NCT06647641

The CurePSP Genetics Program

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: Massachusetts General Hospital · Academic / Other
• Sex: All
• Age: 35 Years
• Healthy volunteers: Accepted

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.

Detailed description

Genetic research is important for basic, translational, and clinical researchers, and are particularly important for rare disease investigations. Understanding a patient's genetic background may also facilitate participant recruitment for targeted genetic therapeutic trials and has the potential to empower participants with PSP, CBS, MSA, or related neurological diseases and clinicians to make more informed decisions about their clinical care plan. Furthermore, genetic research augments the clinical counseling process by offering participants and their families a clearer understanding of disease risk in relatives. Overall, this study may help to refine current diagnostic criteria for PSP, CBS, MSA, and related neurological conditions, inform genetic counseling, fuel future research studies, and provide insights into potential therapeutic paradigms.

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

Type	Name	Description
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.

Timeline

• Start date: 2024-10-08
• Primary completion: 2028-12-31
• Completion: 2030-12-31
• First posted: 2024-10-18
• Last updated: 2026-01-14

Locations

1 site across 1 country: United States