Category Archives: Transhuman News

When Dr. Sharl Azar first entered medicine he noticed something disturbing almost immediately.

I watched as a young man whose overwhelming pain still managed to betray his stoicism, was told by the physician who was caring for him in the (emergency department) that hed received all of the Dilaudid he was going to get for today and that he should go get his fix somewhere else, he said.

Azar, medical director at Massachusetts General Hospitals Comprehensive Sickle Cell Disease Treatment Center, has worked since to combat suffering and stigma caused by those who suffer from that disease, and, on Tuesday, he was asked to speak at the opening of a new, state-of-the-art cell and genetic therapy center in the citys Seaport neighborhood where that work will continue.

Vertex is allowing our center to bring our patients the world-class care that they have long been denied, he said.

Azar spoke as Vertex Pharmaceuticals, a Boston-based biotechnology company, officially opened their new corporate headquarters along Northern Avenue, where the drug developer will work hand in hand with hospitals like MGH to continue genetic research into the causes and hopefully the cure for diseases like sickle cell.

Called the Jeffrey Leiden Center for Cell and Genetic Therapies, the over 250,000-square-foot facility research and development facility includes 453 workspaces and 21,000 square feet of manufacturing space.

According to Leiden, Vertexs executive chairman, the facility represents the future in the fight against serious chronic disease.

I hope you can imagine a day when lifesaving cell and genetic therapies for many serious diseases sickle cell, diabetes, muscular dystrophy are being discovered, developed, manufactured and brought to patients by Vertex scientists and physicians working in this buildingI promise you that day is not very far away, Leiden said.

Gov. Charlie Baker was due to speak at the event but canceled his public appearances for the day after falling ill. Baker has tested negative for COVID-19, a spokesperson told the Herald.

Lt. Gov. Karyn Polito, who serves on the states STEM Advisory Council with Leiden, stepped in to open the facility on Bakers behalf.

This is a very proud moment, she said. Not just for the Leiden family and the Vertex team, but certainly for the city of Boston and for the commonwealth of Massachusetts.

Dr. Reshma Kewalramani, Vertex CEO, also announced the company would further expand into the Seaport with another research facility just across the street. She said the company will use the spaces to help solve serious medical problems.

Its going to happen. It may not happen tomorrow, but its going to happen in our lifetime, she said.

Continued here:
Bostons Seaport gets new cell and gene therapy research center, more to come - Boston Herald

NEW YORK, May 17, 2022 /PRNewswire/ -- SCRIPT BIOSCIENCES INC, a biotechnology company developing curative therapies using a novel gene editing platform (CasPlus), and NYU Grossman School of Medicine, presented a poster titled "Enhancement of Predictable and Template-free Gene Editing by the Association of CAS with DNA Polymerase" at the 25th annual American Society of Gene & Cell Therapy meeting in Washington DC (May 16-19, 2022). Highlights of the data include:

Dr. Chengzu Long, Principal Investigator and Assistant Professor, Division of Cardiology and The Helen and Martin Kimmel Center for Stem Cell Biology, NYU Grossman School of Medicine, said, "CRISPR/Cas9-mediated on-target DNA damage is an underappreciated risk factor for safe application of genome editing tools. While numerous approaches have already been developed to reduce well-known off-target effects of CRISPR-mediated editing, the CasPlus system prevents CRISPR-mediated collateral on-target large deletions and thus offers the promise of safer therapeutic gene editing in humans."

Anil Namboodiripad, Ph.D., CEO of Script Biosciences said, "We are encouraged by this data and it is a step forward in our mission to develop lasting cures for patients suffering from serious diseases. In vivo translational studies in humanized mouse models are ongoing. We plan to advance our lead program in DMD towards IND-enabling studies, while also expanding our pipeline to other gene targets".

About Script BiosciencesScript Biosciences (www.scriptbiosciences.com) is an early stage biotechnology company committed to developing safe, efficient, and durable cures for genetic diseases with few or no treatment options using our proprietary CasPlus genome editing platform (CasPlus). CasPlus corrects mutations by predictable and efficient insertion of base pairs. The superior precision of CasPlus paves the way towards safer genome editing in humans. The technology was developed at New York University with a worldwide license granted to Script.

SOURCE Script Biosciences Inc

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PALO ALTO, Calif., May 17, 2022 /PRNewswire/ --Genascence Corporation ("Genascence"), a clinical-stage biotechnology company revolutionizing the treatment of prevalent musculoskeletal diseases with gene therapy, today announced that additional safety data from the Phase 1 clinical trial of GNSC-001 for the treatment of osteoarthritis (OA), including 12-month follow-up on all subjects, demonstrated that it was safe and well tolerated. These data will be delivered in a poster presentation today at theAmerican Society of Gene& Cell Therapy's(ASGCT) 25th Annual Meeting being held virtually and in-person May 16-19, 2022, in Washington, D.C.

GNSC-001 is the company's lead program in OA. GNSC-001 is a genetic medicine a recombinant adeno-associated vector (AAV) carrying a coding sequence for interleukin-1 receptor antagonist (IL-1Ra), a potent inhibitor of interleukin-1 (IL-1) signaling. IL-1 is considered one of the key mediators involved in the pathogenesis of OA, causing inflammation as well as cartilage destruction. GNSC-001 is designed to offer long-term, sustained inhibition of IL-1 following a single injection into the affected joint.

"Osteoarthritis is incapacitating, causing years of pain and disability for people living with the disease. Further, patients have limited treatment options, and nothing is currently available that is able to slow down progression of OA," said Thomas Chalberg, Ph.D., founder and CEO of Genascence. "We are excited by these findings as they demonstrate the initial safety of GNSC-001 and provide encouraging data to pursue GNSC-001 as a novel treatment for OA patients. We look forward to advancing the clinical program for GNSC-001 so that we can deliver transformative results for patients suffering from this disabling disease."

Title:A Phase I Trial of Osteoarthritis Gene Therapy (NCT02790723)Date:May 17, 2022 5:30-6:30 PM ETSession: Gene and Cell Therapy Trials in ProgressAbstract Number: 799Location: Walter E. Washington Convention Center, Hall DPresenter: Christopher H. Evans, Ph.D.

In this investigator-sponsored Phase 1 single-arm, open-label, dose-escalation clinical trial of GNSC-001, a total of nine subjects with knee OA were enrolled and monitored for one year. Three subjects were treated in each of three cohorts, receiving either 1x1011 vg, 1x1012 vg, or 1x1013 vg GNSC-001 delivered by intra-articular injection. The primary endpoint is safety and tolerability. Additional measures include levels of circulating viral genomes, immune response to the vector, blood and urine analysis, and physical examination. Although the study was not powered for efficacy and had no control group, patients reported pain via VAS (0-10) and pain and function via WOMAC. Knee joints were imaged by X-ray and MRI upon study entry and after one year.

Results showed that intra-articular injection of GNSC-001 produced no severe adverse events; blood chemistries and hematologies remained normal during the 12-month follow-up period with no evidence of neutropenia. There were no vector-related adverse events in eight of the nine subjects; one subject experienced a mild/moderate knee effusion following injection which resolved with ice and rest. Clinical trial participants developed various degrees of anti-AAV neutralizing antibodies after injection of GNSC-001, as seen in preclinical studies. Small amounts of viral genomes were found in peripheral blood, beginning one day after injection and clearing within four weeks. Injection of GNSC-001 was associated with increased concentrations of IL-1Ra in synovial fluid, which remained elevated after 12 months of follow up. Pain and function scores improved following injection of GNSC-001.

"These additional data from the Phase 1 trial of GNSC-001 in patients with osteoarthritis showed that it safe and well tolerated including after one year," said Dr. Evans. "These results are encouraging as we believe this therapy has the potential to reduce structural disease progression in osteoarthritis patients."

The study was supported by funding from the U.S. Department of Defense Peer Reviewed Medical Research Program (PRMRP). More information is available at https://clinicaltrials.gov/ct2/show/NCT02790723.

Abstracts can be accessed via the conference website at annualmeeting.asgct.org.

About Osteoarthritis (OA) of the Knee

Osteoarthritis (OA), or degenerative joint disease, is the leading cause of disability. It is characterized by destruction of cartilage and structural changes in bone within the joint, which contribute to pain and loss of joint function. Osteoarthritis affects more than 30 million Americans and is increasing as a result of the aging population and increasing prevalence of obesity. Osteoarthritis represents a major economic burden, owing to direct medical costs and loss of productivity. Each year, millions of patients are treated for knee OA with NSAIDs, opioids, and steroid injections into the knee to manage their knee pain. There are no currently available therapies known to alter or slow down OA progression.

About Genascence Corporation

Genascence, a clinical-stage biotechnology company revolutionizing the treatment of prevalent musculoskeletal diseases with gene therapy, is developing life-changing treatments for highly prevalent conditions affecting millions of people. The company was founded in 2017 with technology licensed from three leading U.S. research institutions: Mayo Clinic, University of Florida, and NYU Langone Health. Headquartered in Palo Alto, California, Genascence's founders and leadership team have deep experience in the design, development, and manufacturing of successful gene therapies and biological medicines. For more information, please visit http://www.genascence.com.

SOURCE Genascence

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Genascence Announces Data From Phase 1 Clinical Trial on GNSC-001, Company's Lead Program in Osteoarthritis, Presented at American Society of Gene...

WASHINGTON, DC The covid virus killed some 460,000 Americanslast year, heart disease killednearly 700,000people in the U.S. in the same period.The fact is that heart attacks are the number one cause of death in America and throughout the world.So, the announcement that scientists are testing a way to prevent heart attacks with a single injection may sound like a life-saving game-changer, particularly for seniors over the age of 65 who, according to the National Institute on Aging, are much more likely than younger people to suffer aheart attack.

Verve Therapeutics describes itself as a biotechnology company created with a singular focus: to protect the world from heart disease.Over the next three years the company says it will be testing a radical gene therapy to permanently prevent the buildup of bad cholesterol with that single injection.Cardiologist, geneticist and CEO of Verve Therapeutics, Dr. Sekar Kathiresan, says The therapy will be relevant, we think, to any adult at risk of a heart attack.We want this not only for people who have heart attacks at a young age because of a genetic disorder, but for garden variety heart attacks as well.

Kathiresan resigned positions at Harvard Medical Schooland the Center for Genomic Medicine at Massachusetts general hospital to create Verve Technologies.We really think we can turn the tide against coronary disease by moving from a chronic care model to [eradication with] a one-time treatment, he toldThe Guardian.Currently, blood thinners, statins to lower cholesterol levels and high blood pressure medications are the standard treatments for individuals with a risk of heart disease.But seniors in particular can be overwhelmed by the treatments and may stop complying with their doctors orders.Or they may simply forget to take their meds.

Phase one of field tests of Verves procedure showed promise, according to aBloomberg report.Monkeys were treated and within six months their cholesterol levels were reduced by 59%.It will be months before human testing will begin and years before Verve might have sufficient proof that the process is safe and that it works in order to seek government approval of its use.

Ultimately, says Bloomberg, the company will face plenty of hurdles in its attempt to treat the masses.Its one of the firsttestsof using Crispr [a gene editing tool] to edit DNAinside the human body, and patients and doctors could be wary of making a permanent change without knowing much about long-term safety, saysElizabeth McNally, director of the Center for Genetic Medicine at the Northwestern University Feinberg School of Medicine.McNally also pointed out that the reluctance to take Covid-19 vaccines suggests some people may be loath to alter their DNA.

And then there is the matter of cost.Effective cholesterol medications are available for as little as nine dollars a month while Verves therapy will cost from $50,000 to $200,000 per patient, according to Bloomberg.

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Will we be able to check cholesterol using gene editing technology or will it be too dangerous and costly to even try? - L'Observateur - L'Observateur

DiNAQOR DiNAMIQS offers comprehensive range of biomanufacturing services,GMP-compatible process development, quality control and analytical development

ZURICH-SCHLIEREN, Switzerland, May 16, 2022 /PRNewswire/ --DiNAQOR announced today the launch of DiNAQOR DiNAMIQS, a biomanufacturing subsidiary, that will accelerate development timelines and reduce costs and risk for genetic medicine companies bringing new treatments to market.

DiNAQOR DiNAMIQS is based in the company's state-of-the-art, 1,200-square-meter (13,000 square feet) manufacturing facility in Bio-Technopark Schlieren-Zrich, the leading center for biotechnology companies in Central Europe. DiNAQOR's Chief Technology Officer, Eduard Ayuso, will serve as the CEO of DiNAQOR DiNAMIQS.

"We look forward to partnering with the world's leading gene therapy companies," said Johannes Holzmeister, M.D., Chairman and CEO of DiNAQOR."There are always challenges in the development process, and DiNAQOR DiNAMIQS is ideally suited to meet and overcome them. Manufacturing viral vectors at meaningful bioreactor scale and using GMP-compatible processes for preclinical studies will improve quality and safety while accelerating development timelines for genetic medicines."

DiNAQOR DiNAMIQS provides a comprehensive range of manufacturing services, process development, quality control and analytics solutions to support and accelerate gene therapy projects.

The DiNAMIQS platform employs innovative upstream and downstream processes and provides high-quality recombinant adeno-associated viral (AAV) vector manufacturing suitable for both in vitro and in vivo R&D applications up to 50L scale. Aligned with GMP regulations, the manufacturing protocol provides researchers with high quality vectors and minimal changes as projects progress toward clinical applications. DiNAMIQS is currently building a state-of-the-art GMP-compliant 2,400-square-meter (26,000 square feet) facility that can produce viral vectors at 500L scale.

DiNAQOR DiNAMIQS is also pioneering customizable, GMP-compatible process development that accelerates research and development efforts and is guided by a diagnostic procedure to determine relevant bioprocessing solutions. DiNAMIQS' process development expertise includes biomass expansion in bioreactor, large-scale transfection, harvest and clarification, ultrafiltration/diafiltration, affinity chromatography capture, ion exchange chromatography, preparative ultracentrifugation, desalting, dynamic dialysis, formulation, sterile filtration, automation assisted fill and finish.

Genetic medicinecompanies partnering with DiNAQOR DiNAMIQS will also use analytics that yield critical insights on viral vector potency, identity, and purity. DiNAMIQS in-house capabilities include digital PCR-based methods for titer quantification, ELISA, purity analyses, TCID50 infectivity assays and testing for bacterial endotoxins.

"Our state-of-the-art facility and stellar viral vector manufacturing team are prepared to help gene therapy developers bring their therapies efficiently to the clinic. I intend to bring my learnings from 20 years' experience in the field to our partners and provide them with high quality vectors. DiNAMIQS will shorten the time to market by closing the gaps between research grade vector supply, process development and GMP manufacturing," said Eduard Ayuso, CEO of DiNAQOR DiNAMIQS.

"Additionally, many promising gene therapy programs slow down when the costs associated with scaling up their manufacturing begin to mount. Our biomanufacturing expertise will enable these projects to move forward in a cost-effective way -- and do so quickly."

To learn more about DiNAQOR DiNAMIQS, visit http://www.dinamiqs.com.

About DiNAQORDiNAQOR is a life sciences platform company that is pioneering proprietary human-based tissue drug development and technology to enable organ-specific delivery of gene therapies and other therapeutics. The company is headquartered in Zurich-Schlieren, Switzerland, with additional presence in London, England; Hamburg, Germany; and Laguna Hills, California. For more information visit http://www.dinaqor.com.

Contact:KWM CommunicationsKellie Walsh914-315-6072[emailprotected]

SOURCE DiNAQOR

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DiNAQOR Opens DiNAMIQS Subsidiary to Partner with Gene Therapy Companies Bringing New Treatments to Patients - PR Newswire

ABO-102 / UX111 is being evaluated in ongoing pivotal Transpher A trial in patients with MPS IIIA

Interim data featured in encore oral presentation at American Society of Gene & Cell Therapy (ASGCT) today

NOVATO, Calif. and NEW YORK and CLEVELAND, May 17, 2022 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) and Abeona Therapeutics Inc. (Nasdaq: ABEO) today announced an exclusive license agreement for AAV gene therapy ABO-102 (now UX111) for the treatment of Sanfilippo syndrome type A (MPS IIIA). Under the terms of the agreement, Ultragenyx will assume responsibility for the ABO-102 program and in return Abeona is eligible to receive tiered royalties of up to 10% on net sales and commercial milestone payments following regulatory approval.

Based on promising data from Abeonas clinical program, regulatory feedback to date, and our experience developing treatments for other MPS diseases, we believe ABO-102 has the potential to be a transformative therapy for patients with MPS IIIA, said Emil D. Kakkis, M.D., Ph.D., Chief Executive Officer and President of Ultragenyx.Our teams expertise in MPS and gene therapy clinical development makes this program a seamless integration, and it has the potential to be our first gene therapy to market. The Sanfilippo community has been waiting too long for a first treatment and we believe we can help accelerate this program.

Data from the ongoing Transpher A trial demonstrate ABO-102 holds significant potential to improve outcomes for patients with MPS IIIA who experience relentlessly progressing neurodevelopmental and physical decline that is life-threatening at a very young age, said Vish Seshadri, Ph.D., Chief Executive Officer of Abeona. We believe that Ultragenyx, with deep expertise in rare, genetic, metabolic lysosomal storage disorders and a demonstrated commitment towards MPS diseases, is the ideal partner to eventually bring ABO-102 to patients.

Abeona has completed a successful Type B meeting with the U.S. Food and Drug Administration (FDA) regarding the pivotal Transpher A trial to support filing and approval for ABO-102 for the treatment of patients with MPS IIIA. Interim results from the Transpher A trial presented in an encore presentation at the American Society of Gene & Cell Therapy (ASGCT) today demonstrate that neurocognitive development was preserved in children treated before 2 years old or with a development quotient (DQ) > 60 (n=10) within normal range of a non-afflicted child after treatment with ABO-102 (3x1013 vg/kg). The interim results also showed continued or stabilized cognitive function and behavioral progress using standard developmental assessments. Some of these patients have reached 24-months post treatment and stabilization or increase in cortical gray matter, total cerebral, and amygdala volumes have been observed. Statistically significant reduction in liver volume was seen with ABO-102 treatment. Dose-dependent and statistically significant reductions in cerebrospinal fluid and plasma heparan sulfate, demonstrating replacement of enzyme activity consistent with levels required for disease correction in the central nervous system, have been sustained in treated patients for two years after treatment. ABO-102 has been well-tolerated with no treatment-related serious adverse events and no clinically meaningful adverse events reported.

MPS IIIA is characterized by severe neurodegeneration with debilitating symptoms for which there is currently no treatment, said Kevin Flanigan, M.D., director of the Center for Gene Therapy at Nationwide Childrens Hospital in Columbus, Ohio, and Transpher A study principal investigator. The promising results to date suggest a single intravenous dose of ABO-102 AAV-based gene therapy has the potential to help children with MPS IIIA sustain neurocognitive development when they are treated during early stages of their disease.

About ABO-102 / UX111ABO-102 (now UX111), is a novel gene therapy in Phase 1/2 development for Sanfilippo syndrome type A (MPS IIIA), a rare lysosomal storage disease with no approved treatment that primarily affects the central nervous system (CNS). ABO-102 is dosed in a one-time intravenous infusion using a self-complementary AAV9 vector to deliver a functional copy of the SGSH gene to cells of the CNS and peripheral organs. The therapy is designed to address the underlying SGSH enzyme deficiency responsible for abnormal accumulation of glycosaminoglycans in the brain and throughout the body that results in progressive cell damage and neurodevelopmental and physical decline. The ABO-102 program has received Regenerative Medicine Advanced Therapy, Fast Track, Rare Pediatric Disease, and Orphan Drug designations in the U.S., and PRIME and Orphan medicinal product designations in the EU.

About the Transpher A StudyThe Transpher A Study (ABT-001) is an ongoing, two-year, open-label, dose-escalation, Phase 1/2 global clinical trial assessing ABO-102 for the treatment of patients with Sanfilippo syndrome type A (MPS IIIA). The study is intended for patients from birth to 2 years of age, or patients older than 2 years with a cognitive developmental quotient of 60% or above. ABO-102 gene therapy is delivered using AAV9 technology via a single-dose intravenous infusion. The study primary endpoints are neurodevelopment and safety, with secondary endpoints including behavior evaluations, quality of life, enzyme activity in cerebrospinal fluid (CSF) and plasma, heparan sulfate levels in CSF, plasma and urine, and brain and liver volume.

Further details can be referenced here: https://clinicaltrials.gov/ct2/show/NCT02716246

About Sanfilippo syndrome type A (MPS IIIA)Sanfilippo syndrome type A (MPS IIIA) is a rare, fatal lysosomal storage disease with no approved treatment that primarily affects the CNS and is characterized by rapid neurodevelopmental and physical decline, often by age three. MPS IIIA has a global incidence of one in 100,000 with a median life expectancy of 15 years.

Children with MPS IIIA present with progressive language and cognitive decline and behavioral abnormalities. Other symptoms include sleep problems and frequent ear infections. Additionally, distinctive facial features with thick eyebrows or a unibrow, full lips and excessive body hair for ones age, and liver/spleen enlargement are also present in early childhood. MPS IIIA is caused by genetic mutations that lead to a deficiency in the SGSH enzyme responsible for breaking down glycosaminoglycans, which accumulate in cells throughout the body resulting in rapid health decline associated with the disorder.

About Ultragenyx Pharmaceutical Inc.Ultragenyx is a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved medicines and treatment candidates aimed at addressing diseases with high unmet medical need and clear biology, for which there are typically no approved therapies treating the underlying disease.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyxs strategy is predicated upon time- and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the company's website at: http://www.ultragenyx.com.

About Abeona TherapeuticsAbeona Therapeutics Inc. is a clinical-stage biopharmaceutical company developing cell and gene therapies for serious diseases. Abeonas lead clinical program is EB-101, its investigational autologous, gene-corrected cell therapy for recessive dystrophic epidermolysis bullosa in Phase 3 development. The Companys development portfolio also features AAV-based gene therapies for ophthalmic diseases with high unmet medical need. Abeonas novel, next-generation AAV capsids are being evaluated to improve tropism profiles for a variety of devastating diseases. Abeonas fully integrated gene and cell therapy cGMP manufacturing facility produces EB-101 for the pivotal Phase 3 VIITAL study and is capable of clinical and potential commercial production of AAV-based gene therapies. For more information, visit http://www.abeonatherapeutics.com.

Ultragenyx Forward-Looking Statements and Use of Digital MediaExcept for the historical information contained herein, the matters set forth in this press release, including statements related to Ultragenyx's expectations and projections regarding its business plans and objectives, the therapeutic potential and clinical benefits of its products and product candidates, expectations regarding the safety and tolerability of its products and product candidates, and future clinical developments or commercial success for its products or product candidates are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements involve substantial risks and uncertainties that could cause our clinical development programs, collaboration with third parties, future results, performance or achievements to differ significantly from those expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the ability of Ultragenyx and its third party partners to successfully develop product candidates, including ABO-102 / UX111, the effects from the COVID-19 pandemic on the companys clinical and commercial activities and business and operating results, risks related to reliance on third party partners to conduct certain activities on the companys behalf, the potential for any license or collaboration agreement, including the companys license agreement with Abeona as described in this press release, to be terminated, uncertainty and potential delays related to clinical drug development, the companys ability to achieve its projected development goals in its expected timeframes, risks and uncertainties related to the regulatory approval process, smaller than anticipated market opportunities for the companys products and product candidates, manufacturing risks, competition from other therapies or products, and other matters that could affect sufficiency of existing cash, cash equivalents and short-term investments to fund operations, the companys future operating results and financial performance, the timing of clinical trial activities and reporting results from same, and the availability or commercial potential of Ultragenyxs products and drug candidates. Ultragenyx undertakes no obligation to update or revise any forward-looking statements. For a further description of the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to the business of Ultragenyx in general, see Ultragenyx's Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) on May 5, 2022, and its subsequent periodic reports filed with the SEC.

In addition to its SEC filings, press releases and public conference calls, Ultragenyx uses its investor relations website and social media outlets to publish important information about the company, including information that may be deemed material to investors, and to comply with its disclosure obligations under Regulation FD. Financial and other information about Ultragenyx is routinely posted and is accessible on Ultragenyxs investor relations website (https://ir.ultragenyx.com/) and LinkedIn website (https://www.linkedin.com/company/ultragenyx-pharmaceutical-inc-/mycompany/).

Abeona Forward-Looking StatementsThis press release contains certain statements that are forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended, and that involve risks and uncertainties. We have attempted to identify forward-looking statements by such terminology as may, will, believe, estimate, expect, and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances), which constitute and are intended to identify forward-looking statements. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, numerous risks and uncertainties, including but not limited to the potential impacts of the COVID-19 pandemic on our business, operations, and financial condition; continued interest in our rare disease portfolio; our ability to commercialize our EB-101 product candidate; obtaining a strategic partnership to take over development activities for ABO-102; our ability to enroll patients in clinical trials; the outcome of any future meetings with the U.S. Food and Drug Administration or other regulatory agencies; the impact of competition; the ability to secure licenses for any technology that may be necessary to commercialize our product candidates; the ability to achieve or obtain necessary regulatory approvals; the impact of changes in the financial markets and global economic conditions; risks associated with data analysis and reporting; reducing our operating expenses and extending our cash runway; our ability to execute our operating plan and achieve important anticipated milestones; and other risks disclosed in the Companys most recent Annual Report on Form 10-K and other periodic reports filed with the Securities and Exchange Commission. The Company undertakes no obligation to revise the forward-looking statements or to update them to reflect events or circumstances occurring after the date of this press release, whether as a result of new information, future developments or otherwise, except as required by the federal securities laws.

ContactsUltragenyx Pharmaceutical Inc. Investors Joshua Higair@ultragenyx.com

Media Jeff BlakeMedia@ultragenyx.com

Abeona Therapeutics Investors and Media Greg Ginir@abeonatherapeutics.com

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Ultragenyx Acquires Global Rights to AAV Gene Therapy ABO-102 for Sanfilippo Syndrome Type A (MPS IIIA) from Abeona Therapeutics - GlobeNewswire

In Greenland in January 2021, a child just under two years old was sickvery sick. And his doctors couldnt figure out why. He was feverish, vomiting, having seizures. Meningitis was suspected to be the cause; a tuberculosis diagnosis was also being tossed around. The child was transferred to Copenhagento Rigshospitalet, the largest hospital in Denmarkfor further evaluation.

By March, the childs doctors were no closer to figuring out why he wasnt getting better. So they reached out to Trine Mogensen, a professor of immunology at Aarhus University in Denmark. It was really unclear what this infection was. And there was no evidence of bacterial infection or tuberculosis, Mogensen says. Stumped, she and her team sequenced the childs genome to see if this uncovered any clues. It came out, surprisingly, that there was a genetic mutation, she says.

What they had found was a mutation in the gene that codes for IFNAR2, a protein that binds to type I interferons. Interferons are a family of proteins that play an essential role in fighting off viral infections. Without type I interferons working well, the child would be unable to mount any kind of immune response to viruses such as Covid-19 and the flu.

Yet what virus the child was facing was still unclear. So Mogensen got in contact with Christopher Duncan, a clinician-scientist who studies viral immunity and interferons at Newcastle University in the United Kingdom. Duncan had been researching the very same genetic mutation for several years, first documenting it in a 2015 paper in the journal Science Translational Medicine. In that paper, he and his colleagues had found the genetic variant in a family from Ireland. A 13-month-old infant had suffered a severe case of encephalitisinflammation of the brainafter receiving the MMR vaccine, which contains live (but weakened) forms of the measles, mumps, and rubella viruses. The childs illness ultimately proved to be fatal.

Following the publication of that paper, Duncan and his colleagues had been contacted by researchers in Alaska, who had identified a couple of childrenunrelatedwho had run into major problems with multiple viruses and had the same genetic variant. He was also alerted to two children in northern Canada with a similar condition.

Knowing this, Mogensen and Duncan went back to the child from Greenlandand finally uncovered the root of his condition. They discovered that three weeks before falling ill, he had also been vaccinated with the live MMR vaccine. (The child survived and is now healthy.) Duncan and Mogensen published their findings in April in the Journal of Experimental Medicine.

But now the team wanted to know if there were more people carrying this uncatalogued genetic mutation. They had noted that the boy from Greenland and the children from Alaska were all of Inuit or Alaska Native heritage. They trawled through the genetic records of 5,000 Inuit and found the variant was surprisingly common: In fact, 1 in 1,500 people in the Inuit population were carrying it. That was hugely surprising, Duncan says.

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This Gene Mutation Breaks the Immune System. Why Has It Survived? - WIRED