations.

Doctors at Seattle Childrens are investigating whether a simple liquid biopsy containing a small amount of fluid from a patient may someday provide an easier route to a genetic diagnosis in children with vascular or lymphatic malformations.

The work is a collaborative effort led by Dr. James Bennett, a clinical geneticist and co-director of the molecular diagnostic laboratory at Seattle Childrens and Dr. Jonathan Perkins, an otolaryngologist and director of the Seattle Childrens Vascular Anomalies Program. Liquid biopsy offers an alternative to the more invasive surgical biopsies required when a genetic, or molecular diagnosis, is needed to help guide a patients treatment.

We can now provide a specific genetic diagnosis for a lot of vascular malformations, Bennett said. Thats important for families for a variety of reasons with one being its just extremely healing and powerful to know the reason why your child has these differences.

Bennett adds that many of the genetic causes behind vascular malformations are in the same pathways involved in different adult cancers. Several drugs approved for cancer target these pathways by calming down overactive cell growth. A number of these drugs are already being tested in clinical trials for children with vascular malformations, but a genetic diagnosis is needed to determine if a child is a candidate for these studies.

A liquid biopsy offers a fast pass to get a specific molecular diagnosis without necessarily having to do a surgery on a child, Bennett said. If we can convert our research into a clinical grade test, we have the opportunity to potentially make a lot more kids eligible for the clinical trials investigating new drugs to treat vascular malformations.

Dr. James Bennett (left) and Dr. Jonathan Perkins (right) of Seattle Childrens.

Lymphatic malformations occur in about 1 in every 4,000 births when the tubes that carry lymph fluid throughout the body form abnormally. Most often, lymphatic malformations are in the head and neck, sometimes forming large fluid filled cysts. The vessels inside the cysts may shed their DNA into the surrounding fluid.

Bennett was interested in identifying alternative ways to make a genetic diagnosis in patients with vascular malformations without the need for surgery, and Perkins hypothesized that a little fluid taken directly from the cyst could provide enough DNA from the malformation to hunt for any genetic mutations.

When you take a fluid sample from a patient and you spin all the cells in a centrifuge, the cells go to the bottom and you get this layer of liquid on top, Bennett said. It turns out theres tiny little molecules of DNA, called cell-free DNA, that float around in that liquid. Its called cell-free because the DNA is not inside a cell. We can then analyze this cell-free DNA for mutations present in the patients malformation using genetic tests.

A paper published in Genetics in Medicine by Bennett, Perkins and others from Seattle Childrens Center for Clinical and Translational Research and Center for Developmental Biology and Regenerative Medicine used the liquid biopsy approach to identify genetic mutations in the cyst fluid cell-free DNA in patients with lymphatic malformations.

First, they tested the approach using a bank of vascular malformation patient tissue samples stored at Seattle Childrens in which the genetic diagnosis was already known. Liquid biopsy of cyst fluid cell-free DNA identified the previously known mutations in all seven lymphatic malformation samples. Prospective testing of cyst fluid cell-free DNA in lymphatic malformation patients who had never undergone surgery identified a genetic cause in four out of five of those enrolled in the study. The liquid biopsy did not find genetic mutations in the plasma from patients with lymphatic malformations but did find mutations in plasma from blood samples taken from patients with other types of vascular malformations.

This gives us the first proof of principle that we can detect genetic mutations using a liquid biopsy of cyst fluid from children with lymphatic malformations, Bennett said. This is significant because the procedure to draw the fluid from the cyst is much less invasive and complicated than surgically removing the tissue needed in the operating room.

Ezra was born with an extensive lymphatic malformation in his neck. His parents sought out Dr. Perkins for his expertise in treating vascular anomalies such as his.

Today, Ezra Anpo, 2, zooms around the room chasing his older sister. The fact he is living a normal childhood means everything to his parents, Chelsea Gillis and Hideki Anpo.

When Gillis was 20 weeks pregnant with Ezra, an ultrasound showed a concerning lymphatic malformation near his neck. The malformation continued to grow and at 28 weeks pregnant, his parents received a referral to see Perkins.

Ezra has a lymphatic malformation thats more extensive than most, said Perkins. Its location near the back of his tongue means that any significant inflammation could block his airway and send him to the hospital or into surgery.

On January 9, 2019, Ezra was born at the University of Washington Medical Center and was transferred immediately to Seattle Childrens Neonatal Intensive Care Unit (NICU). The team in the NICU stabilized Ezras breathing and supported his feeding while Seattle Childrens vascular anomalies care team determined a longer-term treatment plan.

Given the growing number of options available, Perkins wanted Ezra to undergo genetic testing to confirm his diagnosis and help guide his treatment. However, the standard approach of taking a biopsy from the malformation during a surgery also put Ezra at high risk of damaging his airway. If the airway became compromised, he would need a tracheostomy to breathe.

Ezra with his parents in Seattle Childrens NICU.

There was a lot of concern about doing any type of surgery that could cause an inflammatory reaction, which would most likely result in a tracheotomy, Gillis said. Both dad and I were adamant that we wanted to do everything possible to avoid a tracheostomy.

Perkins told the family about the liquid biopsy approach in development. Since he would only need to draw fluid from the cyst using a needle, it offered a significantly less invasive, and less complicated way to confirm Ezras genetic diagnosis.

The family agreed to move forward with the experimental test. Perkins took the fluid from Ezras cyst during a procedure to place a gastrostomy tube.

Shortly after, the family and Perkins had answers from the liquid biopsy: Ezra had a mutation in a gene called PIK3CA. Starting treatment with an immunosuppressant drug could provide initial benefit until he was old enough to potentially enroll in a clinical trial of a therapy that targets his mutation.

For now, the results of Ezras test are for research use only, though Bennett is hoping to develop a clinically available option in the near future.

Earlier this year, Bennett received a $2.5 million, five-year Research Project Grant (R01) grant from the National Institutes of Health to continue studying the use of cell-free DNA in larger numbers of patients with vascular malformations. Another area Bennett is excited to explore is whether the liquid biopsy could serve as a biomarker for patients receiving medication therapy.

Once a child is on a drug targeted to a specific mutation and youre trying to figure out if the drug is helping or not, you could potentially use this test to look for trends in the mutated DNA over time, he said. If levels of this DNA are trending down, it could indicate a drug is working.

As part of the research study, the liquid biopsy provided a genetic diagnosis for Ezra in a less invasive way than the standard surgical biopsy used to obtain a sample for genetic testing.

A precision diagnostic test developed by Seattle Childrens is already widely used in patient care. It is the only genetic testing panel certified for clinical use with vascular malformations at a childrens hospital.

The Vascular Anomalies Sequencing Panel, or VANseq, tests for mutations in 44 genes known to cause vascular anomalies. Doctors can use results from VANseq to make treatment decisions or help qualify patients for clinical trials. The advanced test currently accepts blood, saliva or tissue specimens obtained from the patient, but Bennett believes their research is on path to add testing with cell-free DNA to the clinical test.

There are labs doing clinical grade testing with cell-free DNA, mostly for cancer, Bennett said. We have more work to do to before the cell-free test for vascular anomalies is ready for clinical use, but Im confident well get there.

Beyond diagnostics, Seattle Childrens has long led advances to improve care for children with vascular anomalies. A collaborative team of physician-scientists work together to bring innovations such as glue embolization and facial mapping to the nearly 2,000 children the program sees each year.

With two clinical trials investigating the use of targeted therapies for vascular malformations already open at Seattle Childrens, Perkins sees an opportunity to move the field forward yet again.

Its completely shifting the paradigm of treatment of vascular malformations from surgery to medical therapy, Perkins said. We can get to the root of whats causing the malformation and using that information, develop new treatments that hopefully will be significantly more effective than what weve had to offer before.

Ezra celebrated his second birthday earlier this month.

The collaborative model embraced by Perkins, Bennett and the vascular anomalies team has helped Ezras parents feel supported through their sons hospitalization and ongoing care.

Im thankful because we took a good path with Ezra, Anpo said. The part I appreciate most is that it was a team effort. We were involved in the decision making and I felt like we got the information we needed from his whole medical team to guide us to the right decision.

Perkins estimates if Ezra had needed a tracheostomy, he would have had a much longer hospital stay upfront and then likely needed several trips to the operating room in his first two years of life. His mother is grateful they were given the option to avoid surgery and get a genetic diagnosis through the research study.

We are very appreciative that Dr. Perkins listened to us and really took our overall goals into account when making decisions about our sons care, she said. Were so fortunate. We havent needed any major surgeries, and Ezra is thriving. Hes fully oral besides his meds, his breathing is great and hes developing normally. Hes so full of life.

Related

Read more:
Liquid Biopsy Promising in Children With Vascular Malformations - On the Pulse

LONDON--(BUSINESS WIRE)--Ixaka Ltd, an integrated cell and gene therapy company focused on the natural power of the body to cure disease, launches today. The Companys shareholders have funded the business with over 40 million in financing.

Previously Rexgenero Ltd, a UK-based company pioneering the development of cell therapies to treat serious diseases such as cancer and chronic limb-threatening ischaemia (CLTI), the launch of Ixaka follows integration of its nanoparticle gene therapy business in France and a shareholder restructuring.

The new business will continue to develop Ixakas proprietary technologies concentrated multi-cell therapies (MCTs) and targeted nanoparticle (TNP) therapeutics. Ixakas technologies enhance the naturally therapeutic power of cells by targeting curative cells at the site of disease, or by directly modifying cells within the body to improve disease targeting and boost their restorative function.

Joe Dupere, CEO of Ixaka, commented: Ixakas broad offering of integrated cell and gene therapy capabilities, encompassing cell-based products and an innovative in vivo gene delivery platform, provides a strong foundation for our ambitions to become a leader in cell and gene therapies. Our focus is now on accelerating progress to help realise the potential for durable and curative cell and gene therapies. By exploring multiple therapies across oncology and cardiovascular, genetic, neurological and autoimmune diseases, we are well positioned to bring life-changing treatments to multiple patient populations with critical unmet needs.

REX-001, Ixakas lead MCT product, is an autologous cell-based product in clinical development for the treatment of CLTI. REX-001 is currently being evaluated in the pivotal Phase III SALAMANDER clinical trial at multiple sites across Europe.

Ixakas polymeric nanoparticle platform can be used to perform genetic modifications directly inside a patients body. The platform enables in vivo targeting and transduction of T cells, and is currently being applied to generate chimeric antigen receptor (CAR) T-cell therapies in vivo for haematological malignancies. Modifications of the components will allow the technology to target a broad range of serious diseases, including cancers and genetic, neurological and autoimmune diseases.

A total of $15.4 billion was raised in the first half of 2020 for the development of cell and gene therapies, with 1,078 regenerative medicine and advanced therapy clinical trials ongoing worldwide1.

References1. https://alliancerm.org/sector-report/h1-2020-report/

ENDS

About Ixaka

Ixaka is a cell and gene therapy company focused on using the natural powers of the body to cure disease.

Ixakas proprietary technologies enhance the naturally therapeutic power of cells by increasing the presence of curative cells at the site of disease, or by directly modifying cells within the body to improve disease targeting and boost their restorative effect.

Ixakas technologies concentrated multi-cell therapies and nanoparticle therapeutics demonstrate potential for the treatment of a broad range of serious diseases across oncology, cardiovascular, neurological and ocular diseases, and genetic disorders.

Ixaka has offices in London, UK with R&D and manufacturing operations in Seville, Spain and Paris, France and additional manufacturing capability in Frankfurt, Germany.

For more information, please visit http://www.ixaka.com

Connect with us: Twitter: https://twitter.com/ixaka_Ltd; LinkedIn: https://www.linkedin.com/company/ixaka-limited/

About Ixakas multi-cell therapies

Multi-cell therapies (MCT) are derived from natural tissue extracts which are selected for the most active cells, removing components (such as red blood cells and platelets) that potentially reduce the activity of therapeutic cells. Our first MCT is REX-001, which is currently in a multi-site Phase 3 clinical trial for chronic limb-threatening ischemia (CLTI).

Ixakas REX-001 MCT consists of a combination of progenitor cells and immune cells (lymphocytes, monocytes and granulocytes) which are selected and concentrated from a patients own bone marrow and administered directly to the site of occluded blood vessels in the lower leg. Locally administered REX-001 acts to regenerate blood vessels (through both direct and indirect paracrine mechanisms), modulate immune responses, improve blood flow, improve tissue oxygenation, and promote wound healing. These effects lead to a significant improvement in clinical outcomes and quality of life through complete ulcer healing and alleviation of chronic ischemic rest pain.

About Ixakas in vivo gene delivery technology

Ixakas targeted nanoparticle (TNP) therapeutic is a platform which enables therapeutic cells to be targeted and genetic modifications to be performed directly inside the body. The first application is in the generation of chimeric antigen receptor (CAR) T-cell therapies for haematological malignancies. Modifications of the components however allows the technology to target a broad range of therapeutic cells for the treatment of many serious diseases including cancers, genetic disorders, neurological, autoimmune and ocular diseases.

The TNP in vivo gene delivery approach enables targeting of specific cells and expression of the gene of interest directly in the patient. The technology is also targeted and controllable offering potentially improved efficacy and safety. Generation of enhanced therapeutic cells through genetic modification inside the body also enables more standardized manufacturing which is less expensive as it does not require costly dedicated manufacturing sites needed to expand cells before use (as is required for ex vivo cell therapies).

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Ixaka (formerly Rexgenero) Launches as an Integrated Cell and Gene Therapy Company - Business Wire

Alison brings significant experience in guiding companies through all stages of drug development and ultimately to commercialization, which are key areas of expertise that will benefit us as we advance toward becoming a clinical-stage gene therapy company, said Tom Anderson, Chief Executive Officer of SwanBio. We are honored to add Alison to our Board of Directors, to support our goal of bringing life-changing treatments to people living with devastating neurological conditions.

I am delighted to join the team at SwanBio at this inflection point in their development as they progress their gene therapy product candidates for patients with neurological diseases, said Ms. Lawton. I look forward to working with the SwanBio team as they advance their programs into the clinic and expand on their platform to help the many patients who remain in need of new treatment options.

Ms. Lawton has more than 30 years of experience in the biopharma industry, most recently serving as the Chief Executive Officer, President and Member of the Board of Directors of Kaleido Biosciences from 2017 to 2020. Prior to joining Kaleido, she was Chief Operating Officer at Aura Biosciences, and previously held the same role at X4 Pharmaceuticals and OvaScience. Ms. Lawton spent more than 20 years at Genzyme Corporation and subsequently at Sanofi, following its acquisition of Genzyme. She served as Senior Vice President and General Manager of Sanofi Biosurgery, a $750 million business that included surgical, orthopedics, cell therapy and regenerative medicine franchises. Earlier, as SVP of Global Market Access for Genzyme, Ms. Lawton led global functional organizations, including regulatory affairs, quality systems, public policy, health outcomes and strategic pricing, product safety and risk management. Additionally, Ms. Lawton worked for seven years at Warner-Lambert/Parke-Davis in the U.K. She previously served two terms as the industry representative on the Food & Drug Administrations Cell & Gene Therapy Advisory Committee and as Chairman of the Board of the Regulatory Affairs Professional Society (RAPS). She is currently an independent Director of ProQR Therapeutics, X4 Pharmaceuticals, Aeglea Biotherapeutics and Magenta Therapeutics. Ms. Lawton earned her Bachelor of Science degree in Pharmacology from Kings College London.

About SwanBio Therapeutics

SwanBio Therapeutics is a gene therapy company that aims to bring life-changing treatments to people with devastating, genetically defined neurological conditions. SwanBio is advancing a pipeline of AAV-based gene therapies, designed to be delivered intrathecally, that can address targets within both the central and peripheral nervous systems. This approach has the potential to be applied broadly across three disease classifications spastic paraplegias, monogenic neuropathies and polygenic neuropathies. SwanBios lead program is being advanced toward clinical development for the treatment of adrenomyeloneuropathy (AMN). For more information, visit SwanBioTx.com.

View source version on businesswire.com: https://www.businesswire.com/news/home/20210119005014/en/

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SwanBio Therapeutics Appoints Alison Lawton to Board of Directors - BioSpace