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Cure My Disease

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Major study tracks rare brain diseases to unlock their secrets

NCT ID NCT03333200

Knowledge-focused Sponsor: University of Pittsburgh Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how treatments might help.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,500 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2012

Expected to finish

Jan 2035

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Persons with genetic neurodegenerative diseases.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Any patient with a genetic neurodegenerative disorder Exclusion Criteria: * none

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Conditions

The condition(s) this trial relates to.

adrenoleukodystrophy alpha-mannosidosis Gaucher disease giant axonal neuropathy 1 GM1 gangliosidosis Hypermethioninemia Krabbe disease Language leukodystrophy Leukoencephalopathies leukoencephalopathy with vanishing white matter lysosomal storage disease metachromatic leukodystrophy mucopolysaccharidosis I, dog mucopolysaccharidosis II, dog Mucopolysaccharidosis III Mucopolysaccharidosis IV mucopolysaccharidosis type 4 mucosulfatidosis neuronal ceroid lipofuscinosis 3 Neuronal Ceroid-Lipofuscinoses Niemann-Pick disease osteopetrosis pantothenate kinase-associated neurodegeneration Pelizaeus-Merzbacher spectrum disorder purine nucleoside phosphorylase deficiency Sandhoff disease Sudden Infant Death Tay-Sachs disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ALD Alpha-mannosidosis Batten disease GAN Gaucher disease GM1 gangliosidoses GM3 gangliosidosis Krabbe disease Leukodystrophy Lysosomal storage diseases MLD Morquio disease MPS I MPS ii MPS iii MPS iv Multiple sulfatase deficiency disease Niemann-Pick diseases NP deficiency Osteopetrosis Pelizaeus-Merzbacher disease PKAN Purine nucleoside phosphorylase deficiency S-adenosylhomocysteine hydrolase deficiency Sandhoff disease Tay-Sachs disease Vanishing white matter disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • UPMC Children's Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.