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, spinal fluid collection, and (optional) MRI.~Travel support and stipend is provided for interested individuals.
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.