FDA Approves First Gene Therapy Treatment for Sanfilippo Syndrome Type A, Developed at the Abigail Wexner Research Institute at Nationwide Children’s Hospital

(COLUMBUS, Ohio) - Today, the Abigail Wexner Research Institute at Nationwide Children's Hospital celebrated the Food and Drug Administration's (FDA) approval of FAYUVI™ for Sanfilippo Syndrome Type A, following years of research in its Jerry R. Mendell Center for Gene Therapy to help patients with devastating diseases.

The FDA approved the treatment for pediatric patients with mucopolysaccharidosis type IIIA (MPS IIIA), known as Sanfilippo Syndrome Type A. Kevin Flanigan, MD, director of the Jerry R. Mendell Center for Gene Therapy at the Abigail Wexner Research Institute, led the first clinical trial for a systemic gene therapy for this disorder.

"The road to approval has been long, as we dosed the first study participant in 2016," Dr. Flanigan said. "This approval is particularly gratifying because we are finally able to provide a meaningful gene therapy to families affected by such a devastating childhood disease."

Nationwide Children's will be a qualified treatment center for FAYUVI™, becoming part of a network across the country with the advanced facilities and specially trained staff needed for the administration of FAYUVI™.

Affecting the brain and spinal cord, Sanfilippo Type A is the most severe form of Sanfilippo Syndrome, a group of four devastating lysosomal storage diseases, each of which is caused by a deficiency in an essential enzyme that leads to an accumulation of complex polysaccharides within cells. In MPS IIIA, mutations in the SGSH gene affect many organs but particularly lead to neuronal dysfunction and neuron loss. Children with MPS IIIA appear normal at birth, but develop severe, progressive developmental delays and neurological disorders, leading to early mortality. This disease is considered ultrarare, affecting 1 in 70,000 live births, and until now no treatment has been available.

FAYUVI™ is an AAV9 gene-replacement therapy co-invented by Douglas McCarty, PhD, and Haiyan Fu, PhD when they were investigators in the Mendell Center for Gene Therapy. This gene therapy program was licensed by Abeona Therapeutics in 2013, then transferred to Ultragenyx in 2022. The therapy packages the entire SGSH gene into an adeno-associated virus serotype, which is then administered by an intravenous infusion to deliver it to cells both inside and outside the nervous system.

As an international leader in pediatric research, Nationwide Children's is actively involved in more than 3,000 clinical research projects to transform health. In the gene therapy space, researchers at Nationwide Children's led the Phase I clinical trial that was the first to study gene therapy for spinal muscular atrophy type 1 (SMA1), the most severe form of SMA. This seminal research performed at Nationwide Children's led to the development and 2019 FDA approval of Zolgensma^® for SMA, and eventually to the 2025 approval of Itvisma, the only one-time gene replacement therapy approved for older children, teens and adults with a confirmed mutation in the SMN1 gene. Nationwide Children's researchers also led the first Phase 1 study of a systemic gene therapy for Duchenne muscular dystrophy, which eventually led to the development and 2023 FDA approval of ELEVIDYS for DMD.

"Nationwide Children's Mendell Center for Gene Therapy is an international leader in cell and gene-based therapeutics with a robust pipeline of these therapies in development for numerous genetic conditions," said Dennis Durbin, MD, MSCE, president of the Abigail Wexner Research Institute. "Our sustained investment in research infrastructure, regulatory compliance, scientific expertise and technology commercialization allows us to successfully translate pivotal discoveries into long-awaited clinical use."

Ultragenyx has selected Andelyn Biosciences, a leader in viral vector production, as a commercial manufacturer of FAYUVI™, which is also manufactured at Ultragenyx's Gene Therapy Manufacturing Facility. Andelyn was spun out of Nationwide Children's as a Contract Development and Manufacturing Company in 2020, as an evolution of the hospital's viral vector manufacturing core. FAYUVI™ is Andelyn's first approved commercial product.

Ultragenyx is a biopharmaceutical company developing novel products for the treatment of serious rare and ultrarare genetic diseases. Support for MPS research at Nationwide Children's, and particularly for a critical Sanfilippo natural history study that preceded the clinical trial, was provided by three parent-run foundations: Sanfilippo Research Foundation (Ben's Dream), The Children's Medical Research Foundation, Inc. (A Cure for Kirby) and The Sanfilippo Children's Research Foundation (A Life for Elisa). Additional research funding for MPS research was provided to Nationwide Children's by Reagan's Hope and the Cure Sanfilippo Foundation. Nationwide Children's has received licensing and milestone payments as a result of the licensing agreement with Ultragenyx and will benefit from royalties. Commercialization revenue is reinvested into all research programs across the Abigail Wexner Research Institute at Nationwide Children's.

Resources:

• Additional details from Ultragenyx
• Fayuvi for patients

About The Abigail Wexner Research Institute at Nationwide Children's Hospital
Named to the Top 10 Honor Roll on U.S. News & World Report's 2026-27 list of "Best Children's Hospitals," Nationwide Children's Hospital is one of America's largest not-for-profit free-standing pediatric health care systems providing unique expertise in pediatric population health, behavioral health, genomics and health equity as the next frontiers in pediatric medicine, leading to best outcomes for the health of the whole child. Integrated clinical and research programs are part of what allows Nationwide Children's to advance its unique model of care. As home to the Department of Pediatrics of The Ohio State University College of Medicine, Nationwide Children's faculty train the next generation of pediatricians, scientists and pediatric specialists. The Abigail Wexner Research Institute at Nationwide Children's Hospital is one of the Top 10 National Institutes of Health-funded free-standing pediatric research facilities in the U.S., supporting basic, clinical, translational, behavioral and population health research. The AWRI is comprised of multidisciplinary Centers of Emphasis paired with advanced infrastructure supporting capabilities such as technology commercialization for discoveries; gene- and cell-based therapies; and genome sequencing and analysis. More information is available at NationwideChildrens.org/Research.

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