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Study Description

Mucopolysaccharidosis (MPS) types I, II, IV, VI and VII, are inherited diseases that result from the bodies inability to break down large sugar molecules that are by-products of metabolism. MPS affects most organs of the body and causes abnormalities in the liver, spleen, bones, and brain. We are studying the central nervous system (primarily the brain) so we can better understand the nature of the problems individuals with MPS I, II, IV, VI and VII have so we can find ways of better treating these problems. We would like to find out about the changes in the brain of individuals with MPS I, II, IV, VI and VII using data from MRI and neuropsychological tests. This is a longitudinal study so patients who enroll will need to be seen 3 times over 5 years. The longitudinal nature of the study allows us to make conclusions about how changes in some structures of the brain and changes in cognitive ability are related.

The research objectives are:

  1. To identify abnormalities of brain (and central nervous system) structure and function in patients with MPS I, II, IV, VI and VII, regardless of how they are being treated or have been treated in the past; and to track disease progression over time.
  2. To examine the degree to which independent variables (e.g., age at first treatment, severity of disease, types of medical abnormalities, mutation, medical events, and sensory abnormalities) have an impact on both functional and structural outcomes as well as on quality-of-life.
  3. To identify, through longitudinal study, those measures that most accurately reflect the current disease state.

This is a longitudinal study of 75-100 individuals with either MPS I, II, IV, VI and VII. Those participating in the study will be evaluated 3 times over 5 years. The primary site for this study is the University of Minnesota but there are an additional 6 centers in the United States and Canada that are also participating and will provide data for analysis. You will need to be able to travel to Minnesota or one of the participating centers in order to be a part of this study.

Authorized Access
Publicly Available Data
  Link to other NCBI resources related to this study
Study Inclusion/Exclusion Criteria

Inclusion criteria:

  • Any MPS I, II, IV, VI or VII child or adult ages 6-25

Exclusion Criteria for Neuroimaging Participants with:

  • pacemakers
  • any indwelling electronic device including programmable shunts
  • orthodontic braces unless they are not made of metal
  • other implanted metal in the body other than titanium
  • unable to stay still during MRI because of low cognitive function, behavioral dysregulation, or young age if the patient is not a clinical patient having sedation/anesthesia
  • pregnancy

Exclusion Criteria for Neuropsychological and Neurobehavioral Testing Participants who:

  • are too functionally impaired for testing

Study History

  • Study Activated September 19, 2010
  • First Accrual December 17, 2010

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Authorized Data Access Requests
See articles in PMC citing this study accession
Study Attribution
  • Study Chair
    • Chester Whitley, PhD, MD. University of Minnesota, Minneapolis, MN, USA.
  • Participating Site Principal Investigators
    • Paul Harmatz, MD. UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
    • Sumar Shankar, MD. Emory University School of Medicine, Decatur, GA, USA.
    • Heather Lau, MD. New York University School of Medicine, New York, NY, USA.
    • Ronald Cohn, MD. Hospital for Sick Children, Toronto, Canada.
    • Morton Cowan, MD. UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
    • Lynda Polgreen, MD, MS. LA BioMed at Harbor-UCLA Medical Center, Torrance, CA, USA.
  • Current Funding Source
    • U54-NS065768-06. National Institutes of Health, Bethesda, MD, USA.