Recruiting

Genetic Testing

Sponsor:

Massachusetts General Hospital

Code:

NCT06647641

Conditions

PSP

PSP - Progressive Supranuclear Palsy

Corticobasal Syndrome

Corticobasal Syndrome(CBS)

Corticobasal Degeneration Syndrome

Eligibility Criteria

Sex: All

Age: 35+

Healthy Volunteers: Accepted

Interventions

Whole genome sequencing will be performed at the NIH

Study Details

Brief summary:

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.

Conditions

PSP

PSP - Progressive Supranuclear Palsy

Corticobasal Syndrome

Corticobasal Syndrome(CBS)

Corticobasal Degeneration Syndrome

Study ID

NCT06647641

Start date

Oct 8, 2024

Status verified date

Jan, 2026

Completion date

Dec 31, 2030

Anticipated

Primary completion date

Dec 31, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 35+

Healthy Volunteers: Accepted

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 Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

CurePSP Genetics Program

Adults with PSP, CBD or MSA

Interventions

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.

Primary outcome measure

  • Whole genome sequencing [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

MGH Research Coordinators

617-643-2400mghpsp@partners.org

CurePSP Hope Line

800-457-4777info@curepsp.org

Locations

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Chinyere Obasi, BA

617-643-2400mghpsp@partners.org

Catherine Martinez, BA

617-643-2400cmartinez26@mgh.harvard.edu

Principal Investigator:

Anne-Marie Wills, MD MPH

More Information

Sponsor

Massachusetts General Hospital

Last update posted

Jan 14, 2026

Last verified

Jan, 2026

Keywords

  • genetic study
  • Progressive Supranuclear Palsy
  • Multiple System Atrophy
  • Corticobasal
  • CurePSP
  • PSP
  • MSA
  • CBD
  • Genes

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-14. This information was provided to ClinicalTrials.gov by Massachusetts General Hospital on 2026-01-14.