NCT01938014

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
19

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jan 2009

Longer than P75 for all trials

Geographic Reach
1 country

3 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2009

Completed
4.6 years until next milestone

First Submitted

Initial submission to the registry

August 6, 2013

Completed
1 month until next milestone

First Posted

Study publicly available on registry

September 10, 2013

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 23, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 23, 2016

Completed
Last Updated

October 4, 2019

Status Verified

October 1, 2019

Enrollment Period

7.6 years

First QC Date

August 6, 2013

Last Update Submit

October 2, 2019

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 IMPS IIMPS IIIMPS VIKrabbe diseasegloboid cell leukodystrophygalactosylceramide lipidosismucopolysaccharidosesmucopolysaccharidosisRare Diseases Clinical Research NetworkLysosomal Disease Networkenzyme replacement therapyhematopoietic stem cell transplanttelephone-based surveillanceHurler syndromeHunter syndromeScheie syndromeHurler-Scheie syndromeSanfilippo syndromeMaroteaux-Lamy syndrome

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (6)

  • Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years

    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

    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

    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

    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

    Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment

  • +1 more secondary outcomes

Eligibility Criteria

Age1 Day - 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-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

You may qualify if:

  • 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.

You may not qualify if:

  • Children who do not have a lysosomal disease are excluded from this study.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

University of Chicago

Chicago, Illinois, 60637, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Hunter James Kelly Institute

Buffalo, New York, 14203, United States

Location

Related Links

Biospecimen

Retention: NONE RETAINED

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

MeSH Terms

Conditions

Mucopolysaccharidosis IMucopolysaccharidosis IISudden Infant DeathMucopolysaccharidosis IIIMucopolysaccharidosis VILeukodystrophy, Globoid CellMucopolysaccharidoses

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLysosomal Storage DiseasesMucinosesConnective Tissue DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesX-Linked Intellectual DisabilityIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesGenetic Diseases, X-LinkedHeredodegenerative Disorders, Nervous SystemDeath, SuddenDeathPathologic ProcessesPathological Conditions, Signs and SymptomsInfant DeathHereditary Central Nervous System Demyelinating DiseasesBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesSphingolipidosesLysosomal Storage Diseases, Nervous SystemLeukoencephalopathiesDemyelinating DiseasesLipidosesLipid Metabolism, Inborn ErrorsLipid Metabolism Disorders

Study Officials

  • 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

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 6, 2013

First Posted

September 10, 2013

Study Start

January 1, 2009

Primary Completion

July 23, 2016

Study Completion

July 23, 2016

Last Updated

October 4, 2019

Record last verified: 2019-10

Locations

US(3)