Studying Biomarkers in Adults at Risk for Genetic Prion Disease to Predict Onset and Guide Future Treatments

What this Trial Is About

Researchers are studying individuals at risk for familial prion diseases such as Creutzfeldt Jakob Disease, Gerstmann-Strussler-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.

Biomarker Profiling in Individuals at Risk for Prion Disease