The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

NCT04628364 | Completed

• 1 other identifier: 75F40119C10091
• Study Type: observational
• Target: 21
• Locations: 1 country
• Sites: 1

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.

Conditions

Metachromatic Leukodystrophy

Keywords

MLD; Leukodystrophy; Rare Disease; Natural History Study

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Change in Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD)

  Baseline, 3, 6, 9, 12 months

• Change in WHO Motor Milestone

  Baseline, 3, 6, 9, 12 months

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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. This diagnosis will be confirmed by participant upload of confirmatory test (genetic, blood, urine). Participants providing data must be at least 18 years of age, or legally authorized to provide information on behalf of a minor or someone who is unable to provide information themselves. Consent from a legally authorized representative is required for participants who are minors or who are over the age of 18 but unable to provide informed consent. Consent of one parent or legally authorized representative is considered sufficient for participation of a minor in this study and assent will not be collected.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• National Organization for Rare Disorders: lead
• Food and Drug Administration (FDA): collaborator

Study Sites (1)

National Organization for Rare Disorders

Danbury, Connecticut, 06810, United States

Location

Related Links

• HOME Study overview and enrollment

MeSH Terms

Conditions

Leukodystrophy, Metachromatic; Rare Diseases

Condition Hierarchy (Ancestors)

Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Sulfatidosis; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Leukoencephalopathies; Demyelinating Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director of Research Programs

Study Record Dates

• First Submitted: November 8, 2020
• First Posted: November 13, 2020
• Study Start: October 1, 2020
• Primary Completion: January 31, 2024
• Study Completion: March 30, 2025
• Last Updated: June 8, 2025

Record last verified: 2025-06

Locations

US (1)