Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.
Edwin Jabbari, Shunsuke Koga, Rebecca R Valentino...
https://pubmed.ncbi.nlm.nih.gov/33341150Actively Recruiting
Age: 35Years +
All Genders
Healthy Volunteers
ID06647641
The CurePSP Genetics Program
Led by Massachusetts General Hospital · Updated on 2026-01-14
1000
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
Sponsors
M
Massachusetts General Hospital
Lead Sponsor
C
CurePSP Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are conducting an observational, prospective genetic study focused on adults diagnosed with Progressive Supranuclear Palsy (PSP), Corticobasal Syndrome (CBS), Multiple System Atrophy (MSA), and related neurological diseases. The study aims to collect DNA samples from up to 1,000 participants, including their families, to better understand genetic backgrounds and improve diagnostic criteria and clinical care. Genetic research in this area also supports future targeted genetic therapy trials and offers families clearer insights about disease risks. Participants will provide blood samples that undergo whole genome sequencing using a research method at the National Institutes of Health. This sequencing is not CLIA-certified and is intended to identify known and potentially new genetic variants related to these neurological conditions. If any genetic variants are suspected to be related, they will be confirmed by CLIA-approved tests. The study carries minimal risk to participants. During the study, participants may complete surveys online or by phone and provide informed consent directly or through a legally authorized representative. Researchers will monitor genetic information over a five-year period using whole genome sequencing. The study also collects clinical diagnosis information confirmed by healthcare providers. Participation includes genetic counseling opportunities and the option to receive relevant genetic test results. The study is expected to continue until the end of 2030.
CONDITIONS
Brief Title
The CurePSP Genetics Program
Who Can Participate
Age: 35Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Adults aged 35 or older with a clinical diagnosis of PSP, CBS, MSA, or related neurological disease confirmed by a healthcare provider, or unaffected family members with relevant family history
- Meet specific clinical diagnostic criteria for PSP, MSA, or CBS as determined by their clinician
- Willingness to undergo genetic testing and option to receive genetic results
- Ability to provide full informed consent in writing or electronically or through a legally authorized representative
- Ability to perform study activities or have a designee to assist with them, including completing surveys online or orally
You will not qualify if you...
- Received a blood transfusion within the past 3 months
- Active blood cancers such as lymphoma or leukemia
- Had a bone marrow transplant within the past 5 years
- Under the age of 35 or age of majority at the time of consenting
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote)
Sample Collection
Duration - Single event
Participants provide samples for whole genome sequencing to help identify genetic variants associated with neurological diseases.
1 visit (in-person)
Long-term Monitoring
Duration - Up to 5 years
Participants may be observed over time to better understand genetic information and its impact on clinical care and counseling.
Periodic assessments may occur depending on study needs
Trial Site Locations
Total: 1 location
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
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Research Team
M
MGH Research Coordinators
C
CurePSP Hope Line
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.
Jason A Chen, Zhongbo Chen, Hyejung Won...
https://pubmed.ncbi.nlm.nih.gov/30089514Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Günter U Höglinger, Nadine M Melhem, Dennis W Dickson...
https://pubmed.ncbi.nlm.nih.gov/21685912Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.
Jonathan D Rohrer, Dominic Paviour, Jana Vandrovcova...
https://pubmed.ncbi.nlm.nih.gov/20838030