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

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.

Study Overview

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

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 Type: Observational
• Enrollment (Actual): 19

Contacts and Locations

Study Locations

• United States
  • Illinois
    • Chicago, Illinois, United States, 60637
      • University of Chicago
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • University of Minnesota
  • New York
    • Buffalo, New York, United States, 14203
      • Hunter James Kelly Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 18 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

1. Children aged 1 to 84 months who have been diagnosed with MPS types I, II, III or VI
2. Children aged 1 to 84 months who have been diagnosed with some other lysosomal disease
3. Children aged birth to 18 years who have been diagnosed with Krabbe disease, or who have a positive screening for Krabbe disease

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	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	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
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
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
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
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
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

Collaborators and Investigators

• Sponsor: University of Chicago
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institute of Neurological Disorders and Stroke (NINDS); University of Minnesota; Rare Diseases Clinical Research Network; National Center for Advancing Translational Sciences (NCATS); State University of New York at Buffalo, Hunter James Kelley Research Institute
• Investigators: Principal Investigator: Michael Msall, M.D., University of Chicago; Principal Investigator: Patricia K. Duffner, M.D., Hunter James Kelly Institute in Buffalo, New York; Principal Investigator: Chester B. Whitley, Ph.D., M.D., University of Minnesota; Principal Investigator: Nancy Lyon, CPNP, Hunter James Kelly Institute in Buffalo, New York

Publications and helpful links

Helpful Links

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

Study record dates

Study Major Dates

• Study Start: January 1, 2009
• Primary Completion (ACTUAL): July 23, 2016
• Study Completion (ACTUAL): July 23, 2016

Study Registration Dates

• First Submitted: August 6, 2013
• First Submitted That Met QC Criteria: September 4, 2013
• First Posted (ESTIMATE): September 10, 2013

Study Record Updates

• Last Update Posted (ACTUAL): October 4, 2019
• Last Update Submitted That Met QC Criteria: October 2, 2019
• Last Verified: October 1, 2019

More Information

Terms related to this study

• Keywords: enzyme replacement therapy; MPS I; MPS II; MPS VI; Krabbe disease; Hunter syndrome; hematopoietic stem cell transplant; mucopolysaccharidosis; globoid cell leukodystrophy; galactosylceramide lipidosis; Hurler-Scheie syndrome; Hurler syndrome; MPS III; Sanfilippo syndrome; mucopolysaccharidoses; Rare Diseases Clinical Research Network; Lysosomal Disease Network; telephone-based surveillance; Scheie syndrome; Maroteaux-Lamy syndrome
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Demyelinating Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Mucinoses; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Leukoencephalopathies; Hereditary Central Nervous System Demyelinating Diseases; Mucopolysaccharidosis II; Mucopolysaccharidoses; Mucopolysaccharidosis I; Lysosomal Storage Diseases; Mucopolysaccharidosis III; Leukodystrophy, Globoid Cell; Mucopolysaccharidosis VI
• Other Study ID Numbers: RDCRN-LDN-6710; U54NS065768 (U.S. NIH Grant/Contract)