Genetic program for Progressive Supranuclear Palsy and related conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Massachusetts General Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Study coordinator: MGH Research Coordinators
• Email: mghpsp@partners.org
• Phone: 617-643-2400

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Imaging biomarkers in corticobasal syndrome

  We will use brain imaging and blood tests to see if inflammation is linked to white-matter damage in people with corticobasal syndrome.

  Recruiting Mayo Clinic · Rochester, Minnesota · NCT07000851

• Natural history of atypical parkinsonian syndromes: a multi-center observation

  This study follows people with APS like MSA, DLB, PSP, and CBD to see how their symptoms and brain images change over time.

  Recruiting at 6 sites Second Affiliated Hospital of Soochow University · Changshu, Jiangsu and 19 other locations · NCT07805967

• Biobank for studying ALS and Alzheimer's diseases

  This study is collecting blood, skin samples, and health information from people to see how genetics might help us understand and find treatments for ALS and Alzheimer's disease.

  Recruiting New York Stem Cell Foundation Research Institute · New York, New York · NCT06203106

• Using a non-invasive device to help manage symptoms in people with Parkinson's disease

  This study is testing a new device that uses gentle vibrations to see if it can help people with Parkinson's disease feel better and manage their symptoms.

  Recruiting Queen Mary University of London · London · NCT06174948

• NAD replenishment therapy for atypical parkinsonism

  This study is testing if taking a supplement called Nicotinamide Riboside can help people with atypical parkinsonism feel better and slow down their symptoms.

  Recruiting at 3 sites Phase 2 Haukeland University Hospital · Oslo, Oslo and 2 other locations · NCT06162013

• A study on early diagnosis and biomarkers for dementia and related diseases

  This study is testing new ways to spot dementia and related diseases early by looking for specific markers in the brain and body, to help people at high risk and track how well new treatments are working.

  Recruiting at 2 sites Skane University Hospital · Ängelholm and 1 other locations · NCT03174938

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.