Inborn Errors of Metabolism
Joseph Muenzer, MD, PhD, is a Professor in the Department of Pediatrics at the University of North Carolina at Chapel Hill (UNC-CH), where he has practiced since 1993. He received a doctor of medicine degree (1976) and PhD in biochemistry (1979) from Case Western Reserve University in Cleveland, Ohio. He completed a residency in pediatrics at the University of Wisconsin Hospitals, Madison, and a genetic/endocrine fellowship at the National Institute of Child Health and Human Development, NIH, in Bethesda, Maryland. Dr Muenzer is actively involved in the diagnosis, management and treatment of patients with inborn errors of metabolism, especially the mucopolysaccharidoses (MPS) and infants detected by tandem mass spectrometry newborn screening. He is board certified in pediatrics and clinical biochemical/molecular genetics. He is the Director of the Division of Genetics and Metabolism Biochemical Genetics Laboratory and is Assistant Director of the Pediatric Metabolism Screening Laboratory, UNC Hospitals, North Carolina. He has been actively involved in developing new treatments for the MPS disorders. His basic research has focused on the development of gene therapy using adeno-associated viral vectors as a treatment for neurological disease in the mucopolysaccharidoses. He has created a mouse model for Hunter syndrome (MPS II) to aid in development of this new treatment approach for genetic disorders. His clinical research has been focused on the development of enzyme replacement therapy for the mucopolysaccharidoses. Dr. Muenzer has been a principal investigator for recombinant enzyme replacement clinical trials for both MPS I and MPS II. He was the principal investigator for the MPS II Phase I/II Enzyme Replacement Clinical Trial and was the lead investigator for the pivotal MPS II Phase II/III Enzyme Replacement Clinical Trial.
His research interests have focused on the development of new therapies for patients with MPS. He has created a mouse model for Hunter syndrome (MPS II). Dr. Muenzer has utilized the MPS II mouse to develop adeno-associated viral (AAV) gene therapy as a treatment for the neurological disease in the severe form of MPS II. His clinical research interests are directed towards the development of recombinant enzyme replacement therapy (ERT) for MPS. He was a principal investigator for the ERT clinical trials for MPS I and the lead international investigator for the ERT clinical trials for MPS II which resulted in approval of new treatments for patients with MPS I and MPS II. Dr. Muenzer is currently the principal investigator for a phase I/II intrathecal enzyme replacement clinical trial for the severe form of MPS II.
Dr. Joeseph Muenzer is the leading MPS specialist in the U.S. and someone we travel to North Carolina to see every six moths. Dr. Meunzer manages Jason and Justin’s care along with Dr. Elio Pedro (Hackensack University Medical Center).