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

Krabbe Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01938014
• Other study ID #: RDCRN-LDN-6710
• Secondary ID: U54NS065768
• Status: Completed
• Start date: January 2009
• Est. completion date: July 23, 2016

Study information

• Verified date: October 2019
• Source: University of Chicago
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 19
• Est. completion date: July 23, 2016
• Est. primary completion date: July 23, 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Krabbe Disease
• Leukodystrophy, Globoid Cell
• Lysosomal Storage Diseases
• Mucopolysaccharidoses
• Mucopolysaccharidosis I
• Mucopolysaccharidosis II
• Mucopolysaccharidosis III
• Mucopolysaccharidosis Type I (MPS I)
• Mucopolysaccharidosis Type II (MPS II)
• Mucopolysaccharidosis Type III (MPS III)
• Mucopolysaccharidosis Type VI (MPS VI)
• Mucopolysaccharidosis VI

Locations

Country	Name	City	State
United States	Hunter James Kelly Institute	Buffalo	New York
United States	University of Chicago	Chicago	Illinois
United States	University of Minnesota	Minneapolis	Minnesota

Sponsors (7)

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

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years	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.	Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary	Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years	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.	Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary	Change in Developmental Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years	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.	Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary	Change in Behavioral Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years	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.	Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary	Change in Functional Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years	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.	Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary	Change in the Functional Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years	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.	Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary	Change in the Well-Being of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years	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.	Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment

External Links

•   Hunter James Kelly Research Institute
•   Lysosomal Disease Network
•   Rare Diseases Clinical Research Network