Massachusetts General Hospital
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.
This study aims to measure biomarkers longitudinally in individuals at risk of developing genetic prion disease to identify clinical assays and molecular markers that: can inform our understanding of pre-clinical pathology, predict timing of disease onset in pre-symptomatic individuals, and enable development and evaluation of novel treatment efficacy in pre-symptomatic or early symptomatic individuals. Participation in the study involves annual visits to the clinic site in Charlestown, MA. Study visits include: a medical exam, blood draws, cognitive tests and questionnaires, and spinal fluid…
Inclusion Criteria: 1. Aged 18 - 85, 2. One of the following: * a. Known carrier of pathogenic PRNP mutation * b. History of probable or definite prion disease in biological parent and other family members * c. Non-carrier family members and/or unrelated previously enrolled negative control volunteers 3. Medically safe to undergo blood draw, lumbar puncture and cognitive testing, 4. Adequate visual and auditory acuity to complete cognitive testing, 5. Fluent in English, 6. At least 5 years of education, 7. Capable of providing informed consent and following study procedures, Exclus…
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