The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

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

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.

Study Overview

• Status: Completed
• Conditions: Metachromatic Leukodystrophy

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.

• Study Type: Observational
• Enrollment (Actual): 21

Contacts and Locations

Study Locations

• United States
  • Connecticut
    • Danbury, Connecticut, United States, 06810
      • National Organization for Rare Disorders

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: National Organization for Rare Disorders
• Collaborators: Food and Drug Administration (FDA)
• Investigators: Principal Investigator: Stephanie Christopher, MS, National Organization for Rare Disorders

Publications and helpful links

Helpful Links

• HOME Study overview and enrollment

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2020
• Primary Completion (Actual): January 31, 2024
• Study Completion (Actual): March 30, 2025

Study Registration Dates

• First Submitted: November 8, 2020
• First Submitted That Met QC Criteria: November 12, 2020
• First Posted (Actual): November 13, 2020

Study Record Updates

• Last Update Posted (Actual): June 8, 2025
• Last Update Submitted That Met QC Criteria: June 4, 2025
• Last Verified: June 1, 2025

More Information

Terms related to this study

• Keywords: Leukodystrophy; Natural History Study; MLD; Rare Disease
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Demyelinating Diseases; Lipid Metabolism Disorders; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Sphingolipidoses; Lipidoses; Sulfatidosis; Leukodystrophy, Metachromatic
• Other Study ID Numbers: 75F40119C10091

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No