Clinical trial NCT01938014: 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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis Type II (MPS II)
Mucopolysaccharidosis Type III (MPS III)
Mucopolysaccharidosis Type VI (MPS VI)
Krabbe Disease
Keywords: MPS I
MPS II
MPS III
MPS VI
Krabbe disease
globoid cell leukodystrophy
galactosylceramide lipidosis
mucopolysaccharidoses
mucopolysaccharidosis
Rare Diseases Clinical Research Network
Lysosomal Disease Network
enzyme replacement therapy
hematopoietic stem cell transplant
telephone-based surveillance
Hurler syndrome
Hunter syndrome
Scheie syndrome
Hurler-Scheie syndrome
Sanfilippo syndrome
Maroteaux-Lamy syndrome
Lead sponsor: University of Chicago
Sponsor class: OTHER
Collaborators: name: Rare Diseases Clinical Research Network
name: National Center for Advancing Translational Sciences (NCATS)
name: National Institute of Neurological Disorders and Stroke (NINDS)
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
name: University of Minnesota
name: State University of New York at Buffalo
First posted: 2013-09-10
Enrollment: 19
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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

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.

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.

Primary outcomes:
measure: Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
timeFrame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Secondary outcomes:
measure: Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
timeFrame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
measure: Change in Developmental Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
timeFrame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
measure: Change in Behavioral Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
timeFrame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
measure: Change in Functional Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
timeFrame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
measure: Change in the Functional Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
timeFrame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
measure: Change in the Well-Being of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
timeFrame: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Other outcomes:
Locations:
city: Chicago
country: United States
facility: University of Chicago
state: Illinois
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
city: Buffalo
country: United States
facility: Hunter James Kelly Institute
state: New York
Study officials:
affiliation: University of Chicago
name: Michael Msall, M.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Hunter James Kelly Institute in Buffalo, New York
name: Patricia K. Duffner, M.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Minnesota
name: Chester B. Whitley, Ph.D., M.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Hunter James Kelly Institute in Buffalo, New York
name: Nancy Lyon, CPNP
role: PRINCIPAL_INVESTIGATOR
References: