PROSPECT: A Registry and Longitudinal Natural History Study of Individuals at Risk for Genetic Prion Disease
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Brian Appleby
- Enrollment
- 2,000
- Locations
- 1
- Primary Endpoint
- Disease Onset or Death
Study Overview
Brief Summary
PROSPECT is a prospective observational registry and longitudinal natural history study of adults at risk for genetic prion disease.
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
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- 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
Arms & Interventions
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.
Outcomes
Primary Outcomes
Disease Onset or Death
Time Frame: Baseline and annual follow-up assessments for up to 10 years after enrollment.
To determine the occurrence of disease onset or death among individuals at risk for genetic prion disease according to PRNP genotype.
Secondary Outcomes
No secondary outcomes reported
Investigators
Brian Appleby
Physician
University Hospitals Cleveland Medical Center