ClinicalTrials.gov record NCT06647641

The CurePSP Genetics Program

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 7, 2026

The CurePSP Genetics Program

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age35 years old and older
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational genetics study collects blood DNA from adults with PSP, CBS/CBD, MSA, and related family members. Samples undergo non-CLIA whole genome sequencing at the NIH; variants thought possibly related to these conditions may be confirmed with CLIA testing. Up to 1,000 participants are planned. The registry states the study involves minimal risk and offers the option to receive relevant genetic results.

What it is studying. The study aims to collect and analyze DNA to identify genetic variants associated with PSP, CBS/CBD, MSA, and related neurological conditions. It will look for known and potentially novel variants and confirm possibly related pathogenic findings using CLIA-approved testing when appropriate.

What the researchers hope to learn. To generate genetic information that may help refine diagnostic criteria, inform genetic counseling, support future research studies, and provide insights that could guide future therapeutic research.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

This study is an observational, prospective genetic study. It aims to obtain DNA for research and testing from patients with PSP, CBS, MSA, and related neurological conditions and their families. Up to 1,000 adults who have been clinically diagnosed with PSP, CBS, MSA, or related neurological conditions will be enrolled. The study intervention involves sequencing of participant blood samples using non-CLIA-approved whole genome sequencing at the National Institutes of Health. Pathogenic variants that are deemed possibly related to these conditions will be confirmed using CLIA-approved testing. The study involves minimal risk to participants.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • Whole genome sequencing will be performed at the NIH

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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.
  • 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.
  • Willingness to undergo genetic testing. Participants will have the option to receive relevant genetic test results.
  • 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.
  • Are able to perform or have a designee who can perform study activities (including completion of either online or orally administered surveys).

Exclusion criteria

  • Individuals who have received a blood transfusion within the past 3 months.
  • Individuals who have active hematologic malignancies such as lymphoma or leukemia.
  • Individuals who have had a bone marrow transplant within the past 5 years.
  • Individuals under the age of 35 or age of majority in applicable states at the time of consenting.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Genetic research is important for basic, translational, and clinical researchers, and are particularly important for rare disease investigations. Understanding a patient's genetic background may also facilitate participant recruitment for targeted genetic therapeutic trials and has the potential to empower participants with PSP, CBS, MSA, or related neurological diseases and clinicians to make more informed decisions about their clinical care plan. Furthermore, genetic research augments the clinical counseling process by offering participants and their families a clearer understanding of disease risk in relatives. Overall, this study may help to refine current diagnostic criteria for PSP, CBS, MSA, and related neurological conditions, inform genetic counseling, fuel future research studies, and provide insights into potential therapeutic paradigms.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Provide a blood sample for research whole-genome sequencing (non-CLIA) performed at the NIH. Complete short health surveys either online or orally. If researchers identify genetic variants thought possibly related to the condition, those findings will be confirmed using CLIA-approved testing and participants may choose whether to receive those results. Consent may be given directly or through a legally authorized representative if needed.

How the study is structured. This is an observational, cross-sectional cohort study. Participants provide a blood sample for research whole genome sequencing performed at the NIH (non-CLIA). When a variant is considered possibly related to the participant's condition, that finding may be confirmed using CLIA-approved testing. Participants may be offered the option to receive relevant genetic results.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on multiple system atrophy

This trial is also listed on this site under progressive supranuclear palsy.

Clinical trials76 trials listed for multiple system atrophyEvery trial the registry lists for multiple system atrophy, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in multiple system atrophy researchLatest monthly update: September 2026. Includes: Tube feeding. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Oct 8, 2024
Primary completion
Dec 31, 2028 (estimated)
Study completion
Dec 31, 2030 (estimated)
Target enrollment
1000 participants (estimated)
Last updated on registry
Jan 14, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Massachusetts General Hospital
Principal investigator
Anne-Marie Alexandra Wills, MD, Director, CurePSP Center of Care
Massachusetts General Hospital
Collaborators
  • CurePSP Foundation
  • National Institutes of Health (NIH)

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
legally authorized representative
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
bone marrow transplant
A procedure that replaces blood-forming cells after high-dose treatment. 'Autologous' uses the person's own cells collected beforehand; 'allogeneic' uses cells from a donor.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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