The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

Study Overview
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Brief Summary
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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.

Detailed Description
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The HOME Study is a web-based natural history study for patients with metachromatic leukodystrophy. It is hosted by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them. The study collects information from participants (or their authorized respondents, heretofore referred to collectively as participants) who are affected by metachromatic leukodystrophy. Data are collected at pre-baseline, baseline, 3, 6, 9, and 12 months through online surveys, telephone Interviews, web-based virtual assessments with a clinical study coordinator, and a (optional - only for U.S. residents) mobile application. Data entered into this study includes name, date of birth, diagnosis, treatments, medical history, family history, quality of life, disease progression, treatment - past and proposed, general medical information, genetic test results and mutations, blood level results, upload of medical records.

Official Title
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A Systems-based Approach to Patient-focused Rare Disease Research and Product Development

Conditions
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Metachromatic Leukodystrophy

Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD) | Describes expressive language. | Baseline, 3, 6, 9, 12 months | 
| Change in WHO Motor Milestone | Assessment of six milestones that are fundamental to acquiring self-sufficient, erect locomotion. | Baseline, 3, 6, 9, 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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MLD, Leukodystrophy, Rare Disease, Natural History Study