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



Status:Recruiting
Conditions:Other Indications, Endocrine, Hematology, Metabolic, Metabolic, Metabolic
Therapuetic Areas:Endocrinology, Hematology, Pharmacology / Toxicology, Other
Healthy:No
Age Range:Any - 18
Updated:4/21/2016
Start Date:January 2009
End Date:August 2017
Contact:Michael Msall, M.D.
Email:mmsall@peds.bsd.uchicago.edu
Phone:773-834-1025

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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.

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.

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.
We found this trial at
3
sites
Buffalo, New York 14203
Principal Investigator: Patricia K. Duffner, M.D.
Phone: 716-881-8908
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5801 South Ellis Avenue
Chicago, Illinois 60637
 773.702.1234
Principal Investigator: Michael Msall, M.D.
Phone: 773-834-1025
University of Chicago One of the world's premier academic and research institutions, the University of...
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Minneapolis, Minnesota 55455
(612) 625-5000
Principal Investigator: Chester B. Whitley, Ph.D., M.D.
Phone: 612-624-7975
Univ of Minnesota With a flagship campus in the heart of the Twin Cities, and...
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