TRUMBULL, CT — The Rett Syndrome Research Trust (RSRT) has joined the Accelerating Medicines Partnership® Bespoke Gene Therapy Consortium (AMP®BGTC), a public-private collaboration led by the Foundation for the National Institutes of Health (FNIH) and the National Institutes of Health (NIH), is intended to accelerate new gene therapies for patients with rare diseases. RSRT is one of two disease-specific advocacy groups to join the Consortium since it was launched in October 2021, in addition to CureDuchenne.
Rett syndrome, which afflicts about 350,000 individuals worldwide, mostly females, is caused by random mutations on the MECP2 gene located on the X chromosome. Rett syndrome is one of approximately 80% of rare genetic diseases caused by mutations in a single gene. Gene therapy, a process that replaces a defective gene with a functional one, has the potential to cure or significantly reduce the devastating symptoms of Rett, which include losing acquired skills such as walking, talking, and control of hands, and symptoms such as scoliosis, extreme anxiety, tremors, seizures, hyperventilation, and digestive problems. Most people with Rett syndrome live into adulthood, requiring round-the-clock care.
“Having a seat at the Bespoke Gene Therapy Consortium table to represent Rett syndrome and the unique gene therapy challenges around neurological disorders is an honor and special privilege,” said Randall Carpenter, MD, RSRT’s Chief Medical Officer. “Collaborating with this distinguished group of scientists, industry representatives, and regulators allows RSRT to more effectively navigate the gene therapy landscape, and shape the considerations and decisions that will affect the Rett syndrome community and the companies pursuing curative therapeutics for Rett.”
Gene therapies have been successfully used to treat several common genetic diseases and they can be tailored, or “bespoke,” for small populations or even a single individual. Although Adeno-associated virus (AAV) vectors are the most common platform for gene delivery, the development process is complex and lacks common biologic, manufacturing, and regulatory standards. These limitations in manufacturing and regulatory approval requirements have led to a bottleneck that is slowing development. The Consortium will support a series of research projects and clinical trials of new gene therapies, to be conducted by the NIH, to create new tools and resources for clinical development and regulatory evaluation of AAV therapies.
The BGTC effort aims to make gene therapy more accessible by creating a development template in order to expedite the delivery of novel therapies for genetic disorders such as Rett syndrome.
“The Bespoke Gene Therapy Consortium aims to solve existing problems for the gene therapy field collaboratively, providing alignment on requirements for successful development across companies and disorders,” said Jana von Hehn, PhD, RSRT’s Senior Director of Research and Clinical Strategy. “This collaborative approach will create transparency around methodology and regulatory requirements, and should reduce cost and streamline the ability to use AAV as a delivery technology, ultimately expediting curative therapeutics for Rett syndrome,” she said.
In partnership with leading scientists and biopharmaceutical companies, RSRT is attacking Rett from every angle by pursuing six curative strategies: gene replacement, gene editing, MECP2 reactivation, RNA editing, RNA trans-splicing, and protein replacement. Today there are 16 curative therapeutic programs in the drug pipelines of seven biopharmaceutical companies and eight academic institutions. Advances by the BGTC will benefit all six of RSRT’s curative strategies because they all require delivery of an agent that targets the root cause of Rett syndrome, MECP2 mutations. Taysha Gene Therapies, one of the companies spearheading RSRT’s gene replacement strategy to cure Rett, is also a Consortium member.
The BGTC is the latest initiative to emerge from the Accelerating Medicines Partnership Program, a public-private collaboration among the NIH, the Food and Drug Administration, the pharmaceutical industry, and patient organizations to speed drug development across different diseases. At a cost of $76.5 million over five years, the BGTC brings together the resources of partner organizations spanning the public, private, and nonprofit sectors.
ABOUT THE RETT SYNDROME RESEARCH TRUST
RSRT is a nonprofit organization with a highly personal and urgent mission: achieving a cure for Rett syndrome and related disorders caused by defects in the MECP2 gene. Since its founding in 2008, RSRT has awarded $64 million, more than any other Rett organization in the world, to leading scientists pursuing targeted research on Rett. RSRT funds and spearheads global scientific and clinical activities advancing the most promising curative approaches. To date, every biopharmaceutical company pursuing a cure for Rett syndrome is doing so because they leveraged discoveries and resources incubated with RSRT funding. A highly efficient nonprofit, RSRT has spent an average of 95 percent of every dollar on its research program. To learn more, please visit www.reverserett.org.
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.