PROSPECT Registry for Individuals at Risk for Genetic Prion Disease

NCT07732608 | Not Yet Recruiting

• 1 other identifier: STUDY20251556
• Study Type: observational
• Target: 1,000
• Locations: 0 countries
• Sites: N/A

Brief Summary

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

Conditions

Prion Diseases

Keywords

PRNP mutation; Natural history; Genetic testing

Outcome Measures

Primary Outcomes (1)

• Disease Onset or Death

  To determine the occurrence of disease onset or death among individuals at risk for genetic prion disease according to PRNP genotype.

  Baseline and annual follow-up assessments for up to 10 years after enrollment.

Study Arms (1)

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults aged 18 years and older who are at risk for genetic prion disease based on family history. Participants must be willing to undergo genetic testing and longitudinal follow-up and must be asymptomatic at enrollment.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospitals Cleveland Medical Center: lead
• Case Western Reserve University: collaborator
• CJD Foundation: collaborator
• Prion Alliance: collaborator

Related Publications (1)

• 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 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Saliva samples will be collected from participants for genetic testing and analysis of PRNP mutations associated with genetic prion disease. DNA will be extracted from saliva specimens and retained in accordance with study procedures and participant consent.

MeSH Terms

Conditions

Prion Diseases

Condition Hierarchy (Ancestors)

Central Nervous System Infections; Infections; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases

Study Officials

• Brian S Appleby, M.D.

  Case Western Reserve University/University Hospital's Cleveland Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Margaret Verba, MA

CONTACT

216-368-2062; mmv57@case.edu

Katie Glisic, MA

CONTACT

216-368-0587; kae13@case.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Physician

Study Record Dates

• First Submitted: July 23, 2026
• First Posted: July 29, 2026
• Study Start (Estimated): August 17, 2026
• Primary Completion (Estimated): August 1, 2036
• Study Completion (Estimated): August 1, 2036
• Last Updated: July 30, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share