Natural History Study of Children With Metachromatic Leukodystrophy

Stopped early

Conditions studied: 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

In brief

The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).

Key facts

Study ID

NCT01963650

Run by

Shire

People needed

1

Starts

2015-11-02

Expected to finish

2016-04-08

Last updated by the study team

2021-03-17

Who can join

Age: any, up to 12. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Confirmed diagnosis of MLD by both:
• arylsulfatase A (ASA) deficiency by assay in leukocytes AND
• elevated sulfatide in urine
• Appearance of the first symptoms of disease at or before 30 months of age.
• A GMFM-88 total (percent) score greater than or equal to 40 at the screening examination.
• The patient is less than 12 years of age at the time of enrollment.
• The patient and his/her parent or legally authorized representative(s) must have the ability to comply with the clinical protocol.
• 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.

You may not qualify if…

• History of hematopoietic stem cell transplantation.
• 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.
• Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, would preclude participation in the study.
• 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.

Where it is running

• 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
• Univesitatsklinikum Tubingen Klinik fur Kinder und Jugendmedizin — Tübingen, Germany
• Faculty Of Medicine, Osaka University Graduate School Of Medicine — Osaka, Japan
• The Jikei University School Of Medicine - Institute Of Dna Medicine — Tokyo, Japan
• Hacettepe Universitesi Tip Fakultesi Onkoloji Hastanesi — Ankara, Turkey (Türkiye)

Full record on ClinicalTrials.gov

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