Prion DiseasesPROSPECTNCT07732608
PROSPECT Registry for Individuals at Risk for Genetic Prion Disease
An observational study of Prion Diseases, run by Brian Appleby at 1 site in United States.
Trial summary
PROSPECT is a prospective observational registry and longitudinal natural history study of adults at risk for genetic prion disease. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Prion Diseases
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Aug 2026to Aug 2036
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University Hospitals Cleveland Medical Center
Cleveland, Ohio, 44106
Margaret Verba, MA, 216-368-2062, mmv57@case.edu
About this study
Official title: PROSPECT: A Registry and Longitudinal Natural History Study of Individuals at Risk for Genetic Prion Disease
PROSPECT is a prospective observational registry and longitudinal natural history study of adults at risk for genetic prion disease.
Read the 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
- Conditions
- Prion Diseases
- Keywords
- PRNP mutation, Natural history, Genetic testing
- Medical subject headings
- Prion Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline and annual follow-up assessments for up to 10 years after enrollment.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jul 2026
- Study start25 Aug 2026
- Primary completionAug 2036 (estimated)
- Study completionAug 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Prion DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Brian Appleby
- Sponsor type
- University, hospital or other
- Collaborators
- Case Western Reserve University, CJD Foundation, Prion Alliance
- Responsible party
- Sponsor-investigator, Brian Appleby, University Hospitals Cleveland Medical Center
- Investigators
- Brian S Appleby, M.D., Principal investigator, Case Western Reserve University/University Hospital's Cleveland Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07732608
- Sponsor's protocol ID
- STUDY20251556
- Acronym
- PROSPECT
- Status last verified
- Sep 2026
- First submitted
- 23 Jul 2026
- Last updated
- 16 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 41256127
Study at a glance
From the registry record, last updated by the sponsor on 16 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PROSPECT: A Registry and Longitudinal Natural History Study of Individuals at Risk for Genetic Prion Disease
- ClinicalTrials.gov ID
- NCT07732608
- Acronym / sponsor ID
- PROSPECT / STUDY20251556
- Conditions
- Prion Diseases
- Keywords
- PRNP mutation, Natural history, Genetic testing
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Brian ApplebyUniversity, hospital or other
- Collaborators
- Case Western Reserve University, CJD Foundation, Prion Alliance
- Study start
- 25 Aug 2026 (actual)
- Primary completion
- Aug 2036 (estimated)
- Study completion
- Aug 2036 (estimated)
- First posted
- 29 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2026.
- Background: PubMed 41256127Lian 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Brian S Appleby, M.D. principal investigator
Case Western Reserve University/University Hospital's Cleveland Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Prion Diseases, run by Brian Appleby at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Margaret Verba, MA (216-368-2062, margaret.verba@uhhospitals.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease Onset or Death (time frame: Baseline and annual follow-up assessments for up to 10 years after enrollment.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07732608, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Sep 2026.