Biomarker Profiling in Individuals at Risk for Prion Disease
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.
• 1\. Aged 18 - 85,
• One of the following:
‣ Known carrier of pathogenic PRNP mutation
⁃ History of probable or definite prion disease in biological parent and other family members
⁃ 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 acuity 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 as determined via the Martinos Center MRI Screening process (for PRNP mutation carriers ONLY)