RecruitingNCT06647641

The CurePSP Genetics Program

Sponsor

Massachusetts General Hospital

Enrollment

1,000 participants

Start Date

Oct 8, 2024

Study Type

OBSERVATIONAL

Conditions

PSP PSP - Progressive Supranuclear Palsy Corticobasal Syndrome Corticobasal Syndrome(CBS)Corticobasal Degeneration Syndrome Corticobasal Degeneration Corticobasal Degeneration (CBD)

Summary

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.

Eligibility

Min Age: 35 Years

Plain Language Summary

Simplified for easier understanding

The CurePSP Genetics Program is collecting genetic information from people with rare brain diseases — including progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA) — as well as their unaffected family members, to better understand the genetic causes of these conditions. **You may be eligible if...** - You are 35 years or older - You have been clinically diagnosed with PSP, CBS, MSA, or a related neurological condition confirmed by your doctor, OR - You are an unaffected family member of someone with one of these conditions - You are willing to undergo genetic testing - You are able to complete online or oral surveys, either yourself or with help from a designee **You may NOT be eligible if...** - You have received a blood transfusion in the past 3 months - You have an active blood cancer such as lymphoma or leukemia - You have had a bone marrow transplant in the past 5 years - You are under 35 years of age Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERWhole genome sequencing will be performed at the NIH

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.