Daily Archives: July 4, 2020

Hansa grants Sarepta exclusive license to develop and promote imlifidase as a potential pre-treatment prior to the administration of gene therapy in Duchenne muscular dystrophy and Limb-girdle muscular dystrophy, for patients with neutralizing antibodies (NAbs) to adeno-associated virus (AAV).

Under the terms of the license: Hansa will receive a USD 10 million upfront payment and is eligible for up to USD 397.5 million in development, regulatory and sales milestone payments. Hansa will book all sales of imlifidase and would be eligible for royalties in the high single-digits to mid-teens on any gene therapy sales enabled through pre-treatment with imlifidase in NAb-positive patients.

Lund, Sweden July 2, 2020. Hansa Biopharma (Hansa), the leader in immunomodulatory enzyme technology for rare IgG mediated diseases, announced today that it has entered into an agreement with Sarepta Therapeutics Inc. (Sarepta), the leader in precision genetic medicine for rare diseases, through which Sarepta is granted an exclusive, worldwide license to develop and promote imlifidase as a pre-treatment to enable Sarepta gene therapy treatment in Duchenne muscular dystrophy (DMD) and Limb-girdle muscular dystrophy (LGMD). The pre-treatment is intended for patients with pre-existing neutralizing antibodies (NAb-positive patients) to adeno-associated virus (AAV), the technology that is the basis for Sareptas gene therapy products.

Sarepta will be responsible for conducting pre-clinical and clinical studies with imlifidase and any subsequent regulatory approvals. Sarepta will also be responsible for the promotion of imlifidase as a pre-treatment to Sareptas gene therapies following potential approval.

Under the terms of the agreement, Hansa will receive a USD 10 million upfront payment, and is eligible for a total of up to USD 397.5 million in development, regulatory and sales milestone payments. Hansa will book all sales of imlifidase, and earn high single-digit to mid-teens royalties on Sareptas incremental gene therapy sales when treating NAb-positive patients enabled through pre-treatment with imlifidase.

Sren Tulstrup, President & CEO of Hansa Biopharma comments,We see significant potential for our enzyme technology in the gene therapy space overall, and we are excited to partner with Sarepta, a leading player in the field, to use the unique features of imlifidase to potentially enable gene therapy treatment in patients who today arent eligible for these breakthrough therapies due to pre-existing neutralizing antibodies in two conditionswith a very high unmet medical need.

Doug Ingram, President & CEO, Sarepta Therapeutics said,As we expand our leadership position in genetic medicine and build out our gene therapy engine, one of Sareptas central ambitions is to find scientific solutions that bring our potentially life-saving therapies to the greatest number of the rare disease patients we serve. One of the current limitations of gene therapy is the inability to treat patients who have pre-existing neutralizing antibodies to the AAV vector. While our AAVrh74 vector has been associated with a low screen out rate for neutralizing antibodies, even that low rate is inconsistent with our mission.

In pre-clinical and clinical models, Hansas technology has shown the ability to clear the IgG antibodies that prevent dosing AAV-based gene therapies. If successful, this could offer the potential of extending our gene therapy treatments to DMD and LGMD patients who would otherwise have been denied access due to pre-existing antibodies.

Hansa Biopharma will be hosting a conference call with President & CEO Sren Tulstrup, CSO & COO Christian Kjellman and CFO Donato Spota.

Conference Call Partnership agreement with Sarepta TherapeuticsA conference call will take place July 2nd, 2020 at 10:00am CET. The audio cast will be recorded and subsequently be available on the Hansa website https://hansa.eventcdn.net/202007

Participants dial-in numbersSE: + 46 81 241 09 52UK: + 44 203 769 6819US: + 1 646 787 0157

This is information that HansaBiopharma AB is obliged to makepublic pursuant to the EU MarketAbuse Regulation.

About imlifidaseImlifidase is a unique antibody-cleaving enzyme originating from Streptococcus pyogenes that specifically targets IgG and inhibits IgG-mediated immune response. It has a rapid onset of action, cleaving IgG-antibodies and inhibiting their activity within hours after administration. CHMP/EMA has adopted a positive opinion, recommending conditional approval of imlifidase for the desensitization treatment of highly sensitized adult kidney transplant patients with a positive crossmatch against an available deceased donor. Endorsement of the positive opinion by the European Commission is expected in the third quarter of 2020.Hansa has also reached an agreement with the FDA on a regulatory path forward for imlifidase in kidney transplantation of highly sensitized patients in the U.S. and has three ongoing phase 2 trials in autoimmune diseases and post-transplant indications.

About gene therapy and neutralizing antibodiesGene therapy is a growing and revolutionizing treatment technology in which healthy gene sequences are inserted into cells of a patient. The treatments are potentially curative in monogenic diseases like hemophilia and muscular dystrophy through a single dose. Harmless recombinant viruses are used to carry the healthy genes into the cell. Due to the partial viral origin of the gene therapy constructs, a certain subset of patients carry neutralizing anti-AAV antibodies towards gene therapy products, depending on what AAV serotype being used, forming a barrier for treatment eligibility.Antibodies prevent effective transfer of healthy gene sequence and can be a safety concern. Imlifidase as a pre-treatment may have the potential to eliminate neutralizing antibodies prior to gene therapy. Similarly, imlifidase may have the potential to enable any potentially necessary re-dosing of gene therapy for all patients.

About Duchenne Muscular Dystrophy (DMD)Duchenne muscular dystrophy is a rare genetic disease caused by mutation in the DMD gene, encoding for the protein dystrophin. Duchenne is an irreversible, progressive disease that causes the muscles in the body to become weak and damaged over time. It is eventually fatal and there is no cure. DMD affects one in 3,500 to 5,000 males born worldwide (approximately 400-500 annual cases in the US) and causes muscles in the body to become weak and most patients use wheelchair by the age of 12.

About Limb-Girdle Muscular Dystrophy (LGMD)Limb-girdle muscular dystrophy or (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD has an autosomal pattern of inheritance and currently has no known cure or treatment. It can be caused by a single gene defect that affects specific proteins within the muscle cell, including those responsible for keeping the muscle membrane intact. LGMD has a global prevalence of approximately 1.63 per 100,000 individuals worldwide.

For further information, please contact:Klaus Sindahl, Head of Investor RelationsHansa Biopharma Mobile: +46 (0) 709-298 269E-mail: klaus.sindahl@hansabiopharma.com

About Hansa BiopharmaHansa Biopharma is leveraging its proprietary immunomodulatory enzyme technology platform to develop treatments for rare immunoglobulin G (IgG)-mediated autoimmune conditions, transplant rejection and cancer.The Companys lead product candidate, imlifidase, is a unique antibody-cleaving enzyme that potentially may enable kidney transplantation in highly sensitized patients with potential for further development in other solid organ transplantation and acute autoimmune indications. CHMP/EMA has adopted a positive opinion, recommending conditional approval of imlifidase for the desensitization treatment of highly sensitized adult kidney transplant patients with a positive crossmatch against an available deceased donor. Endorsement of the positive opinion by the European Commission is expected in the third quarter of 2020. Hansas research and development program is advancing the next generation of the Companys technology to develop novel IgG-cleaving enzymes with lower immunogenicity, suitable for repeat dosing in relapsing autoimmune diseases and oncology.Hansa Biopharma is based in Lund, Sweden and also has operations in Europe and US.

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Hansa Biopharma announces exclusive agreement with Sarepta Therapeutics to develop and promote imlifidase as pre-treatment ahead of gene therapy in se...

AVROBIO: On Monday, clinical-stage gene therapy company AVROBIO, headquartered in Massachusetts, announced the appointment of Kim Raineri as chief manufacturing and technology officer.

I am thrilled to join AVROBIO, a leader in lentiviral gene therapy and a true pioneer in driving manufacturing advances that address the gene therapy fields need for faster, more scalable and more automated production, Raineri said. The AVROBIO team has created a state-of-the-art gene therapy platform and is clearly committed to continuous innovation on behalf of the patient communities they strive to serve. I am excited to contribute to that work.

Raineri will be replacing AVROBIO co-founder Kim Warren in the position, who will be retiring at the end of July. Before joining AVROBIO, Raineri served as the vice president of operations for Nikon CeLL Innovation Co.

Scenic Biotech: On Wednesday, Netherlands-based Scenic Biotech announced the appointment of their new chief executive officer. Newly appointed CEO Oscar Izeboud brings more than 20 years of life sciences and finance industry experience.

Prior to joining Scenic, Izeboud served as managing director at NIBC Bank in Amsterdam, where he led its corporate finance and capital markets team with a focus on innovation and growth companies.

Former acting CEO and scientific co-founder Sebastian Nijman takes on the role of chief scientific officer.

Akari Therapeutics: Biopharmaceutical company Akari Therapeutics on Wednesday announced the appointment of Torsten Hombeck as chief financial officer and a member of the company's executive team.

Torsten brings a deep understanding of financial strategy, the capital markets and business development to Akari. We are delighted to have him as a permanent member of Akaris executive leadership team," said Clive Richardson, Chief Executive Officer of Akari Therapeutics. "His appointment comes at a time of significant company opportunity and growth. His business and financial expertise will be instrumental in helping us to further develop the Company."

Hormbeck joins Akari with over 20 years of biopharmaceutical industry experience in financial and strategic planning.

Sarepta Therapeutics: Earlier this week, Cambridge-based Sarepta Therapeutics announced the retirement of Sandy Mahatme, the company's executive vice president, chief financial officer and chief business officer. Mahatme will be leaving the company effective July 10.

The Sarepta from which Sandy retires is a very different one from the organization he joined as our chief financial officer some eight years ago. And the Sarepta of today a financially solid biotechnology organization with perhaps the industrys deepest and most valuable pipeline of genetic medicine candidates with the potential to extend and improve lives would not have been possible without Sandys business acumen and dedication, said Doug Ingram, president and chief executive officer of Sarepta Therapeutics.

Sarepta has launched a search to identify the future chief financial officer.

BioMarin: On June 29, BioMarin, a global biotechnology company, announced a pair of promotions. Brian Mueller was promoted to executive vice president, chief financial officer and Andrea Acosta was promoted to group vice president, chief accounting officer.

Mueller has been with BioMarin since 2002, during which he has taken on roles of increasing responsibility. Acosta has been with BioMarin since 2017 as vice president, corporate controller.

Theravance Biopharma: Dublin-based Theravance Biopharma on Thursday announced the appointment of Deepika Pakianathan to its Board of Directors. Pakianathan serves as a managing member at Delphi Ventures, a venture capital firm focused on biotechnology and medical device investments.

"We are honored to welcome Dr. Pakianathan to our board of directors," said Rick Winningham, chief executive officer of Theravance. "We believe her vast experience in the biotechnology sector, translating breakthrough science and taking important therapies from pipeline to patients, will further enhance our already talented Board of Directors."

Novavax: On Thursday, Maryland-based Novavax announced the appointment of Frank Czworka as senior vice president, global sales. Czworka will be responsible for leading sales planning and distribution for the company. He brings more than 20 years of biopharmaceutical experience to the company, with his most recent experience being as vice president, global customer enngagement at U.S. Pharmacopeia.

Novavax also announced the promotion of Brian Webb to senior vice president, manufacturing. Webb will be responsible for overseeing antigen manufacturing and supply activities in support of the company's vaccine candidates. Webb has been with Novavax since May 2014.

eGenesis: On Wednesday, Massachusetts-based eGenesis announced that it appointed Peter Hanson as chief operating officer. Hanson will be in charge directing eGenesis' day-to-day organizational and operational activities including production and manufacturing.

Peter is a highly experienced biopharmaceutical executive across multiple disciplines, which will be critical to support our next phase of growth as we integrate production and R&D, said Paul Sekhri, President and Chief Executive Officer of eGenesis. Peters operational leadership and veterinary knowledge will help us accelerate our product development as we move closer to IND filing for human clinical studies. We are very grateful for Kenneth Fans many contributions as our founding COO. I am delighted that he will continue to serve as an advisor to the company.

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Movers & Shakers, July 3 | BioSpace - BioSpace

Integrated Health System is bringing cell and gene therapy to cats, dogs, and horses. Recently IHS Pets has helped a paralyzed dog with a spinal cord injury to walk again after it was treated with experimental PRP and prolotherapy. Click here to see the video.

Telomeres

Aging is the root of virtually every complex noncommunicable disease in humans and animals. Telomeres are the protective end caps on the ends of our chromosomes, they are as important for the health of both humans and our pets, and they play roles in longevity.

One of the contributing factors in the lifespan in dog breeds is telomere length. As in humans researchers have found that telomere length is a strong predictor of average life span among 15 different breeds consistent with telomeres playing a role in life span determination. Dogs lose telomeric DNA ~10-fold faster than humans, which is similar to the ratio of average life spans between these species. As such telomerase therapy may be beneficial to pets as well as their human caretakers.

Telomerase gene therapy has been shown to extend lifespan in animals, this therapy may help to increase bone mineral density, improve motor performance, improve metabolism, and improve brain function.

Follistatin

The loss of muscle mass with age is just as problematic for animals as it is to humans; in cats for instance a study showed that for each 100g loss of lean body mass increased the risk of death by 20%. This is typically accompanied by frailty, and it is a contributing factor to metabolic syndrome, diabetes, heart disease, and overall mortality.

Diet and exercise have been shown to pay key roles in keeping pets healthy, but the loss of muscle mass is unavoidable without an effective intervention. Enter follistatin: myostatin blocks muscle growth, when it is inhibited then follistatin is able to let muscles grow freely to stop them from wasting away.

Follistatin gene therapy has been shown to be safe and effective in animals, this therapy may help to protect against frailty, increase muscle density, increase strength, and increase endurance.

Klotho: The Queen of Anti-Aging Proteins

1 in 3 cats will suffer from renal disease, but these numbers are under scrutiny with some suggesting that estimate may be too conservative. Chronic kidney failure can occur gradually over months or years, and it is one of the most common conditions affecting older cats with most cases progressing over time worsening the disease.

Klotho is known to play a significant role in the development of chronic kidney disease, and researchers are now turning to its broader role in the anging process as a whole; such as induces expression with gene therapy in mice has been shown to extend lifespan by targeting many of the same pathways as caloric restriction. Blocking Klotho has been shown to cause premature aging.

Klotho also helps to protect the brain, and contributes to more differences in intelligence than any one single gene. Research from the University of California has shown it to protect the brains of mice and improve brain function within 4 hours; and this result included young mice, old mice, and those that were models of Alzheimers disease.

In addition Klotho also plays a critical role in the inflammaging process. Inflammaging is the long term result of the chronic physiological stimulation of the innate immune system which can become damaging during the aging process.

Circulating levels of Kloto decreases with age, this decrease is associated with an increased risk of age related disease. Gene therapy with Klotho has been shown to increase lifespan in animal models, and it may improve kidney function, brain function, clear damage caused by oxidative stress, and protect against cardiovascular disease.

With the remarkable progress being made in genetics, gene therapy may play increasingly prominent and transformative roles in medicine for both humans and animals due to the potential to treat diseases and congenital disorders.

Pets can be an important part of life, they calm us, make us laugh, and create a bond of unconditional love. The company does note that all therapies are experimental, they are not approved by any regulatory body, and they make no claims that outcomes will be positive or beneficial.

IHS Pets is the veterinary wing of Integrated Health Systems, BioViva Sciences exclusive partner. IHS connects with doctors and patients who are interested in the power of gene therapy to pave the way to healthy aging and longevity.

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IHS Pets: Bringing Cell And Gene Therapy To Cats, Dogs & Horses - Anti Aging News

There was a time when modern medicine was primitive. There were no antibiotics, so every infection took its own course, leading to decline in health. Hypertension and diabetes were largely untreatable. X-ray was new, and remedies had changed but little from medieval times. No one ever embarked on the goodness of preventative treatment, not to speak of predictive medicine, beyond taking a distasteful cod liver oil capsule.

During the last hundred years, modern medicine has undergone a sea change. Just think of it an ever-expanding repertoire of medicines, high-tech procedures, therapies and reams of clinical data to employ when one gets sick. Yet modern medicine remained (in)complete, notwithstanding the therapeutic advances.

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Things are now changing thanks to the integration of all such advances, from how a persons diet interacts with ones unique genetic profile to how environmental pollutants affect our thinking, not to speak of preventative medical approaches in health and wellness. The bigperestroikahas begun, and it is poised to transform health care for a growing number of people in the near future. Welcome to a whole new world of personalized, bespoke medicine.

Personalized medicine is, in essence, tailored or customized medical treatment. It treats while keeping in mind the unique, individual characteristics of each patient, which are as distinct as ones fingerprint or signature. It also includes scientific breakthroughs in our understanding of how a persons unique molecular and genetic profile makes them susceptible to certain illnesses. Personalized medicine expands our ability to envisage medical treatments that would not only be effective but also safe for each patient while excluding treatments that may not provide useful objectives.

Personalized medicine is, in simple terms, the use of new methods of molecular scrutiny. It is keyed to help better manage a patients illness or their genetic tendency toward a particular illness or a group of diseases. In so doing, it aims to achieve optimal therapeutic outcomes by helping both clinicians and patients choose a disease management approach that is likely to work best in the context of the patients unique genetic and environmental summary. In other words, it allows to accurately diagnose diseases and their sub-types while prescribing the best form and dose of medication most suited to the given patient.

Personalized, or precision, medicine is not rocket science it is, in essence, an extension of certain traditional approaches to understanding and treating disease. What jazzed up the therapeutic fulcrum of personalized medicine are tools that are more precise. This is what also offers clinicians better insights for selecting a treatment protocol based on a patients molecular profile. Such a patient-specific methodology, as has been practiced for long in certain complementary and alternative medical (CAM) or integrative approaches, not only curtails harmful side effects but also leads to more successful outcomes, including reduced costs in comparison to the current trial-and-error approach to treatment, which has distressingly come to the fore during these extraordinary and unprecedented times of COVID-19.

It is still early days, but the fact remains that personalized medicine has changed the old ways of how we all thought about, identified and managed health issues. As personalized medicine increasingly bids fair to an exciting journey in terms of clinical research and patient care, its impact will only further expand our understanding of medical technology.

What personalized medicine has done is bring about a paradigm shift in our thinking about people in general and also specifically. We all vary from one another what we eat, what others eat, how we react to stress or experience health issues when exposed to environmental factors. It is agreed that such variations play a role in health and disease. It is also being incrementally accepted that certain natural variations found in our DNA can influence our risk of developing a certain disease and how well we could respond to a particular medicine.

All of us are unique individuals, perhaps with the exemption of identical twins, albeit the genomes are unique in them, too. While we are genetically similar, there are small differences in our DNA that are unique, which also makes us distinctive in terms of health, disease and our response to certain medicinal treatments.

Personalized medicine is poised to tap natural variations found in our genes that may play a role in our risk of getting or not getting certain illnesses, along with numerous external factors, such as our environment, nutrition and exercise. Variations in DNA can, likewise, lead to differences in how medications are absorbed, metabolized and used by the body. The understanding of such genetic variations and their interactions with environmental factors are elements that will help personalized medicine clinicians to produce better diagnostics and drugs, and select much better treatments and dosages based on individual needs not as just fixing a pill or two, as is the present-day conventional medical practice.

It is established that a majority of genes function precisely as intended. This gives rise to proteins that play a significant role in biological processes while allowing or helping an individual to grow, adapt and live in their environment. It is only in certain unusual situations, such as a single mutated or malfunctioning gene, that our apple cart is disturbed. This leads to distinct genetic diseases or syndromes such as sickle cell anemia and cystic fibrosis. In like manner, multiple genes acting together can impact the development of a host of common and complex diseases, including our response to medications used to treat them.

New advances will revolutionize bespoke medical treatment with the inclusion of drug therapy as well as recommendations for lifestyle changes to manage, delay the onset of disease or reduce its impact. Not surprisingly, the emergence of new diagnostic and prognostic tools has already raised our ability to predict likely outcomes of drug therapy. In like manner, the expanded use of biomarkers biological molecules that are associated with a particular disease state has resulted in more focused and targeted drug development.

Molecular testing is being expansively used today to identify breast cancer and colon cancer patients who are likely to benefit from new treatments and to preempt recurrences. A genetic test for an inherited heart condition is helping clinicians to determine which course of treatment would maximize benefit and minimize serious side effects while bringing about curative outcomes.

Such complexities exist for asthma and other disorders too. This is precisely where molecular analysis of biomarkers can help us to identify sub-types within a disease while enabling the clinician to monitor their progression, select appropriate medication, measure treatment outcomes and patients response. Future advances may make biomarkers and other tools affordable and allow clinicians to screen patients for relevant molecular variations prior to prescribing a particular medication.

It is already clear that personalized medicine promises three strategic benefits. In terms of preventative medicine, personalized medicine will improve the ability to identify which individuals are predisposed to develop a particular condition. A better understanding of genetic variations could also help scientists identify new disease subgroups or their associated molecular pathways and design drugs to target them. This could also help select patients for inclusion, or exclusion, in late-stage clinical trials. Finally, it will allow to work out the best dosage schedule or combination of drugs for each individual patient.

Yet not everything is hunky-dory for personalized medicine. Critics of precision medicine believe that the whole idea is too much of overhyped razzmatazz, among other things. Proponents, however, argue that when it comes to managing our own health, most of us are used to the idea of taking a one-size-fits-all approach be it medicines, supplements, diets and diagnoses. This may be wrong.

What works, as they put it, for one may be a gaffe for another. As the award-winning oncologist and medical technology innovator, Dr. David B. Agus, author of the groundbreaking bookThe End of Illness, puts it, each patients individual risk factors are based on ones DNA, the environment and a preventative lifestyle plan in response. He begins with simple, profound pointers: How is your sense of smell? and Is your ring finger longer than your middle finger? He explains with statistics-backed guidelines that moving and walking regularly is mandatory because exercising and then sitting is equivalent to smoking cigarettes, while eating and sleeping at consistent hours is imperative because irregularity causes inflammation.

The inference is obvious: We should all understand our physiology and quiz doctors with the thorough, exploratory frame of mind of a gadget buyer. This holds the key to making medicine truly personal, more humane, effective and safe while keeping in mind the individual in us all as unique and distinctive, the sum of the whole not just the parts.

The views expressed in this article are the authors own and do not necessarily reflect Fair Observers editorial policy.

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The Future of Medicine Is Bespoke - Fair Observer

CAMBRIDGE, Mass., June 30, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the retirement of Sandy Mahatme, Sareptas executive vice president, chief financial officer and chief business officer, from the company effective July 10, 2020. The company has commenced a search process to identify the future chief financial officer. During the interim period, the finance and accounting functions will report directly to Sareptas Chief Executive Officer, Doug Ingram, and other departments reporting to Mr. Mahatme will be overseen by members of Sareptas executive committee.

The Sarepta from which Sandy retires is a very different one from the organization he joined as our chief financial officer some eight years ago. And the Sarepta of today a financially solid biotechnology organization with perhaps the industrys deepest and most valuable pipeline of genetic medicine candidates with the potential to extend and improve lives would not have been possible without Sandys business acumen and dedication, said Doug Ingram, president and chief executive officer, Sarepta Therapeutics. On behalf of our board of directors and the entire organization, I want to wish Sandy all the best in his next journey and thank him for his invaluable and numerous contributions to our success and for having built a strong team of finance leaders who will continue to perform as he departs.

Said Mr. Mahatme, It has been a privilege to serve as Sareptas CFO and CBO for almost eight years and to have participated in its remarkable transformation and extraordinary growth. Working with this leadership team and our talented colleagues, we have built a strong foundation for Sareptas ongoing success in achieving its goal of changing the lives of patients with rare diseases around the world. Having built a strong team of finance, IT, facilities, manufacturing and business development professionals, I feel confident that this is a good time to transition to other opportunities, knowing that Sarepta is well-positioned to continue to lead the industry.

Sandy will continue to serve on the Board of Directors for Flexion Therapeutics, Inc., Aeglea BioTherapeutics, Inc., and Idorsia Pharmaceuticals Ltd.

AboutSarepta TherapeuticsAt 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.

Forward-Looking StatementThis 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 the search process to identify the future chief financial officer, the reporting structure during the interim period and the performance of the finance team; Sareptas potential to extend and improve lives; Sareptas goal of changing the lives of patients with rare diseases around the world; and Sarepta being well-positioned to continue to lead the industry.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: Sarepta may not be able to execute on its business plans and goals, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its product candidates to market, due to a variety of reasons, many of which may be outside of Sareptas control, including possible limitations of 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 Sareptas product candidates and the COVID-19 pandemic; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect Sareptas business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Internet Posting of Information

We routinely post information that may be important to investors in the 'For 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, 617-274-4052iestepan@sarepta.com

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

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Sarepta Therapeutics Announces Retirement of Sandy Mahatme, Chief Financial Officer and Chief Business Officer - GlobeNewswire

Newswise Massachusetts Eye and Ear, a member hospital of Mass General Brigham, is entering into an exclusive licensing agreement with Biogen to develop a potential treatment for inherited retinal degeneration due to mutations in the PRPF31 gene, which are among the most common causes for autosomal dominant retinitis pigmentosa.

Inherited retinal degenerations (IRDs), such as retinitis pigmentosa, are a group of blinding eye diseases caused by mutations in over 270 different genes. Mutations in the PRPF31 gene are the second most common cause of dominant IRD and lead to defects in the function of the retinal pigment epithelial (RPE) cells and photoreceptors of the retina. Previous lab-based research performed by members of the Ocular Genomics Institute at Harvard Ophthalmology, led by Eric A. Pierce, MD, PhD, demonstrated that adeno-associated virus (AAV)-mediated gene augmentation therapy for PRPF31 can restore normal function to PRPF31 mutant RPE cells.

Biogen (Nasdaq: BIIB), a biopharmaceutical company that discovers, develops, and delivers worldwide innovative therapies for people living with serious neurological and neurodegenerative diseases as well as related therapeutic adjacencies, will build upon this prior work, and conduct the studies needed for clinical development of PRPF31 gene therapy. This includes the pre-clinical studies needed to support progression to clinical trials of PRPF31 gene therapy. As part of the agreement, Biogen will receive an exclusive license to develop the product worldwide and will be responsible for all U.S. Food and Drug-Administration (FDA) required investigational new drug (IND) enabling studies, clinical development and commercialization.

The treatment of IRDs with highly effective AAV-based gene therapies is core to Biogens ophthalmology strategy, said Chris Henderson, Head of Research, Biogen. This agreement underscores our commitment to that strategy and builds off of our acquisition of Nightstar Therapeutics in 2019 and our active clinical trials of gene therapies for different genetic forms of IRD. We are excited to work with Massachusetts Eye and Ear and look forward to applying our preclinical and clinical experience to their leading PRPF31 program.

We are thrilled to work with Biogen, who will bring to this effort its deep experience with the clinical development process, as we work toward our goal of developing a gene therapy for people with PRPF31-related eye disease, added Dr. Pierce, who is the William F. Chatlos Professor of Ophthalmology at Harvard Medical School. My ultimate hope for patients with inherited retinal disorders due to mutations in PRPF31 is that a gene therapy will preserve and potentially restore some of their vision.

About the Ocular Genomics Institute

The Ocular Genomics Institute at Harvard Ophthalmology aims to translate genomic medicine into precision ophthalmic care for patients with inherited eye disorders. It is home to one of the leading centers for early-phase clinical trials of therapies for inherited retinal degenerations, with seven gene-based and one stem cell trial currently in progress. The group works in conjunction with other departments throughout Harvard Medical School and Mass. Eye and Ear, including the Bioinformatics Center and Grousbeck Gene Therapy Center.

Dr. Pierces lab, established in 2011, is dedicated to research in an effort to improve the understanding of the molecular bases of IRDs so that rational therapies can be developed for these diseases.

In 2018, Mass. Eye and Ear surgeons performed the first post-FDA approval gene therapy for patients with a form of inherited retinal blindness caused by mutations in the gene RPE65 by injecting an AAV-based drug treatment into a patients eye, which restored vision in a 13-year-old boy. This therapy, called Luxturna, is now being used to treat patients with RPE65-associated retinal degeneration around the world.

One of the exciting aspects of our collaboration with Biogen is that mutations in the PRPF31 gene affect approximately 10 to 20 times more people than mutations in the RPE65 gene, said Dr. Pierce. Success with PRPF31 gene therapy could provide visual benefit to more patients, which is our ultimate goal.

Mass. Eye and Ear was one of the first centers to offer life-changing gene therapies to patients with inherited retinal disease, and we are thrilled with this new opportunity to develop a translational retinal therapy that could help even more patients, said Joan W. Miller, MD, Chief of Ophthalmology at Mass. Eye and Ear, Massachusetts General Hospital, and Brigham and Womens Hospital, and Chair of Ophthalmology and the David Glendenning Cogan Professor of Ophthalmology at Harvard Medical School.

According to Chris Coburn, Chief Innovation Officer, Mass General Brigham, the collaboration with Biogen illustrates the importance of academia and industry teaming to solve problems for patients worldwide. We are eager to see this progress reach patients who are challenged by blinding, degenerative eye disease, said Coburn. We look forward to working with Biogen to advance this break-through innovation.

Patients with an inherited retinal disease require genetic testing prior to being considered for any gene therapy treatment.

About Massachusetts Eye and Ear

Massachusetts Eye and Ear, founded in 1824, is an international center for treatment and research and a teaching hospital of Harvard Medical School. A member of Mass General Brigham, Mass. Eye and Ear specializes in ophthalmology (eye care) and otolaryngologyhead and neck surgery (ear, nose and throat care). Mass. Eye and Ear clinicians provide care ranging from the routine to the very complex. Also home to the world's largest community of hearing and vision researchers, Mass. Eye and Ear scientists are driven by a mission to discover the basic biology underlying conditions affecting the eyes, ears, nose, throat, head and neck and to develop new treatments and cures. In the 20192020 Best Hospitals Survey,U.S. News & World Reportranked Mass. Eye and Ear #4 in the nation for eye care and #2 for ear, nose and throat care.For more information about life-changing care and research at Mass. Eye and Ear, visit our blog,Focus, and follow us onInstagram,TwitterandFacebook.

About Harvard Medical School Department of Ophthalmology

The Harvard Medical SchoolDepartment of Ophthalmologyis one of the leading and largest academic departments of ophthalmology in the nation. Composed of nine affiliates (Massachusetts Eye and Ear, which is home to Schepens Eye Research Institute; Massachusetts General Hospital; Brigham and Womens Hospital; Boston Childrens Hospital; Beth Israel Deaconess Medical Center; Joslin Diabetes Center/Beetham Eye Institute; Veterans Affairs Boston Healthcare System; Veterans Affairs Maine Healthcare System; and Cambridge Health Alliance) and several international partners, the department draws upon the resources of a global team to pursue a singular goaleradicate blinding diseases so that all children born today will see throughout their lifetimes. Formally established in 1871, the department is committed to its three-fold mission of providing premier clinical care, conducting transformational research, and providing world-class training for tomorrows leaders in ophthalmology.

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Massachusetts Eye and Ear Enters Licensing Agreement with Biogen to Develop Treatment for Inherited Retinal Disorder - Newswise

Christine Stanley, Ph.D., Chief Director of Clinical Genomics at Variantyx

The answer to questions about human disease can be found in our genes. The difficulty in the past has been the testing process, a sort of trial and error approach of drilling down into the multitude of variants that can be found within the genes, variants that when analyzed in tandem with detailed clinical histories can actually tell the story and lead to a faster diagnosis.

Human beings carry around 20,000 genes and, of those, approximately 5,000 are somewhat understood, and those genes can be associated with several diseases and each disease can be associated with dozens of clinical symptoms or more. It was believed that five percent or less of the human population carry variants involved in genetic diseases. But a recent study in the Annals of Internal Medicine, now suggests the number of people with variants linked to genetic diseases is closer to 20 percent. Many other factors may determine whether an individual actually develops a disorder, but these numbers suggest the acceptance of a new approach that provides the most useful diagnostic data from a single test thats easier on the patients and families and provides the shortest time to a diagnosis and the best chance at implementing treatments.

Here is an important reason. Parents with children suspected of having a genetic disease routinely face a diagnostic odyssey that typically lasts five to seven years and entails seeing an average of seven different physicians. Its an odyssey that comes with an average cost of diagnosis reaching $21,099, more than seven times the cost of a single whole-genome sequencing test.

Historically, genetic testing has been really disjointed. Tests that were developed 10 to 15 years ago are still being run today by laboratories. These tests target extremely specific areas for an exceedingly small number of changes that cause a certain disease. It is like looking under a lamp post. And an individual, who is suspected of having the disease, will be tested for one particular variant or a small number of variants. It is an approach that is lacking in quick, definitive, and accurate results. Unless the tested area accounted for the majority of the disease-causing variants, it then forces the ordering of more tests to try to find other causes of the disease, either within that same gene or within other genes. This is happening sequentially, so the patient keeps receiving negative results, and then additional tests are ordered and the merry-go-round can continue for years. It cost families financially and emotionally. Delaying the time to diagnosis can also close the effective treatment window in cases where early treatment is important for a good prognosis.

Ordering a single whole-genome sequencing (WGS) test right off the bat replaces almost all of those long, cumbersome, and costly processes. It all but eliminates having to endure multiple genetic tests because a patient needs only one sample and one turnaround time for the greatest chance to arrive at the correct diagnosis. More importantly, if the test results were negative and then a new gene associated with the patients disease is reported the next day, and that patient has a variant in that gene, a clinician can make that connection by reanalyzing the data rather than by bringing the patient back in for a new sample. In that way, genomic testing has really revolutionized the entire genetic testing industry by providing a comprehensive analysis with the shortest time to diagnosis.

Whole-genome sequencing does not require the mechanical step of isolating genes first. It enables the identification of different types of variants that labs do not typically see when one isolates genes. It also enables the use of sophisticated algorithms applied via software to allow for the ranking of variants in a way that pulls variants that are known to cause the disease to the top of the list for examination. Variants can also be ranked by looking at the severity of the effect of the variant on genes that most closely match the patients clinical symptoms. Those results are parsed based on the known inheritance patterns of these genes. Patients can be looked at through both of those lenses at the same timethe severity of the changes that are identified, and the changes that match with the clinical symptoms of the patient.

Whole-genome testing will soon become the first line of defense, rather than a last resort for families or individuals seeking clarity on genetic diseases because of its ability to incorporate sophisticated bioinformatics and data interpretation. It is a faster route for the proper diagnosis and treatment for both early-onset diseases like epilepsy and intellectual disabilities, as well as late-onset disorders like ataxia and ALS. It can be used to diagnose almost any genetic disorder spanning such areas as neurology, endocrinology, nephrology, hearing and vision loss, blood disorders like thalassemia, muscular dystrophy, etc. While insurance reimbursement can be challenging today, the insurance payers will come around, as they have always done in the past, because this test saves time, money, and supports better outcomes for patients.

About Christine Stanley, Ph.D.

Christine Stanley, Ph.D., is the Chief Director of Clinical Genomics for Variantyx, a provider of highly specialized genetic testing to clinicians and their patients. Christine is responsible for overseeing clinical genomic interpretations and regulatory compliance for the clinical laboratory.

See more here:
Eliminating the Long, Cumbersome and Costly Diagnosis of Genetic Diseases - HIT Consultant

DUBLIN, July 1, 2020 /PRNewswire/ -- The "Rare Disease Diagnostics: Technologies and Global Markets" report has been added to ResearchAndMarkets.com's offering.

The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019, rising at a CAGR of 9.5% over the forecast period.

The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.

This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.

The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.

More than 95 companies in the rare disease diagnostic industry are profiled in this report.

The research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.

The report includes:

Market Insights

Rare diseases comprise a growing public health priority, as they affect upward of 300 million people globally and they are difficult to diagnose and treat.

There is a pressing need for better ways to detect and diagnose rare diseases, as well as to provide companion diagnostics for therapy guidance, clinical trials enrollment and therapy monitoring applications.

Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions. Many rare diseases go undiagnosed for long periods of time because patients, families and physicians may have limited awareness of certain diseases, and the symptoms may not be informative to healthcare workers who may not have encountered such diseases before.

Extended time to diagnosis of a rare disease, along with so-called diagnostic odysseys, can lead to negative outcomes, including misdiagnosis or disease progression. Rapid, accurate diagnostics can significantly shorten these diagnostic odysseys.

In addition to early detection and diagnostic potential, rare disease therapeutics will be important in orphan drug development and use. Orphan drugs address rare disease patient populations, and they are expected to have a high growth rate through 2024. By 2024, orphan drugs may make up as much as one-fifth of global prescription sales. Rare disease diagnostics can be used to help physicians make proper decisions regarding which therapies to use and ways to monitor the efficacy of those therapies during treatment courses. Rare disease diagnostics can also be used to help select patients for orphan drug clinical trials.

More than 70% of rare diseases are inherited conditions, and they thus have genetic components, so this industry relies heavily on genetic analysis methods, including polymerase chain reaction (PCR), next-generation sequencing (NGS) and Sanger sequencing.

Key Topics Covered

Chapter 1 Introduction

Chapter 2 Summary and Highlights

Chapter 3 Overview

Chapter 4 Technology Background

Chapter 5 Rare Disease Diagnostics Initiatives

Chapter 6 Rare Disease Diagnostic Industries

Chapter 7 Rare Disease Diagnostics Strategic Alliances and Acquisitions

Chapter 8 Rare Disease Diagnostics Markets

Chapter 9 Rare Disease Diagnostics Patents and Intellectual Property

Chapter 10 Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/rp6ok6

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Research and Markets Laura Wood, Senior Manager [emailprotected]

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Rare Disease Diagnostics Industry Anticipated to Reach $26.7 Billion by 2024 - Market Shares by Disease Class, Indication, Analysis Platform, Analysis...