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

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

Sponsors

Lead Sponsor: University of Chicago

Collaborator: Rare Diseases Clinical Research Network
National Center for Advancing Translational Science (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
University of Minnesota
State University of New York at Buffalo, Hunter James Kelley Research Institute

Source University of Chicago
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.

Overall Status Completed
Start Date January 2009
Completion Date July 23, 2016
Primary Completion Date July 23, 2016
Study Type Observational
Primary Outcome
Measure Time Frame
Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary Outcome
Measure Time Frame
Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Change in Developmental Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Change in Behavioral Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Change in Functional Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Change in the Functional Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Change in the Well-Being of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Enrollment 19
Condition
Eligibility

Sampling Method: Non-Probability Sample

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: All

Minimum Age: N/A

Maximum Age: 18 Years

Healthy Volunteers: No

Overall Official
Location
Facility:
University of Chicago | Chicago, Illinois, 60637, United States
University of Minnesota | Minneapolis, Minnesota, 55455, United States
Hunter James Kelly Institute | Buffalo, New York, 14203, United States
Location Countries

United States

Verification Date

October 2019

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

Source: ClinicalTrials.gov