CompletedNot Applicable

The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

United States21 participantsStarted 2020-10-01

Plain-language summary

The primary aims of the HOME Study are to: * Design and implement a natural history study for metachromatic leukodystrophy to serve as a source of external control data, to augment or replace concurrent controls in clinical trials; * Pilot test and develop guidance on how to design, conduct, and analyze the data from a natural history study to support adaptive trial designs for regulatory use; * Reduce burden of participation in trials and provide a potential solution to patient recruitment challenges, particularly for RCT's; and * Design approaches that support remote participation in studies.

Who can participate

SexALL

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Inclusion Criteria: The study is open to English speaking individuals of all ages who have a diagnosis consistent with metachromatic leukodystrophy (MLD). MLD is defined as: * Mutations in the ASA and PSAP genes identified by genetic testing; * A diagnosis of MLD by MRI of the brain; or * Sulfatase enzyme activity and urinary sulfatide excretion identified by biochemical testing. Exclusion Criteria: Patients will be excluded from the study if they do not meet inclusion criteria. * Non-English speaking individuals * No confirmed diagnosis of metachromatic leukodystrophy.

What they're measuring

Change in Gross Motor Function Classification System - Metachromatic Leukodystrophy (GMFC-MLD)

Timeframe: Baseline, 3, 6, 9, 12 months

Trial details

NCT IDNCT04628364

SponsorNational Organization for Rare Disorders

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-01-31

View on ClinicalTrials.gov More Metachromatic Leukodystrophy trials