Rare Disease Consortium to Focus on Optimizing AAV Gene Therapies


Partners in the Bespoke Gene Therapy Consortium include the NIH, FDA, private companies such as Pfizer and Biogen, and non-profits.

The National Institutes of Health (NIH), the FDA, 10 pharmaceutical companies, and 5 non-profit organizations are partnering to launch the Bespoke Gene Therapy Consortium (BGTC), part of the NIH Accelerating Medicines Partnership (AMP) program, to accelerate the development of gene therapies for the treatment of rare diseases.1

“Most rare diseases are caused by a defect in a single gene that could potentially be targeted with a customized or ‘bespoke’ therapy that corrects or replaces the defective gene,” Francis S. Collins, MD, PhD, director, NIH, said in a statement.1 “There are now significant opportunities to improve the complex development process for gene therapies that would accelerate scientific progress and, most importantly, provide benefit to patients by increasing the number of effective gene therapies.”

The BGTC aims to get a better understanding of adeno-associated virus (AAV) vector gene delivery and activation of gene expression to improve vector manufacturing and efficiency of AAV gene therapy. To better vector manufacturing, the BGTC, aided by consortium researchers, will develop standard analytic tests to assess manufacturing methods. A secondary aim of the BGTC is to shorten the time between animal and human studies.

“Rare diseases affect 25 to 30 million Americans, but because any given rare disorder affects so few patients, companies often are reluctant or unable to invest the years of research and millions of dollars necessary to develop, test and bring individualized gene therapy treatments for a single disease to market,” Joni L. Rutter, PhD, acting director, National Center for Advancing Translational Sciences (NCATS), NIH, added to the statement.1 “The BGTC aims to make it easier, faster and less expensive to pursue bespoke gene therapies in order to incentivize more companies to invest in this space and bring treatments to patients.”

WATCH NOW: Access to Gene Therapies for Rare Diseases: Barry Byrne, MD, PhD

The BGTC plans to fund between 4 to 6 clinical trials assessing therapies for rare diseases. These diseases will likely be monogenic with no gene therapies currently in clinical development, but with research or preclinical studies establishing proof-of-concept of potential therapies. The therapies will use established AAV vectors.

The BGTC also aims to streamline regulatory processes for FDA approvals of gene therapies shown to be safe and effective. One of the strategies the consortium plans to employ is developing standardized preclinical studies.

“By leveraging on experience with a platform technology and by standardizing processes, gene therapy product development can be accelerated to allow more timely access to promising new therapies for patients who need them most,” Peter Marks, MD, PhD, director, Center for Biologics Evaluation and Research, FDA, added to the statement.1 “FDA is committed to developing a regulatory paradigm that can advance gene therapies to meet the needs of patients with rare diseases.”

The private partners in the coalition are Biogen, Janssen, Novartis, Pfizer, REGENXBIO, Spark Therapeutics, Takeda Pharmaceutical, Taysha Gene Therapies, Thermo Fisher Scientific, and Ultragenyx Pharmaceuticals. The non-profit partners are the Alliance for Regenerative Medicine, the American Society of Gene and Cell Therapy, National Organization for Rare Disorders, Quincy, and The National Institute for Innovation in Manufacturing Biopharmaceuticals.

Various NIH entities are participating in the consortium, including NCATS; the Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Eye Institute; National Heart, Lung, and Blood Institute; National Human Genome Research Institute; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Dental and Craniofacial Research; National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; National Institute on Deafness and Other Communication Disorders; and the Brain Research Through Advancing Innovative Neurotechnologies Initiative.

The NIH AMP has other projects that are currently focusing on improving therapeutic development for neurological disorders such as Parkinson disease and Alzheimer disease, autoimmune disorders such as rheumatoid arthritis and systemic lupus erythematosus, common metabolic diseases, schizophrenia, and type 2 diabetes. The BGTC is the first AMP project focused on rare diseases.

While gene therapies represent a revolutionary step forward in the potential treatment of many previously incurable diseases, the therapies have come with a host of challenges. Namely, serious adverse events (AEs) associated with these therapies are garnering more attention and the mitigation of these AEs represent an unmet need in this emerging field. To address these concerns and identify steps forward, the FDA Cellular, Tissue, and Gene Therapies Advisory Committee met last month to discuss these topics.2

GeneTherapyLive previously spoke with Barry Byrne, MD, PhD, director of the University of Florida’s Powell Center for Gene Therapy and advisory committee member, to learn more about adverse events typically observed with gene therapies and takeaways from the FDA meeting. Watch what he had to say below.

1. NIH, FDA and 15 private organizations join forces to increase effective gene therapies for rare diseases. News release. NIH. October 27, 2021. https://www.nih.gov/news-events/news-releases/nih-fda-15-private-organizations-join-forces-increase-effective-gene-therapies-rare-diseases
2. Cellular, Tissue, and Gene Therapies Advisory Committee September 2-3, 2021 Meeting announcement. US FDA. September 2-3, 2021. https://www.fda.gov/advisory-committees/advisory-committee-calendar/cellular-tissue-and-gene-therapies-advisory-committee-september-2-3-2021-meeting-announcement
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