Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Status: Completed
Location: See all (3) locations...
Study Type: Observational

Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e. the specific genetic disorder responsible for the illness); 2) available modifying interventions, whether medical or behavioral; and 3) social risks in the children's families, neighborhoods and communities. A valid and reliable telephone-based surveillance system can successfully collect the data required to elucidate these developmental, adaptive and behavioral strengths and difficulties.

Participation Requirements
Sex: All
Minimum Age: 1 day
Maximum Age: 18
Healthy Volunteers: No

• Children aged 1 to 84 months who have been diagnosed with MPS types I, II, III or VI. Children aged 1 to 84 months who have been diagnosed with some other lysosomal disease. Children aged birth to 18 years who have been diagnosed with Krabbe disease, or who have a positive screening for Krabbe disease.

United States
University of Chicago
University of Minnesota
New York
Hunter James Kelly Institute
Time Frame
Start Date: January 2009
Completion Date: July 23, 2016
Target number of participants: 19
Michael Msall, Chester B. Whitley, Nancy Lyon, Patricia K. Duffner
Collaborators: National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), State University of New York at Buffalo, Hunter James Kelley Research Institute, Rare Diseases Clinical Research Network, University of Minnesota, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Leads: University of Chicago

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