The CurePSP Genetics Program

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Massachusetts General Hospital
Study ID
NCT06647641
Status
Recruiting

Conditions

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

Eligibility Criteria

Sex
ALL
Age
35 Years - N/A
Healthy Volunteers
Accepted

Interventions

  • Whole genome sequencing will be performed at the NIH — OTHER
    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.

Study Details

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 Dates

Start date
Oct 8, 2024
Status verified
Jan 2026
Primary completion
Dec 31, 2028
Completion
Dec 31, 2030

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: CurePSP Genetics Program
    Adults with PSP, CBD or MSA

Primary Outcome Measure

Whole genome sequencing [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Massachusetts General HospitalBostonMassachusetts02114
Chinyere Obasi, BA
617-643-2400
Catherine Martinez, BA
617-643-2400
Anne-Marie Wills, MD MPH (PRINCIPAL_INVESTIGATOR)

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