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RECRUITING
NCT06647641

The CurePSP Genetics Program

Sponsor: Massachusetts General Hospital

View on ClinicalTrials.gov

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

Interventions

OTHER

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