The CurePSP Genetics Program

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.

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)

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.

Sponsors & Collaborators

• CurePSP Foundation

  collaborator UNKNOWN

• National Institutes of Health (NIH)

  collaborator NIH

• Massachusetts General Hospital

  lead OTHER

Eligibility

Min Age

35 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2024-10-08

Primary Completion

2028-12-31

Completion

2030-12-31

Countries

• United States

Study Locations