The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

Metachromatic Leukodystrophy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04628364
• Other study ID #: 75F40119C10091
• Status: Active, not recruiting
• Start date: October 1, 2020
• Est. completion date: June 30, 2024

Study information

• Verified date: June 2023
• Source: National Organization for Rare Disorders
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• 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.

Related Conditions & MeSH terms

• Leukodystrophy, Metachromatic
• Metachromatic Leukodystrophy

Locations

Country	Name	City	State
United States	National Organization for Rare Disorders	Danbury	Connecticut

Sponsors (2)

Lead Sponsor	Collaborator
National Organization for Rare Disorders	Food and Drug Administration (FDA)

Country where clinical trial is conducted

United States, 

Outcome

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

External Links

•   HOME Study overview and enrollment