What this study is
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's being tested
- Whole genome sequencing will be performed at the NIH
Intervention · OTHER
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.
Study details
- Sponsor
- Massachusetts General Hospital
- Conditions
- PSP · PSP - Progressive Supranuclear Palsy · Corticobasal Syndrome · Corticobasal Syndrome(CBS) · Corticobasal Degeneration Syndrome · Corticobasal Degeneration · Corticobasal Degeneration (CBD) · Corticobasal Syndrome (CBS) · MSA · MSA - Multiple System Atrophy · MSA-C · Multiple System Atrophy · Multiple System Atrophy (MSA) With Orthostatic Hypotension · Multiple System Atrophy - Cerebellar Subtype (MSA-C) · Multiple System Atrophy - Parkinsonian Subtype (MSA-P) · Multiple System Atrophy, Cerebellar Type · Multiple System Atrophy, Parkinsonian Type · Progressive Supranuclear Palsy · Progressive Supranuclear Palsy(PSP) · Progressive Supranuclear Palsy (PSP)
- Enrolling
- 1,000 people
- Starts
- 2024-10-08
- Est. completion
- 2030-12-31
- Record
- View on ClinicalTrials.gov ↗
Who can join
Age 35 Years and overSex ALLHealthy volunteers AcceptedYou may qualify if
- 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.
- 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.
- Willingness to undergo genetic testing. Participants will have the option to receive relevant genetic test results.
- 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.
- Are able to perform or have a designee who can perform study activities (including completion of either online or orally administered surveys).
You can't join if
- Individuals who have received a blood transfusion within the past 3 months.
- Individuals who have active hematologic malignancies such as lymphoma or leukemia.
- Individuals who have had a bone marrow transplant within the past 5 years.
- Individuals under the age of 35 or age of majority in applicable states at the time of consenting.
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (1)
1 openMassachusetts General Hospital
Boston, Massachusetts, United States
- Chinyere Obasi, BA · Contact617-643-2400mghpsp@partners.org
- Catherine Martinez, BA · Contact617-643-2400cmartinez26@mgh.harvard.edu
- Anne-Marie Wills, MD MPH · Principal investigator
Recruiting
Study team
Sponsor
Massachusetts General Hospital
Study ID 2024P001971
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.