PROSPECT Registry for Individuals at Risk for Genetic Prion Disease

Purpose

PROSPECT is a prospective observational registry and longitudinal natural history study of adults at risk for genetic prion disease.

Condition

  • Prion Diseases

Eligibility

Eligible Ages
Over 18 Years
Eligible Sex
All
Accepts Healthy Volunteers
Yes

Inclusion Criteria

  • Age ≥18 years - At risk for genetic prion disease based on family history - Willing to comply with all study procedures including genetic testing and longitudinal follow-up - Resident in the United States - Sufficiently proficient in English to participate in all study procedures

Exclusion Criteria

  • Lacking capacity to independently consent at time of initial enrollment - Symptomatic of prion disease at time of initial enrollment - Inability to provide a backup contact

Study Design

Phase
Study Type
Observational [Patient Registry]
Observational Model
Cohort
Time Perspective
Prospective

Arm Groups

ArmDescriptionAssigned Intervention
Individuals at risk for Genetic Prion Disease Adults age 18 years and older who are at risk for genetic prion disease based on family history and enrolled in the PROSPECT longitudinal natural history registry.

Recruiting Locations

University Hospitals Cleveland Medical Center
Cleveland, Ohio 44106
Contact:
Margaret Verba, MA
216-368-2062
mmv57@case.edu

More Details

Status
Recruiting
Sponsor
Brian Appleby

Study Contact

Margaret Verba, MA
216-368-2062
mmv57@case.edu

Detailed Description

The study collects genetic, cognitive, neuropsychiatric, symptom, and survival data to characterize disease onset and progression in individuals carrying or at risk for PRNP mutations. Information from this registry may support future biomarker development, prevention trials, and therapeutic studies in genetic prion disease