DNA hunt for rare brain disease genes begins
NCT ID NCT06647641
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study collects DNA from up to 1,000 adults with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), multiple system atrophy (MSA), or related conditions, plus their family members. Researchers will sequence participants' whole genomes to find genetic variants linked to these diseases. The goal is to better understand the genetic roots of these rare neurological disorders.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could identify new genetic markers linked to these rare brain diseases, paving the way for future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly benefit participants, and findings may take years to translate into therapies.
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
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About 1,000 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Oct 2024
- Expected to finish
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Dec 2030
An estimate. End dates often move.
- Lead sponsor
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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
Adults with PSP, CBD/CBS or MSA
- Ages
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35 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide 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: 1. Adults (aged 35 or older) with a clinical diagnosis of PSP, CBS, MSA, or a related neurological disease as confirmed by their healthcare provider, or unaffected family members of participants who have reported a family history of relevant neurodegenerative conditions. 2. Meet Movement Disorder Society (MDS) Clinical Diagnostic Criteria for Possible or Probable PSP (32), clinically established or clinically probable MSA (33), Armstrong criteria (2013) for possible or probable CBS (34). Diagnostic certainty will be determined by the treating/referring clinician. 3. Willingness to undergo genetic testing. Participants will have the option to receive relevant genetic test results. 4. Have the capacity to give full informed consent in writing or electronically, or provide consent through a legally authorized representative (LAR)/power of attorney (POA), and have read, understood, and completed the informed consent form. 5. Are able to perform or have a designee who can perform study activities (including completion of either online or orally administered surveys). Exclusion Criteria: 1. Individuals who have received a blood transfusion within the past 3 months. 2. Individuals who have active hematologic malignancies such as lymphoma or leukemia. 3. Individuals who have had a bone marrow transplant within the past 5 years. 4. Individuals under the age of 35 or age of majority in applicable states at the time of consenting.
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Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The study's own enquiry address
This study publishes an address for enquiries. See it below .
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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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
Show contact details
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Genom att skicka in godkänner du våra Användarvillkor
Study contacts
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Contact
Email: •••••@•••••
Locations
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Massachusetts General Hospital
RECRUITINGBoston, Massachusetts, 02114, United States
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