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Natural History Study of Children With Metachromatic Leukodystrophy

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ClinicalTrials.gov Identifier: NCT01963650
Recruitment Status : Terminated (Enrollment issues)
First Posted : October 16, 2013
Last Update Posted : April 20, 2016
Sponsor:
Information provided by (Responsible Party):
Shire

Tracking Information
First Submitted Date October 11, 2013
First Posted Date October 16, 2013
Last Update Posted Date April 20, 2016
Study Start Date December 2013
Actual Primary Completion Date March 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: October 11, 2013)
The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score. [ Time Frame: Week 0 to Week 104 ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT01963650 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: September 26, 2014)
  • The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in nerve conduction as measured by the electroneurography. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in cognitive function using the Mullen Scales of Early Learning. [ Time Frame: Week 0 to Week 104 ]
  • Reporting of any study procedure-related nonserious AEs and/or any SAEs [ Time Frame: Week 0 to Week 114 ]
Original Secondary Outcome Measures
 (submitted: October 11, 2013)
  • The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in nerve conduction as measured by the electroneurography. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in cognitive function using the Mullen Scales of Early Learning. [ Time Frame: Week 0 to Week 104 ]
  • Reporting of any study procedure-related nonserious AEs and/or any SAEs [ Time Frame: Week 0 to Week 114 ]
  • Change from baseline in CSF, serum, and urine biomarkers. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in the total MLD severity score as based on magnetic resonance imaging. [ Time Frame: Week 0 to Week 104 ]
  • Percent change from baseline in the deep white matter of the brain as obtained by magnetic resonance spectroscopy. [ Time Frame: Week 0 to Week 104 ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History Study of Children With Metachromatic Leukodystrophy
Official Title Natural History Study of Children With Metachromatic Leukodystrophy
Brief Summary The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
Detailed Description

Metachromatic leukodystrophy (MLD) is an inherited, autosomal recessive disorder of lipid metabolism characterized by deficient activity of the lysosomal enzyme, arylsulfatase A (ASA). MLD is a rare genetic disease that occurs in most parts of the world. The estimated overall incidence of the disease in the western world is approximately 1 in 100,000 live births.

This study is a multicenter, observational, longitudinal study that plans to enroll up to 30 patients with onset of MLD-related signs and symptoms prior to 30 months of age and who are less than 12 years of age. Patients will participate in this study for approximately 114 weeks (Screening through Follow-up) and will be assessed at defined intervals for disease status.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Sample for genotype testing is collected and any remaining sample is retained for follow up or repeat testing. The sample is not retained for unspecified additional testing.
Sampling Method Non-Probability Sample
Study Population This study will enroll up to 30 male or female children (<12 years of age) with a confirmed MLD diagnosis.
Condition
  • Lipid Metabolism Disorders
  • Metachromatic Leukodystrophy (MLD)
  • Nervous System Diseases
  • Brain Diseases
  • Central Nervous System Diseases
  • Demyelinating Diseases
  • Metabolism, Inborn Errors
  • Genetic Diseases, Inborn
  • Sphingolipidoses
  • Hereditary Central Nervous System Demyelinating Diseases
  • Metabolic Inborn Brain Diseases
  • Lysosomal Storage Diseases
  • Metabolic Diseases
  • Sulfatidosis
Intervention Not Provided
Study Groups/Cohorts No treatment
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 Terminated
Actual Enrollment
 (submitted: April 19, 2016)
1
Original Estimated Enrollment
 (submitted: October 11, 2013)
30
Actual Study Completion Date March 2016
Actual Primary Completion Date March 2016   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  1. Confirmed diagnosis of MLD by both:

    • arylsulfatase A (ASA) deficiency by assay in leukocytes AND
    • elevated sulfatide in urine
  2. Appearance of the first symptoms of disease at or before 30 months of age.
  3. A GMFM-88 total (percent) score greater than or equal to 40 at the screening examination.
  4. The patient is less than 12 years of age at the time of enrollment.
  5. The patient and his/her parent or legally authorized representative(s) must have the ability to comply with the clinical protocol.
  6. Patient's parent or legally authorized representative(s) must provide written informed consent prior to performing any study-related activities. Study-related activities are any procedures that would not have been performed during normal management of the patient.

Exclusion Criteria:

  1. History of hematopoietic stem cell transplantation.
  2. The patient has any known or suspected hypersensitivity to agents used for anesthesia or is thought to be at an unacceptably high risk for associated potential complications of airway compromise or other conditions.
  3. Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the study.
  4. The patient is enrolled in another clinical study that involves the use of any investigational product (drug or device) within 30 days prior to study enrollment or at any time during the study.
Sex/Gender
Sexes Eligible for Study: All
Ages up to 12 Years   (Child)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Argentina,   Belgium,   Brazil,   Canada,   Denmark,   France,   Germany,   Japan,   Turkey,   United States
Removed Location Countries Colombia,   Israel
 
Administrative Information
NCT Number NCT01963650
Other Study ID Numbers HGT-MLD-092
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Shire
Study Sponsor Shire
Collaborators Not Provided
Investigators
Study Director: Margaret Wasilewski, MD Shire
PRS Account Shire
Verification Date April 2016