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Department of Pediatrics

Research & Clinical Trials

What We Do

Under the leadership of Dr. Muenzer, UNC has moved to the forefront of MPS discovery through more than two decades of clinical trial work and research. Dr. Muenzer’s career has included the creation of a mouse model – an invaluable research tool – for MPS II and the publication of more than 50 articles relating to the MPS disorders.

The Muenzer MPS Research and Treatment Center builds upon that existing work in several important ways:

  • Expansion of the UNC MPS basic science and translational research efforts through recruitment of new faculty members with support for their early years, prioritize junior faculty and encouraging MPS related research careers.
  • Development of funding for PhD students researching MPS, ensuring that our best and brightest in the next generation of researchers are supported;
  • Enhancement of educational opportunities across the UNC School of Medicine, creating learning opportunities for UNC residents and fellows, medical students, and genetic counseling students.

Research Posters & Publications

Early Identification of MPS I Through Newborn Screening: Clinical Insights from Siblings with the W402X/L238Q Genotype

WORLD Symposium 2026

MPS I is a lysosomal storage disorder caused by deficiency of the α-L-iduronidase enzyme. This poster describes a sibling pair identified through newborn screening, enabling early diagnosis and treatment in the newborn and leading to diagnosis of an older sibling with previously unrecognized disease.
 Download Poster (PDF)

Outcomes of Hematopoietic Stem Cell Transplantation in Individuals with MPS II (Hunter Syndrome)

WORLD Symposium 2026

MPS II (Hunter syndrome) is a lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. This study evaluates outcomes of individuals who have undergone hematopoietic stem cell transplantation (HSCT), including complications, adaptive behavior outcomes, and caregiver perspectives.
Download Poster (PDF)

Delphi Survey for Updated MPS II Clinical Guidelines

WORLD Symposium 2026

MPS II is a rare genetic disorder with evolving treatment approaches and limited global expertise. A Delphi survey of international clinicians was conducted to gather consensus on clinical management practices to help inform updated treatment guidelines.
Download Poster (PDF)

Resources

This toolkit from Global Genes with a step-by-step guide to walk families through the process of joining and participating in a clinical trial from start to finish. One of the key aims of this guide is to help families advocate for themselves and their loved ones throughout the process. It is not MPS specific but mayprovide useful information.

The National Organization for Rare Diseases (NORD) has developed a free educational series to help teach patients and families about the steps involved in developing a new drug treatment, particularly for rare diseases. The goal of this educational series is to provide families with the knowledge to empower them to effectively engage with and contribute to the drug development process.