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

Completed

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

• Registration Number: NCT01938014
• Lead Sponsor: 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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2009-01
• Study First Submitted: 2013-08-06
• Study First Submitted QC: 2013-09-04
• Study First Posted: 2013-09-10
• Primary Completion: 2016-07-23
• Study Completion: 2016-07-23
• Status Verified: 2019-10
• Last Update Submitted: 2019-10-02
• Last Update Posted: 2019-10-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 19

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.

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Exclusion Criteria

Children who do not have a lysosomal disease are excluded from this study.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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	Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's health status.

Secondary Outcome Measures

Name	Time	Method
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	Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the behavioral outcomes of the immediate family of the lysosomal disease-affected child.
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	Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's behavioral outcomes.
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	Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's functional outcomes.
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	Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the functional outcomes of the immediate family of the lysosomal disease-affected child.
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	Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's developmental status.
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	Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the state of well-being of the immediate family of the lysosomal disease-affected child.

Trial Locations

Locations (3)

University of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States

University of Chicago; 🇺🇸 Chicago, Illinois, United States

Hunter James Kelly Institute; 🇺🇸 Buffalo, New York, United States