Natural History Study of Children With Metachromatic Leukodystrophy

March 16, 2021 updated by: Shire
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).

Study Overview

Status

Terminated

Conditions

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

Enrollment (Actual)

1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Argentina
      • Pilar, Argentina, B1629ODT
        • Hospital Universitario Austral
  • Belgium
      • Edegem, Belgium, 2650
        • Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)
  • Brazil
      • Porto Alegre, Brazil, 90035-003
        • Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS
  • Canada
      • Westmount, Canada, H3Z 2Z3
        • Montreal Children's Hospital
  • Denmark
      • Copenhagen, Denmark, 2100
        • Copenhagen University Hospital, Rigshospitalet
  • France
      • Le Kremlin Bicêtre, France, 94275
        • Hopital de Bicetre
  • Germany
      • Tubingen, Germany, 72076
        • Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin
  • Japan
      • Osaka, Japan, 565-0871
        • Faculty Of Medicine, Osaka University Graduate School Of Medicine
      • Tokyo, Japan, 105-8461
        • The Jikei University School Of Medicine - Institute Of Dna Medicine
  • Turkey
      • Ankara, Turkey, 6100
        • Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi
  • United States
    • California
      • Torrance, California, United States, 90502
        • Harbor UCLA Pediatrics
    • District of Columbia
      • Washington, District of Columbia, United States, 20010
        • Children's National Health System
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Ann & Robert H. Lurie Children's Hospital of Chicago
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15224
        • Children's Hospital of Pittsburgh

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 12 years (CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
No treatment

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
Week 0 to Week 104

Secondary Outcome Measures

Outcome Measure
Time Frame
The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing.
Time Frame: Week 0 to Week 104
Week 0 to Week 104
The change from baseline in nerve conduction as measured by the electroneurography.
Time Frame: Week 0 to Week 104
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
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
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
Week 0 to Week 104
Reporting of any study procedure-related nonserious AEs and/or any SAEs
Time Frame: Week 0 to Week 114
Week 0 to Week 114

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Shire

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

November 2, 2015

Primary Completion (ACTUAL)

April 8, 2016

Study Completion (ACTUAL)

April 8, 2016

Study Registration Dates

First Submitted

October 11, 2013

First Submitted That Met QC Criteria

October 11, 2013

First Posted (ESTIMATE)

October 16, 2013

Study Record Updates

Last Update Posted (ACTUAL)

March 17, 2021

Last Update Submitted That Met QC Criteria

March 16, 2021

Last Verified

March 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HGT-MLD-092

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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