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

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ClinicalTrials.gov Identifier: NCT01938014
Recruitment Status : Unknown
Verified August 2015 by University of Chicago.
Recruitment status was:  Recruiting
First Posted : September 10, 2013
Last Update Posted : August 11, 2015
Sponsor:
Collaborators:
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 - Clinical and Translational Science Institute
State University of New York at Buffalo, Hunter James Kelley Research Institute
Information provided by (Responsible Party):
University of Chicago

Tracking Information
First Submitted Date August 6, 2013
First Posted Date September 10, 2013
Last Update Posted Date August 11, 2015
Study Start Date January 2009
Estimated Primary Completion Date August 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 4, 2013)
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 ]
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.
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT01938014 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: September 4, 2013)
  • 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 ]
    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 ]
    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 ]
    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 ]
    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 ]
    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 ]
    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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Official Title Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   None Retained
Description:
None collected; this is data-collection only, via a telephone-interview of children's care-givers.
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
Condition
  • Mucopolysaccharidosis Type I (MPS I)
  • Mucopolysaccharidosis Type II (MPS II)
  • Mucopolysaccharidosis Type III (MPS III)
  • Mucopolysaccharidosis Type VI (MPS VI)
  • Krabbe Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: August 10, 2015)
150
Original Estimated Enrollment
 (submitted: September 4, 2013)
50
Estimated Study Completion Date August 2017
Estimated Primary Completion Date August 2017   (Final data collection date for primary outcome measure)
Eligibility 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.

Sex/Gender
Sexes Eligible for Study: All
Ages up to 18 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01938014
Other Study ID Numbers RDCRN-LDN-6710
U54NS065768 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party University of Chicago
Study Sponsor University of Chicago
Collaborators
  • 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 - 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
PRS Account University of Chicago
Verification Date August 2015