The Israeli gCJD E200K Longitudinal Biobank: A National Collaborative Data and Biological Samples Repository Platform

Background: Genetic Creutzfeldt-Jakob Disease (gCJD) due to the E200K mutation represents the most frequent hereditary prion disorder globally, with Israel harboring the largest known cluster within specific ethnic communities. Over the past three years, the Israeli gCJD Biobank has evolved into a nationwide collaborative effort integrating clinical, genetic, and community-driven initiatives aimed at early detection, biomarker discovery, and translational research.

Objective: To develop an AI-ready, collaborative biobank for integrating data and accelerating translational research in prion diseases.

Methods: The biobank was established in 2022 through a partnership among the CJDFI, a representative of the patient community, the Soroka Negev Biobank, and MIDGAM, the national biorepository network. This program combines community engagement, longitudinal clinical follow-up, and AI-enabled data integration. Biological materials —blood, saliva, urine, and nasal swabs —are collected alongside detailed family, environmental, and medical data. The initiative operates under broad consent and is open to international collaboration.

Results: After three years, 323 individuals from over 600 families have been enrolled, representing an unprecedented level of community participation. Genetic analysis revealed 9% symptomatic carriers (n=28), 26% asymptomatic carriers (n=83), and 32% confirmed non-carriers (n=102), while the remaining participants are at various degrees of genetic risk. Seventy-nine participants completed a second visit, 17 a third, and nine a fourth.

Conclusion: The Israeli gCJD Biobank demonstrates a successful community-based, AI-ready platform for advancing prion diseases research. Its multifaceted approach, combining clinical surveillance, community trust, biobanking, research collaborations and computational analysis, serves as a scalable framework for accelerating discoveries in prion diseases.