Pitt Pediatrics congratulates professor Jerry Vockley, MD, PhD, FACMG, director of the Division of Genetic and Genomic Medicine and Center for Rare Disease Therapy, on receipt of two key grants for development of new therapies for inborn errors of metabolism.
The 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 patents unable to metabolize the amino acid phenylalanine. Untreated, this condition, which is the most common inborn error of metabolism identified by newborn screening in the United States, leads to devastating neurodevelopmental symptoms that can be eliminated by early diagnosis and treatment. However, current therapies are difficult to maintain lifelong and better options are needed. The experiments will leverage a new porcine model of PKU developed in collaboration with professor Robert D. Nicholls, DPhil.
A second grant from Kriya Pharmacuticals is for development of gene therapy for very long chain acyl-CoA dehydrogenase deficiency, a defect in fat metabolism also identified in babies through newborn screening. The only FDA approved medication for this disorder, also developed by Vockley, improves, but does not eliminate symptoms, leaving additional clinical need. Studies of both disorders will serve as proof of concept for future clinical trials in patients.