Trial record 5 of 25 for:    Krabbe Disease

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by University of Chicago
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
University of Minnesota - Clinical and Translational Science Institute
State University of New York at Buffalo, Hunter James Kelley Research Institute
Information provided by (Responsible Party):
Michael Msall, University of Chicago
ClinicalTrials.gov Identifier:
NCT01938014
First received: August 6, 2013
Last updated: September 4, 2013
Last verified: September 2013
  Purpose

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.


Condition
Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis Type II (MPS II)
Mucopolysaccharidosis Type III (MPS III)
Mucopolysaccharidosis Type VI (MPS VI)
Krabbe Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Resource links provided by NLM:


Further study details as provided by University of Chicago:

Primary Outcome Measures:
  • Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years [ Time Frame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment ] [ Designated as safety issue: No ]
    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:
  • Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years [ Time Frame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment ] [ Designated as safety issue: No ]
    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 Developmental Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years [ Time Frame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment ] [ Designated as safety issue: No ]
    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 Behavioral Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years [ Time Frame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment ] [ Designated as safety issue: No ]
    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 [ Time Frame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment ] [ Designated as safety issue: No ]
    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 [ Time Frame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment ] [ Designated as safety issue: No ]
    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 the Well-Being of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years [ Time Frame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   None Retained

None collected; this is data-collection only, via a telephone-interview of children's care-givers.


Estimated Enrollment: 50
Study Start Date: January 2009
Estimated Study Completion Date: August 2014
Estimated Primary Completion Date: July 2014 (Final data collection date for primary outcome measure)
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.

  Eligibility

Ages Eligible for Study:   up to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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
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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01938014

Contacts
Contact: Michael Msall, M.D. 773-834-1025 mmsall@peds.bsd.uchicago.edu
Contact: Diana Ryan 773-702-3095 dhryan@peds.bsd.uchicago.edu

Locations
United States, Illinois
University of Chicago Recruiting
Chicago, Illinois, United States, 60637
Contact: Michael Msall, M.D.    773-834-1025    mmsall@peds.bsd.uchicago.edu   
Contact: Diana Ryan    773-702-3095    dhryan@peds.bsd.uchicago.edu   
Principal Investigator: Michael Msall, M.D.         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Chester B. Whitley, Ph.D., M.D.    612-624-7975    gtadmin@umn.edu   
Contact: Jeanine R. Utz, PharmD    612-624-7975    utzx0002@umn.edu   
Principal Investigator: Chester B. Whitley, Ph.D., M.D.         
United States, New York
Hunter James Kelly Institute Recruiting
Buffalo, New York, United States, 14203
Contact: Patricia K. Duffner, M.D.    716-881-8908    duffner@buffalo.edu   
Principal Investigator: Patricia K. Duffner, M.D.         
Sponsors and Collaborators
University of Chicago
Rare Diseases Clinical Research Network
University of Minnesota - Clinical and Translational Science Institute
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 - Clinical and Translational Science Institute
Principal Investigator: Nancy Lyon, CPNP Hunter James Kelly Institute in Buffalo, New York
  More Information

Additional Information:
No publications provided

Responsible Party: Michael Msall, Professor, University of Chicago
ClinicalTrials.gov Identifier: NCT01938014     History of Changes
Other Study ID Numbers: RDCRN-LDN-6710, U54NS065768
Study First Received: August 6, 2013
Last Updated: September 4, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by University of Chicago:
Krabbe disease
globoid cell leukodystrophy
galactosylceramide lipidosis
Rare Diseases Clinical Research Network
Lysosomal Disease Network
MPS I
MPS II
MPS III
MPS VI
mucopolysaccharidoses
mucopolysaccharidosis
enzyme replacement therapy
hematopoietic stem cell transplant
telephone-based surveillance
Hurler syndrome
Hunter syndrome
Scheie syndrome
Hurler-Scheie syndrome
Sanfilippo syndrome
Maroteaux-Lamy syndrome

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Leukodystrophy, Globoid Cell
Genetic Diseases, Inborn
Connective Tissue Diseases
Metabolic Diseases
Hereditary Central Nervous System Demyelinating Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lysosomal Storage Diseases, Nervous System
Demyelinating Diseases
Lipid Metabolism Disorders
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis III
Mucopolysaccharidosis II
Mucopolysaccharidosis VI
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Mucinoses
Sphingolipidoses
Leukoencephalopathies
Lipidoses
Lipid Metabolism, Inborn Errors
Mental Retardation, X-Linked
Intellectual Disability

ClinicalTrials.gov processed this record on September 22, 2014