Italian Autoimmune Liver Disease (IT-AILD) Clinical Research Network (CRN)

Autoimmune liver diseases (AILDs) are rare diseases with significant morbidity and mortality. Across the AILDS primary biliary cirrhosis (PBC), autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and IgG4-related diseases (IgG4- RD) there are significant areas of unmet need. Due to their low prevalence, expertise is scarce and scattered, available in only a small number of centres. This makes it hard for the healthcare system to develop expertise locally and for patients to reach a timely and accurate diagnosis.
As the research landscape in AILDs evolves in parallel with high throughput -omics platforms and the development of digital technologies, the evolution of large national and international patient cohorts is being accompanied by opportunities to translate science into new therapies and care pathways. Alongside this, there is an opportunity to improve the patients¿ clinical pathway, from the initial point of accurate and timely diagnosis, to the management of end-stage liver disease and co- existent symptoms.
In this application we define the areas of unmet need in AILD, which relate principally to an improvement of the understanding of the basis and the course of the diseases, symptom management, trial design and delivery, and structured care delivery; and propose the development of the AILD Clinical Research Network (IT-AILD-CRN).
The three pillars of the IT-AILD-CRN are 1) research, 2) patients access and 3) the development of an integrated healthcare system. The development of a multi-disease registry and bio-repository linked will enable translational and clinical research on natural history and variant disease courses, case definition, genotype-phenotype correlation, risk stratification, and identification of meaningful endpoints for clinical trials. The network will improve patients access to rare disease care pathways and therapies, and enable the evaluation of therapeutic safety and effectiveness under real-world conditions and to support the regulatory evaluation of benefits and risks of medicines. The network will leverage on the increase awareness on rare liver diseases and advances in digital technologies to drive peer-to-peer learning and the sharing of knowledge, resources and capacities to strengthen health systems for rare diseases. It will boost partnerships between primary care, hospitals and rare disease hubs to overcome disjointed care for rare diseases and fosters alliances and innovation among rare disease healthcare stakeholders. Specifically, it will develop regional integrated multi-disciplinary centres of excellence for care of patients with AILD that offer organized services and facilitate access to clinical trials, repurposed drugs and novel registered therapies. This will eventually maximize biomedical research translation for the benefit of patients, industry, and economy. The overarching goal of the IT-AILD-CRN is to enhance Italian research and public health infrastructure on rare AILDs by providing scientists, physicians, patients and policy-makers with a consistent instrument to improve knowledge and management of these diseases.