# National Creutzfeldt–Jakob disease research biobank, a novel approach to the establishment of the scientific platform: collaboration between patient advocacy group, scientists, regulators and physicians

## TL;DR

A new collaborative biobank in Israel is helping study Creutzfeldt–Jakob disease by bringing together patients, scientists, and regulators to collect biological samples and data.

## Contribution

A novel collaborative model for a CJD research biobank involving patient advocacy, scientists, regulators, and physicians.

## Key findings

- A pilot phase enrolled 250 participants, with families contributing 1 to 25 members each.
- The biobank aims to build a pool of 500 individuals, including CJD patients and their relatives.
- The model could serve as a blueprint for studying other rare diseases.

## Abstract

Creutzfeldt–Jakob disease (CJD) is a severe neurodegenerative disorder characterized by the abnormal accumulation of prion proteins. In Israel, a unique epidemiological pattern of CJD has been identified, specifically a genetic form (gCJD) associated with the E200K mutation in the PRNP gene. Investigating rare diseases such as CJD syndrome poses challenges due to their low prevalence, hindering the formation of an adequate patient cohort for comprehensive research and treatment trials. To overcome this limitation, biobanks have emerged as transformative tools for collecting and distributing biological specimens along with corresponding health data. Biobanks offer a solution to the inherent heterogeneity in rare diseases, allowing researchers to access diverse and extensive sample sets, thereby enhancing the understanding of disease nuances toward potential therapy. We introduce a novel collaborative model involving the Negev BioBank (NBB), the Creutzfeldt–Jakob Israel Foundation, the Israeli National BioBank for Research (MIDGAM), and the Israeli Ministry of Health. Each entity contributes unique expertise and resources to establish a comprehensive platform for studying the disease. The goal was to establish a participant pool of 500 individuals, including clinically diagnosed cases, confirmed carriers of the E200K mutation, and their first- and second-degree relatives. During the pilot phase of the last year, 250 participants were enrolled, with each family contributing between 1 and 25 participants. This collaborative approach involving communities, scientists, physicians, and regulatory bodies establishes a model applicable across various fields. These synergistic efforts aim to advance research on CJD and potentially serve as a blueprint for studying other rare diseases.

The online version contains supplementary material available at 10.1186/s13023-025-03703-6.