Adeno-associated viruses, illustration
Credit: Kateryna Kon/Science Photo Library

The U.S. Food and Drug Administration (FDA) this week announced it is creating a new advisory committee related to genetic metabolic diseases. This move brings forward a field that has long languished. These conditions are complex, hard to even diagnose, and hard to treat. They include: Fabry disease, Gaucher disease, and lysosomal storage disorders. 

The field has been driven forward by companies such as diagnostic firm Centogene, and gene therapy specialists, including Uniqure and 4D Molecular Therapeutics. Maze Therapeutics in the U.S. and Scenic Biotech in the Netherlands are developing drugs for lysosomal storage disease. Niemann-Pick disease, a type of lysosomal storage disease, already has an expected market value of almost $130M. And it is an area of tremendous unmet need. Many patients are diagnosed late after the onset of neurological disease and other musculoskeletal disabilities.

“Genetic metabolic diseases include very rare diseases that individually affect a limited number of patients. Drug development for these conditions has unique and complex challenges, therefore few treatments are available to patients,” said Janet Maynard, MD, MHS, director of ORPURM. “This new advisory committee will provide a forum for discussion of complicated issues with specialized and diverse technical and scientific experts in the field of metabolic genetics.”

Genetic metabolic diseases disrupt an individual’s metabolism. There are many different genetic metabolic diseases, most of which are rare and carry significant morbidity and can be life-limiting.

The Genetic Metabolic Diseases Advisory Committee will provide the FDA independent advice and recommendations on technical, scientific, and policy issues around medical products for genetic metabolic diseases. Committee members will evaluate evidence on the applications brought before the advisory committee and offer their recommendations for FDA consideration. The group will be comprised of experts in the areas of metabolic genetics, management of inborn errors of metabolism, small population trial design, translational science, pediatrics, epidemiology, or statistics and related specialties. 

“Advisory committees allow the FDA to receive invaluable input from clinicians, industry experts, academia, patients, caregivers and other external stakeholders when evaluating the potential benefits and risks of a new therapy. They are an essential part of the FDA’s work,” said Patrizia Cavazzoni, MD, director of the FDA’s Center for Drug Evaluation and Research (CDER). “These expert panels support the agency by helping ensure the FDA’s decisions on the safety and efficacy of drug products are informed and in line with our priorities and goals.”

The advisory committee has been established to advise the agency on products used for the diagnosis, prevention or treatment of genetic metabolic diseases under the purview of the Division of Rare Diseases and Medical Genetics. This division, established in CDER’s Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine (ORPURM) in 2020, oversees the development of these medical products for genetic metabolic diseases.

The agency says the committee will consist of nine voting members, including the committee chairperson. Individuals nominated as scientific members must be technically qualified experts in their relevant fields and have experience interpreting complex data. It will include a consumer representative and an industry representative. Non-Federal members of this committee will serve either as special government employees or non-voting representatives. Members will be invited to serve for overlapping terms of up to four years. 

Also of Interest