Genetic metabolic diseases are conditions that disrupt an individual's metabolism, which is the chemical process responsible for converting food into energy and eliminating toxins from the body. These diseases develop when a genetic flaw causes a protein or enzyme to be absent or faulty, interfering with certain vital metabolic functions. There are hundreds of different genetic metabolic diseases, most of which are rare and carry significant morbidity and can be life-limiting.

When called upon, the Genetic Metabolic Diseases Advisory Committee will provide the FDA independent, knowledgeable advice and recommendations on technical, scientific and policy issues around medical products for genetic metabolic diseases. Committee members will evaluate evidence on key issues about 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, M.D., 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.

"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, M.D., M.H.S., 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."

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.

The committee 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. 

The FDA aims to cultivate a diverse committee membership with respect to gender, race, ethnicity and disability. The FDA is encouraging qualified individuals interested in serving or nominating a representative to serve on the committee to submit nominations.