Actively Recruiting
Biomarker Profiling in Individuals at Risk for Prion Disease
Led by Massachusetts General Hospital · Updated on 2026-04-22
150
Participants Needed
1
Research Sites
495 weeks
Total Duration
On this page
Sponsors
M
Massachusetts General Hospital
Lead Sponsor
B
Broad Institute of MIT and Harvard
Collaborating Sponsor
AI-Summary
What this Trial Is About
We are doing this research to identify biomarkers in individuals who are at-risk for familial prion disease. We hope to use these biomarkers to predict timing of disease onset in pre-symptomatic individuals and to guide the direction of future clinical trials.
CONDITIONS
Official Title
Biomarker Profiling in Individuals at Risk for Prion Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Aged 18 to 85 years
- Known carrier of pathogenic PRNP mutation, or
- History of probable or definite prion disease in biological parent and other family members, or
- Non-carrier family members and/or unrelated previously enrolled negative control volunteers
- Medically safe to undergo blood draw, lumbar puncture, and cognitive testing
- Adequate visual and auditory ability to complete cognitive testing
- Fluent in English
- At least 5 years of education
- Capable of providing informed consent and following study procedures
- No contraindications to MRI scanning for PRNP mutation carriers as determined by MRI screening
You will not qualify if you...
- Any central nervous system disease other than asymptomatic or early prion disease, including stroke, brain tumor, multiple sclerosis, significant head trauma with lasting neurological or cognitive deficits, Alzheimer's disease, Parkinson's disease, frontotemporal lobar degeneration, or other known neurodegenerative diseases
- History of alcohol or other substance abuse or dependence within the past two years
- Any significant systemic illness, unstable medical condition, or pregnancy posing safety risk or affecting study participation
- Coagulopathy or use of anti-coagulant therapy increasing risk for blood draw or lumbar puncture, with PT/PTT and INR results over 1.5 standard deviations above upper normal limits
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Alzheimer's Clinical and Translational Research Unit
Charlestown, Massachusetts, United States, 02129
Actively Recruiting
Research Team
S
Sophia D'Alessandro
CONTACT
A
Alison McManus, DNP
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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