PROSPECT Registry for Individuals at Risk for Genetic Prion Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Prion Diseases. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
PROSPECT: A Registry and Longitudinal Natural History Study of Individuals at Risk for Genetic Prion Disease
Overview
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
Primary outcome measures
- Disease Onset or Death [Time frame: Baseline and annual follow-up assessments for up to 10 years after enrollment.]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Publications
- Lian Y, Kotobelli K, Glisic K, Sprague DA, Vallabh SM, Appleby BS, Minikel EV. Mortality of individuals with antemortem genetic testing for PRNP variants in the United States, 1998-2024. medRxiv [Preprint]. 2025 Oct 9:2025.10.03.25337271. doi: 10.1101/2025.10.03.25337271. PMID 41256127
Identifiers
NCT: NCT07732608 · STUDY20251556