Genetic program for Progressive Supranuclear Palsy and related conditions
The CurePSP Genetics Program
This study is collecting DNA from adults with Progressive Supranuclear Palsy and similar conditions to see how genetics might help improve diagnosis and care for patients.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 35 Years and up |
| Sex | All |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT06647641 on ClinicalTrials.gov |
What this trial studies
This observational genetic program aims to collect DNA samples from adults diagnosed with Progressive Supranuclear Palsy (PSP), Corticobasal Syndrome (CBS), Multiple System Atrophy (MSA), and related neurological conditions. Up to 1,000 participants will undergo whole genome sequencing at the National Institutes of Health, with subsequent confirmation of pathogenic variants through CLIA-approved testing. The study seeks to enhance understanding of genetic factors associated with these conditions, which may improve diagnostic criteria and inform clinical care and genetic counseling for patients and their families.
Who should consider this trial
Good fit: Ideal candidates include adults aged 35 or older with a clinical diagnosis of PSP, CBS, MSA, or related neurological diseases, as well as unaffected family members with a relevant family history.
Not a fit: Patients who do not have a clinical diagnosis of PSP, CBS, MSA, or related conditions, or those who are unwilling to undergo genetic testing may not benefit from this study.
Why it matters
Potential benefit: If successful, this program could lead to better diagnostic tools and personalized treatment options for patients with PSP, CBS, MSA, and related conditions.
How similar studies have performed: Other genetic studies in similar neurodegenerative conditions have shown promise, indicating that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Boston, Massachusetts
- Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Study coordinator: MGH Research Coordinators
- Email: mghpsp@partners.org
- Phone: 617-643-2400
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.