Metachromatic LeukodystrophyNCT04628364
The Natural History of Metachromatic Leukodystrophy Study (HOME Study)
An observational study of Metachromatic Leukodystrophy, run by National Organization for Rare Disorders at 1 site in United States.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Metachromatic Leukodystrophy
- How many people
- 21 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Oct 2020to 30 Mar 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Patients will be excluded from the study if they do not meet inclusion criteria.
- Non-English speaking individuals
- No confirmed diagnosis of metachromatic leukodystrophy.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Organization for Rare Disorders
Danbury, Connecticut, 06810
About this study
Official title: 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.
Read the 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
- Keywords
- MLD, Leukodystrophy, Rare Disease, Natural History Study
- Medical subject headings
- Leukodystrophy, Metachromatic, Rare Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: Baseline, 3, 6, 9, 12 months
Secondary outcomes (2)
Change in Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD)
Describes expressive language.
Measured: Baseline, 3, 6, 9, 12 months
Change in WHO Motor Milestone
Assessment of six milestones that are fundamental to acquiring self-sufficient, erect locomotion.
Measured: Baseline, 3, 6, 9, 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Nov 2020
- Study start1 Oct 2020
- Primary completion31 Jan 2024
- Study completion30 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Metachromatic LeukodystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Organization for Rare Disorders
- Sponsor type
- University, hospital or other
- Collaborators
- Food and Drug Administration (FDA)
- Responsible party
- Principal investigator, Aliza Fink, National Organization for Rare Disorders
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04628364
- Sponsor's protocol ID
- 75F40119C10091
- Status last verified
- Jun 2025
- First submitted
- 8 Nov 2020
- Last updated
- 8 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Systems-based Approach to Patient-focused Rare Disease Research and Product Development
- ClinicalTrials.gov ID
- NCT04628364
- Acronym / sponsor ID
- 75F40119C10091
- Conditions
- Metachromatic Leukodystrophy
- Keywords
- MLD, Leukodystrophy, Rare Disease, Natural History Study
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 21 participants (actual)
- Lead sponsor
- National Organization for Rare DisordersUniversity, hospital or other
- Collaborators
- Food and Drug Administration (FDA)
- Study start
- 1 Oct 2020 (actual)
- Primary completion
- 31 Jan 2024 (actual)
- Study completion
- 30 Mar 2025 (actual)
- First posted
- 13 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- Patients will be excluded from the study if they do not meet inclusion criteria.
- Non-English speaking individuals
- No confirmed diagnosis of metachromatic leukodystrophy.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in Gross Motor Function Classification System - Metachromatic Leukodystrophy (GMFC-MLD)
Time frame: Baseline, 3, 6, 9, 12 months
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).
2 secondary outcomes
Change in Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD)
Time frame: Baseline, 3, 6, 9, 12 months
Change in WHO Motor Milestone
Time frame: Baseline, 3, 6, 9, 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jun 2025.
- HOME Study overview and enrollmentLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Metachromatic Leukodystrophy, run by National Organization for Rare Disorders at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Gross Motor Function Classification System - Metachromatic Leukodystrophy (GMFC-MLD) (time frame: Baseline, 3, 6, 9, 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jun 2025.