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

Summary

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.

Conditions

• Mucopolysaccharidosis Type I (MPS I)
• Mucopolysaccharidosis Type II (MPS II)
• Mucopolysaccharidosis Type III (MPS III)
• Mucopolysaccharidosis Type VI (MPS VI)
• Krabbe Disease

Sponsors & Collaborators

• Rare Diseases Clinical Research Network

  collaborator NETWORK

• National Center for Advancing Translational Sciences (NCATS)

  collaborator NIH

• National Institute of Neurological Disorders and Stroke (NINDS)

  collaborator NIH

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  collaborator NIH

• University of Minnesota

  collaborator OTHER

• State University of New York at Buffalo

  collaborator OTHER

• University of Chicago

  lead OTHER

Principal Investigators

• Michael Msall, M.D. · University of Chicago

• Patricia K. Duffner, M.D. · Hunter James Kelly Institute in Buffalo, New York

• Chester B. Whitley, Ph.D., M.D. · University of Minnesota

• Nancy Lyon, CPNP · Hunter James Kelly Institute in Buffalo, New York

Eligibility

Min Age

1 Day

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2009-01-31

Primary Completion

2016-07-23

Completion

2016-07-23

Countries

• United States

Study Locations