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The CurePSP Genetics Program
Sponsor: Massachusetts General Hospital
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.
Key Details
Gender
All
Age Range
35 Years - Any
Study Type
OBSERVATIONAL
Enrollment
1000
Start Date
2024-10-08
Completion Date
2030-12-31
Last Updated
2026-01-14
Healthy Volunteers
Yes
Conditions
Interventions
Whole 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.
Locations (1)
Massachusetts General Hospital
Boston, Massachusetts, United States