Prospective Registry for People at Risk of Genetic Prion Disease
Official title: PROSPECT: A Registry and Longitudinal Natural History Study of Individuals at Risk for Genetic Prion Disease
Run by University Hospitals Cleveland Medical Center · NCT07732608 · Data updated 2026-11-12
This registry tests how PRNP gene mutations and related health changes unfold over time in adults who may develop genetic prion disease.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 2000 (estimated) |
| Sponsor | University Hospitals Cleveland Medical Center Academic / other |
| Locations | 1 site (Cleveland, Ohio) |
| Status | Recruiting |
| Started | August 25, 2026 |
| Main results expected | August 2036 |
| Study ends | August 2036 |
| Registry record updated | September 16, 2026 |
| Trial ID | NCT07732608 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults 18 years and older who are at risk for genetic prion disease due to family history and are willing to undergo genetic testing and long-term follow-up while residing in the United States.
✕Probably not a fit
Individuals who are symptomatic at enrollment or unable to consent may not directly benefit from the registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
PROSPECT is a prospective, observational registry following adults at risk for genetic prion disease to document genetic, cognitive, neuropsychiatric, symptom, and survival data over time. The study aims to characterize when symptoms begin and how the disease progresses in people with or at risk for PRNP mutations. Data from this registry could inform future biomarker development, and support prevention and therapeutic trials. Participation involves genetic testing and regular follow-up through study procedures, with data collected across multiple domains. The study is conducted in the United States with collaborative involvement from Case Western Reserve University, the CJD Foundation, and Prion Alliance, led by a sponsor from University Hospitals Cleveland Medical Center.
Why it matters
Potential benefit: If successful, the registry could help accelerate biomarker discovery and guide design of future prevention and treatment trials for genetic prion disease.
How similar studies have gone: This approach builds on prior natural history studies and registries in genetic prion disease, with potential novelty in longitudinal, multi-domain data collection.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
University Hospitals Cleveland Medical Center
Cleveland, Ohio, United States Recruiting
Study contacts
- Principal investigator: Brian S Appleby, M.D. — Case Western Reserve University/University Hospital's Cleveland Medical Center
- Study coordinator: Margaret Verba, MA
- Email: margaret.verba@uhhospitals.org
- Phone: 216-368-2062
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.