Shop
Events
Donate

MitoAction

Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease

Mitochondrial Disease
Fatty Acid Oxidation Disorders
- About FAODs
- FAOD Programs and Support
Programs & Support
Join the Cause
About Us
Show Search

Research & Clinical Trials Update

View Presentation

About the Speaker

Dr. Jerry Vockley

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Geneticspeer-reviewed and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine.

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 270 peer reviewed scholarly articles, is the principle investigator on four NIH grants and a co-investigator on 7 others. He has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.

Dr. Melanie Gillingham

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders. In 2014, a group of FAO researcher’s under the leadership of Dr. Jerry Vockley founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). The INFORM continues to host annual science meetings and work on clinical trials and funding for projects within the group’s members.

Most recently, Drs. Vockley and Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham has recently been awarded an NIH grant to conduct a larger natural history study of LCHAD retinopathy with a goal of recruiting 44 subjects over the next 2 to 4 years from the INFORM network.