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Joseph Muenzer, MD, PhD

Department of Pediatrics
University of North Carolina
101 Manning Drive
Chapel Hill, North Carolina, United States

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 his MD and PhD in Biochemistry from Case Western Reserve University. Dr. Muenzer completed a Residency in Pediatrics at the University of Wisconsin Hospitals and a Genetic/Endocrine Fellowship at the National Institute of Child Health and Human Development. He 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. Joseph Muenzer 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 Hospital. 

Joseph Muenzer 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. 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.


Representative Publications:

A Multicenter Open-Label Extension Study of Intrathecal Heparan-N-Sulfatase in Patients With Sanfilippo Syndrome Type A

Improvement in Time to Treatment, But not Time to Diagnosis, In Patients With Mucopolysaccharidosis Type I

Therapy Development for the Mucopolysaccharidoses: Updated Consensus Recommendations for Neuropsychological Endpoints

The Nature and Impact of Neurobehavioral Symptoms in Neuronopathic Hunter Syndrome