Metachromatic Leukodystrophy Clinical Trial
Official title:
A Systems-based Approach to Patient-focused Rare Disease Research and Product Development
Verified date | June 2023 |
Source | National Organization for Rare Disorders |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Active, not recruiting |
Enrollment | 50 |
Est. completion date | June 30, 2024 |
Est. primary completion date | December 31, 2023 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | 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. |
Country | Name | City | State |
---|---|---|---|
United States | National Organization for Rare Disorders | Danbury | Connecticut |
Lead Sponsor | Collaborator |
---|---|
National Organization for Rare Disorders | Food and Drug Administration (FDA) |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Change in Gross Motor Function Classification System - Metachromatic Leukodystrophy (GMFC-MLD) | The GMFC-MLD consists of seven levels and is applicable from the age of 18 months. It represents all clinically relevant stages from normal (level 0) to loss of all gross motor function (level 6). | Baseline, 3, 6, 9, 12 months | |
Secondary | Change in Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD) | Describes expressive language. | Baseline, 3, 6, 9, 12 months | |
Secondary | Change in WHO Motor Milestone | Assessment of six milestones that are fundamental to acquiring self-sufficient, erect locomotion. | Baseline, 3, 6, 9, 12 months |
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