Study on Preclinical Genetic Creutzfeldt-Jakob Disease in Adults Aged 50 and Older Tracking Biological Signs and Risk Factors in Patients and Their First-Degree Relatives

What this Trial Is About

Researchers are investigating genetic Creutzfeldt-Jakob Disease gCJD, a rare inherited prion disease causing rapid neurological decline and dementia, which is always fatal. The study focuses on individuals carrying the E200K mutation in the PRNP gene, particularly in Israel where many are at risk. The goal is to understand biological markers indicating early disease and factors influencing symptom onset by studying both patients and their first-degree relatives over time. The study includes two groups patients diagnosed with gCJD and healthy first-degree relatives who may or may not carry the E200K mutation. Healthy participants attend detailed yearly visits for four years involving clinical exams, blood and urine tests, gait analysis, brain MRI, lumbar puncture, and sleep studies. Brief visits occur every six months with shorter assessments and sample collections. Patients with gCJD are invited for one detailed visit similar to the relatives baseline. Participants undergo thorough evaluations including cognitive tests, imaging, and laboratory studies to track disease markers and brain changes. Researchers will monitor the presence of the abnormal prion protein in spinal fluid over eight years and use MRI scans to observe brain structure changes. The study involves regular follow-ups with clinical and biological assessments, aiming to enhance understanding of preclinical disease progression and risks.

A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)