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Study Description

Mucopolysaccharidoses (MPS) I, II, and VI are a group of rare, lysosomal storage diseases in which certain enzymes are missing that are normally required for breaking down specific complex carbohydrates.

Deficiencies in these enzymes result in the build-up of toxic substances in various tissues and cause damage to the body's organs. In the past, children diagnosed with MPS I, II, or VI frequently died in early to late childhood. Recent advances in treatments including hematopoietic cell transplantation (HCT) and enzyme replacement therapy (ERT) have been helping children with these disorders live into adulthood. The long term-course of the disease is now unknown. Unfortunately, severe skeletal disease persists for most individuals despite current therapies.

This is a longitudinal study of 50 children and adults with MPS I, II, and VI. Study participants will be evaluated every year for up to 3 years. The purpose of this study is to document the progression of skeletal disease and identify biomarkers that either predict disease severity or could be used as therapeutic targets. This information is needed to:

  • determine long-term benefits and limitations of current treatments including HCT or ERT
  • direct development of further treatment options
  • improve clinical care for children affected by the disorder

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Inclusion Criteria:

  • Diagnosis of MPS I, II, or VI
  • Ability to travel to study center for evaluations.
  • Age ≥ 5 years and ≤ 35 years: age at entry into study must be ≥ 5 years and ≤ 33 years to ensure a minimum of 2 study visits.
  • English speaking (criterion only applicable at the University of Minnesota)

Exclusion Criteria:

  • Pregnancy (will be determined at each study visit)
  • Participation in any other study within the past 12 months which would result in increasing the child's radiation exposure above 500 mrem for the calendar year.
  • Participants who cannot comply with study procedures or have other factors that would inhibit their participation as determined by the PI's discretion.

Study History

  • Study Activated December 21, 2010
  • First Accrual January 11, 2011

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution
  • Study Chairs
    • Lynda Polgreen, MD, MS. LA BioMed at Harbor-UCLA Medical Center, Torrance, CA, USA.
  • Participating Site Principal Investigators
    • Bradley Miller, MD, PhD. University of Minnesota.
    • Ellen Fung, PhD, RD, CCD. Oakland Children's Hospital and Research Center, Oakland, CA, USA.
  • Current Funding Sources
    • U54-NS065768-06. National Institutes of Health, Bethesda, MD, USA.