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The CurePSP Genetics Program

RecruitingObservational studyHealthy volunteers welcome

Who can join

Ages 35 and older · All sexes · Healthy volunteers welcome

Full eligibility criteria
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.

About the study

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.

What is being tested

Sponsor: Massachusetts General Hospital · Participants: 1,000 · Started: Oct 8, 2024

Contact the study team

Official record on ClinicalTrials.gov — NCT06647641

Locations in the U.S.

MassachusettsMassachusetts General Hospital, Boston

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.