The CurePSP Genetics Program

January 12, 2026 updated by: Anne-Marie Alexandra Wills, MD, Massachusetts General Hospital

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02114
        • Recruiting
        • Massachusetts General Hospital
        • Contact:
        • Contact:
        • Principal Investigator:
          • Anne-Marie Wills, MD MPH

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Adults with PSP, CBD/CBS or MSA

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
CurePSP Genetics Program
Adults with PSP, CBD or MSA
Other: Whole genome sequencing will be performed at the NIH
All samples will undergo non-CLIA approved whole genome sequencing on a research basis in collaboration with Sonja Scholz, MD, PhD at the Neurodegenerative Diseases Research Unit of the National Institutes of Health (Bethesda, MD). This sequencing method allows for the identification of not only variants known to be associated with these disorders but also potentially novel variants.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Whole genome sequencing
Time Frame: 5 years
All samples will first undergo non-CLIA approved whole genome sequencing on a research basis in collaboration with Sonja Scholz, MD, PhD at the Neurodegenerative Diseases Research Unit of the National Institutes of Health (Bethesda, MD). This sequencing method allows for the identification of not only variants known to be associated with these disorders but also potentially novel variants.
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Massachusetts General Hospital

Collaborators

National Institutes of Health (NIH)
CurePSP Foundation

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 8, 2024

Primary Completion (Estimated)

December 31, 2028

Study Completion (Estimated)

December 31, 2030

Study Registration Dates

First Submitted

October 16, 2024

First Submitted That Met QC Criteria

October 16, 2024

First Posted (Actual)

October 18, 2024

Study Record Updates

Last Update Posted (Estimated)

January 14, 2026

Last Update Submitted That Met QC Criteria

January 12, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2024P001971

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

All sequencing data will be deposited on a controlled-access repository such as the NIH Database of Genotypes and Phenotypes (dbGaP) and the Accelerating Medicines Partnership in Parkinson's Disease (AMP-PD) cloud-based data repository for data sharing by the genetic testing laboratory. Data access requests will be reviewed and approved by the corresponding repository's data access committee, such as the dbGaP Data Access Committee and the AMP-PD Access and Compliance Team, in accordance with their data use policies. No identifiable information will be shared.

IPD Sharing Time Frame

June, 2025- December 2030

IPD Sharing Access Criteria

Data access requests will be reviewed and approved by the corresponding repository's data access committee, such as the dbGAP Data Access Committee and the AMP-PD Access and Compliance Team, in accordance with their data use policies. No identifiable information will be shared.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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