What this Trial Is About

Rare diseases (RDs) are life-threatening or disabling conditions affecting fewer than 1 in 2000 people, often lacking adequate treatments and facing long diagnostic delays. This project aims to create the Scattered RD Biobank, a network connecting existing and new biobanks across Italy to improve the availability and quality of biological samples and data for research on RDs, especially cardiovascular and neurological rare diseases. The biobank network will address challenges of sample scarcity and fragmentation by harmonizing procedures and enhancing collaboration nationally and internationally. The Scattered RD Biobank will operate using a bidirectional Hub & Spoke model with two main hubs in northern and southern Italy coordinating multiple biobanks and reference centers. The project includes developing standardized operating procedures (SOPs) for the collection, processing, storage, and sharing of biological materials and related data, as well as implementing quality control systems to ensure sample reliability. New biobanks for Huntington's disease, Marfan Syndrome, Hereditary Angioedema, and Congenital Heart Diseases will also be established and integrated into the network. Participants will contribute biological samples and clinical data, which will be managed under strict ethical, legal, and quality standards. A centralized database and an online virtual biobank catalog will facilitate access and sharing of samples for research. The project emphasizes active involvement of patient organizations through meetings and focus groups to support transparency and trust. The study will last 24 months, focusing on establishing and harmonizing the biobank network to support future collaborative research on rare diseases.

ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria