Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion.
Sonia M Vallabh, Meredith A Mortberg, Shona W Allen...
https://pubmed.ncbi.nlm.nih.gov/38896810Actively Recruiting
Age: 18Years - 85Years
All Genders
Healthy Volunteers
ID05124392
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
N/A
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
Researchers are studying individuals at risk for familial prion diseases such as Creutzfeldt Jakob Disease, Gerstmann-Sträussler-Scheinker syndrome, and Familial Fatal Insomnia. The aim is to identify biomarkers that can predict when symptoms might begin in people who carry genetic risks but do not yet show signs of disease. This research may also help guide future clinical trials focused on early treatment options. Participants in this observational study will attend annual visits at a clinic where they will undergo medical exams, blood tests, cognitive assessments, and questionnaires. They will also have spinal fluid collected, and optional MRI scans may be performed. Travel support and stipends are offered to assist with participation. Throughout the study, researchers will monitor biomarkers found in cerebrospinal fluid such as YKL40, Tau, Nfl, GFAP, prion protein, and other prion markers, alongside cognitive function over the course of one year. The study involves adults aged 18 to 85 who meet specific family history or genetic criteria and are medically able to complete testing, with ongoing safety and health monitoring during participation.
CONDITIONS
Brief Title
Biomarker Profiling in Individuals at Risk for Prion Disease
Who Can Participate
Age: 18Years - 85Years
All Genders
Healthy Volunteers
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 vision and hearing to complete cognitive testing
- Fluent in English
- At least 5 years of education
- Capable of providing informed consent and following study procedures
- No MRI contraindications as determined by screening (for PRNP mutation carriers only)
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 problems, Alzheimer's disease, Parkinson's disease, frontotemporal lobar degeneration, or other neurodegenerative diseases
- History of alcohol or substance abuse or dependence within the past two years
- Significant systemic illness, unstable medical condition, or pregnancy that could pose safety risks or affect study participation
- Blood clotting disorders or use of anti-coagulant therapy increasing risk for blood draws or lumbar puncture beyond safe limits as measured by standard tests
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Long-term Monitoring
Duration - Up to 6 years
Participants attend annual visits to the clinic for medical exams, blood draws, cognitive tests and questionnaires, spinal fluid collection, and optional MRI to measure biomarkers over time.
Annual visits
Trial Site Locations
Total: 1 location
1
Alzheimer's Clinical and Translational Research Unit
Charlestown, Massachusetts, United States, 02129
Actively Recruiting
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Research Team
S
Sophia D'Alessandro
A
Alison McManus, DNP
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
Frequently Asked Questions
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