The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

NCT ID: NCT04628364

Last Updated: 2025-06-08

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 21 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2020-10-01
• Study Completion Date: 2025-03-30

Brief 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.

Detailed Description

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.

Conditions

Metachromatic Leukodystrophy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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.

• Non-English speaking individuals
• No confirmed diagnosis of metachromatic leukodystrophy.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Food and Drug Administration (FDA)

FED

Sponsor Role: collaborator

National Organization for Rare Disorders

OTHER

Sponsor Role: lead

Responsible Party

Aliza Fink

Director of Research Programs

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

National Organization for Rare Disorders

Danbury, Connecticut, United States

Countries

United States

Related Links

https://rarediseases.org/mld-home-study/

HOME Study overview and enrollment

Other Identifiers

75F40119C10091

Identifier Type: -

Identifier Source: org_study_id