FDA Green Lights Human Clinical Trial of BGTC Developed Gene Therapy for MSD

Rare Daily Staff

The U.S. Food and Drug Administration has cleared the way for human clinical trials of a gene therapy targeting the ultra-rare metabolic disease multiple sulfatase deficiency.

The therapy, developed under the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium (AMP BGTC), will now advance into a first-in-human clinical trial designed to evaluate safety, tolerability, and early signs of therapeutic activity.

Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder caused by mutations in the SUMF1 gene, leading to progressive neurological decline, impaired development, and a life expectancy of approximately 13 years.

The gene therapy builds on foundational work from researchers at the University of Texas Southwestern Medical Center, with preclinical validation conducted at The Jackson Laboratory. The upcoming clinical study will be led by investigators at Children’s Hospital of Philadelphia.

The National Center for Advancing Translational Sciences, part of the National Institutes of Health and a central partner in the AMP BGTC public–private partnership, sponsored the application to begin clinical trials. The consortium brings together NIH institutes, the FDA, biopharma companies, and nonprofit organizations to accelerate the development of customized gene therapies for rare diseases.

Although the MSD program entered the consortium with substantial preclinical work already underway, AMP BGTC support helped bridge the gap to the clinic. The partnership contributed to key manufacturing efforts, including production of clinical-grade material, and coordinated regulatory and clinical development activities needed to secure FDA clearance.

The clinical protocol was developed through a collaborative process involving consortium experts as well as patient advocates and families affected by MSD. Organizers said this approach helped align the trial design with both scientific priorities and the practical needs of the patient community.

Stakeholders emphasized that the milestone reflects years of coordinated effort across academia, government, industry, and patient advocacy groups, including the United MSD Foundation. The consortium model is intended to streamline development pathways for ultra-rare conditions, where traditional commercial incentives are often limited.