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.
Industry Expertise (3)
Health and Wellness
Areas of Expertise (7)
Pediatric Genetics and Metabolism
Urea Cycle Disorders
Enzyme Replacement Therapy
National Institutes of Health: Fellowship, Pediatric Endocrinology and Genetics
University of Wisconsin-Madison: Residency, Pediatrics 1982
University of Wisconsin-Madison: Internship, Pediatrics 1980
Case Western Reserve University: M.D., Pediatrics 1979
Case Western Reserve University: Ph.D., Pediatrics 1976
- Medical Genetics- Clinical Biochemical Genetics Board Certified (1990)
- Pediatrics Board Certified (1984)
Media Appearances (2)
Family hopes trial drug gives brothers a chance against rare Hunter syndrome
Sioux City Journal online
Jason’s doctor, Dr. Joseph Muenzer, who is leading the clinical trial of the drug, idursulfase-IT, at the university, said it “appears to be beneficial in helping stabilize the disease,” offering hope that victims of the illness could live longer, though how long isn’t clear. The drug, which replaces missing enzymes in Hunter patients, is still being tested and hasn’t received government approval. “The key is prevention,” Muenzer said, while cautioning, “Once you lose brain cells, you’re never going to get them back.”...
Hopes of family, firm collide on unproven drug
Boston Globe online
In all, it could be two to three years, at best, before the drug comes to market, said Dr. Joseph Muenzer, a pediatrics and genetics professor at the University of North Carolina at Chapel Hill who is the principal investigator for the drug’s US clinical trial, and who is familiar with Jack’s case. “By then, [Jack] will lose more abilities and at some point, it may be irreversible,” Muenzer said. “I can’t blame them for trying but compassionate use would just destroy a trial. Once you give it to one, what about the next family? And there will be a next family.” Muenzer and other rare disease advocates say the FDA needs to develop new criteria to make it easier for drugs that treat rare disorders to be approved, because there are so few patients to draw from for clinical trials...
Mucopolysaccharidosis I: Management and Treatment GuidelinesPediatrics
2009 OBJECTIVE: Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (∼1 case per 100000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I necessitate the establishment of system-specific management guidelines for this condition...
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Genetics in Medicine
2006 PURPOSE: To evaluate the safety and efficacy of recombinant human iduronate-2-sulfatase (idursulfase) in the treatment of mucopolysaccharidosis II...
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)The Journal of Pediatrics
2004 OBJECTIVE: To confirm the efficacy and safety of recombinant human α-L-iduronidase (laronidase) in patients with mucopolysaccharidosis I (MPS I)...
Enzyme-replacement therapy in mucopolysaccharidosis INew England Journal of Medicine
2001 BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme α-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human α-L-iduronidase in patients with this disorder...
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms...AJHG
2001 ABSTRACT: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial β-oxidation defect, and it is potentially fatal. Eighty percent of patients are homozygous for a common mutation, 985A→G, and a further 18% have this mutation in only one disease allele. In addition, a large number of rare disease-causing mutations have been identified and characterized. There is no clear genotype-phenotype correlation...