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Natural History Study of Children With Metachromatic Leukodystrophy | Clinical Trials | Clareo Health

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Natural History Study of Children With Metachromatic Leukodystrophy

NCT01963650•Shire

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.

Eligibility

Age

0 - 12 years

Sex

ALL

Healthy Volunteers

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.

Locations (14)

Harbor UCLA Pediatrics

Torrance, California, United States

Children's National Health System

Washington D.C., District of Columbia, United States

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Children's Hospital Of Pittsburgh

Pittsburgh, Pennsylvania, United States

Hospital Universitario Austral

Pilar, Argentina

Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)

Edegem, Belgium

Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS

Porto Alegre, Brazil

Montreal Children's Hospital

Westmount, Canada

Copenhagen University Hospital, Rigshospitalet

Copenhagen, Denmark

Hôpital De Bicêtre

Le Kremlin-Bicêtre, France

Key Dates

Start Date

November 2, 2015

Primary Completion Date

April 8, 2016

Completion Date

April 8, 2016

Last Updated

March 17, 2021

Enrollment

ACTUAL participants

Conditions

Lipid Metabolism DisordersMetachromatic Leukodystrophy (MLD)Nervous System DiseasesBrain DiseasesCentral Nervous System DiseasesDemyelinating DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornSphingolipidosesHereditary Central Nervous System Demyelinating DiseasesMetabolic Inborn Brain DiseasesLysosomal Storage DiseasesMetabolic DiseasesSulfatidosis

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: March 17, 2021Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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Natural History Study of Children With Metachromatic Leukodystrophy

Inclusion Criteria

Exclusion Criteria

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