New Grants to Expand Development of Therapies for Inborn Errors of Metabolism

Jerry Vockley, MD, PhD, FACMG, professor of Pediatrics and director of the Division of Genetic and Genomic Medicine and Center for Rare Disease Therapy, was awarded two recent grants designed to help develop new therapies for inborn errors of metabolism.

Dr. Vockley’s first grant from Nestle Pharmaceuticals will examine the efficacy of an orally administered enzyme substitution therapy for phenylketonuria (PKU), a disorder of protein metabolism that leaves patients unable to metabolize the amino acid phenylalanine. PKU, which is the most common inborn error of metabolism identified by newborn screening in the United States leads to devastating neurodevelopmental symptoms if left untreated. Early diagnosis and treatment could mitigate these outcomes, however current therapies are difficult to maintain over the lifespan making better options for patients an urgent need. The grant and its investigations will leverage a new porcine model of PKU developed in collaboration with Robert D. Nicholls, DPhil, professor of Pediatrics in the Division of Genetic and Genomic Medicine.

Dr. Vockley’s second grant, from Kriya Pharmaceuticals, is designed to develop a gene therapy for very long chain acyl-CoA dehydrogenase deficiency (VLCADD), a defect in fat metabolism typically identified in babies through newborn screening. The only U.S. Food and Drug Administration-approved medication for this disorder, also developed by Dr. Vockley, improves, but does not eliminate the symptoms of the disorder, leaving patients with the disorder in need of improved therapeutics. 

Dr. Vockley’s studies will serve as proof-of-concept work for potential future clinical trials in patients with PKU and VLCADD.