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