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

Descriptive Information
Brief Title † Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Official Title † Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Brief 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.
Detailed Description Children who have lysosomal disease experience declines in health status and central nervous system integrity which result in motor, communication, self-care, learning and behavioral challenges. Medical interventions such as enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation can improve the health and functioning of children with lysosomal disease. To date, however, there is no established system for evaluating the health status, developmental status, behavioral outcomes or functional outcomes of these preschool-aged children across time and differing settings. The primary objective of this study is to develop a valid and reliable telephone-based data-gathering system for obtaining health status data, developmental status data, behavioral outcomes data, and functional outcomes data which reflect skills of daily living including feeding, moving, communicating and responding to others. The secondary objective of this study is to assess the validity of several early-childhood standardized assessment tools as compared to the standard neuropsychological assessment battery specified by the Lysosomal Disease Network's 'Neurobehavioral Core.' The third objective of this study is to describe the impact of lysosomal disease upon the families of lysosomal disease-affected children.
Study Phase N/A
Study Type † Observational
Study Design † Observational Model: Cohort, Time Perspective: Prospective
Primary Outcome Measure † Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
Secondary Outcome Measure † Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
Condition † Mucopolysaccharidosis Type I (MPS I) Mucopolysaccharidosis Type II (MPS II) Mucopolysaccharidosis Type III (MPS III) Mucopolysaccharidosis Type VI (MPS VI) Krabbe Disease
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 150
Start Date † January 2009
Completion Date August 2017
Primary Completion Date August 2017
Eligibility Criteria † Inclusion Criteria: 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. Exclusion Criteria: Children who do not have a lysosomal disease are excluded from this study.
Gender Both
Ages N/A - 18 Years
Accepts Healthy Volunteers No
Contacts †† Michael Msall, M.D., 773-834-1025, mmsall@peds.bsd.uchicago.edu
Location Countries † United States
Administrative Information
NCT ID † NCT01938014
Organization ID RDCRN-LDN-6710
Secondary IDs †† U54NS065768
Responsible Party Sponsor
Study Sponsor † University of Chicago
Collaborators †† Rare Diseases Clinical Research Network
Investigators † Principal Investigator: Michael Msall, M.D., University of Chicago
Information Provided By
Verification Date August 2015
First Received Date † August 6, 2013
Last Updated Date August 10, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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