FNIH Launches a Transformative Partnership to Streamline Development of Treatments for Rare Diseases

North Bethesda, MD, October 27, 2021 – The Foundation for the National Institutes of Health (FNIH) and the National Institutes of Health (NIH) have launched the Bespoke Gene Therapy Consortium (BGTC), a public-private collaboration to accelerate the delivery of promising new gene therapies to patients with rare diseases that currently lack effective treatments.

Between 25 and 30 million Americans and their families live with the devastating effects of one of more than 7000 rare diseases. Of these, more than 5000 are due to genetic causes, affecting over 18 million patients in the United States. These patients frequently suffer without hope of treatment, as such rare diseases are often overlooked in favor of treatments for common diseases.

Still, these diseases can be vulnerable to highly targeted treatments: approximately 80% of rare genetic diseases are caused by a single damaged gene. One treatment, which has emerged that offers hope, is gene therapy—a process that replaces the defective gene with a functional one. Gene therapies have been successfully used to treat several common genetic diseases (e.g., cystic fibrosis), and they can in fact be tailored, or “bespoke,” for a very small population or even a single individual. But the development process is also complex and hampered by a lack of common biologic, manufacturing, and regulatory standards. The new effort aims to make gene therapy more accessible by creating a development template that can be used repeatedly to expedite the delivery of novel therapies for many different genetic disorders.

The BGTC is the latest initiative to emerge from the Accelerating Medicines Partnership® (AMP®) Program, a public-private collaboration among the NIH, the Food and Drug Administration (FDA), the pharmaceutical industry, and patient organizations to speed drug development across different diseases. At a cost of $76.5 million over 5 years, the BGTC brings together the resources of 27 partner organizations spanning the public, private, and nonprofit sectors.

“Up until now, the standard clinical trial and regulatory model for new drugs and biologics has made it difficult for drug developers to test and produce gene therapies for rare diseases,” said Dr. Peter Marks, Director of the FDA’s Center for Biologics Evaluation and Research. “The limited number of bespoke gene therapies that have been developed were produced as one-off efforts at a high cost and without consistent processes. By creating a standardized, reusable approach that reduces up-front costs, the BGTC will help to lower these barriers, enabling real progress against a number of intractable diseases.”

The BGTC will focus on the use of adeno-associated virus (AAV) vectors—one of the most effective platforms for gene delivery to address a variety of human diseases. While AAV is the most commonly used tool for delivering healthy genes to cells, there are many aspects of the underlying biology that could be better understood and optimized for treating rare diseases. The partnership will support a series of research projects and clinical trials of new gene therapies to be conducted by the NIH.  These projects will create new tools and resources for AAV clinical development and regulatory evaluation of future AAV therapies.

In all, 11 NIH Institutes, Centers, and Initiatives have joined forces with the FDA, 10 corporations, and five nonprofit groups to form the BGTC.

NIH Institutes and Centers involved include:

  • National Center for Advancing Translational Sciences (NCATS)
  • National Institute for Neurological Disorders and Stroke (NINDS)
  • National Institute of Mental Health (NIMH)
  • National Human Genome Research Institute (NHGRI)
  • National Heart, Lung and Blood Institute (NHLBI)
  • National Institute of Child Health and Human Development (NICHD)
  • National Eye Institute (NEI)
  • National Institute on Deafness and Other Communication Disorders (NIDCD)
  • National Institute of Dental and Craniofacial Research (NIDCR)
  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
  • The Brain Research Through Advancing Innovative Neurotechnologies® (BRAIN) Initiative, an interagency partnership between the NIH, NSF, and DARPA

Private partners include:

  • Alliance for Regenerative Medicine (ARM)
  • American Society of Gene & Cell Therapy
  • Biogen Inc.
  • CureDuchenne
  • Janssen Research & Development, LLC
  • National Organization for Rare Disorders (NORD)
  • Novartis Institutes for BioMedical Research
  • Pfizer Inc.
  • Spark Therapeutics
  • Takeda Pharmaceutical Company Limited
  • Taysha Gene Therapies
  • The National Institute for Innovation in Manufacturing Biopharmaceuticals (NIIMBL)
  • Thermo Fisher Scientific
  • Ultragenyx Pharmaceutical

Learn more about the AMP® BGTC partnership

Read what the partners are saying

About the Foundation for the National Institutes of Health (FNIH): The Foundation for the National Institutes of Health creates and manages alliances with public and private institutions in support of the mission of the NIH. The FNIH works with its partners to accelerate biomedical research and strategies against diseases and health concerns in the United States and across the globe. Established by Congress in 1990, the FNIH is a not-for-profit 501(c)(3) charitable organization. For additional information about the FNIH, please visit https://fnih.org.

About the National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, please visit https://www.nih.gov/.

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