A new French Rare Eye Diseases Database (FREDD) for Retinitis Pigmentosa phenotype/genotype research: RaReTiA a pilot Artificial Intelligence project

The RaReTiA project is led by the French National Institute of Health and Medical Research (INSERM) and is one of the laureates of the France 2030 call for projects, "Support and Assistance for the Establishment of Hospital Health Data Warehouses." All stakeholders in this project are based in France. This four-year initiative aims to improve the management of patients suffering from a group of rare diseases known as retinitis pigmentosa (RP), which are hereditary retinal dystrophies and a major cause of visual impairment. These rare diseases are characterized by significant heterogeneity in phenotypes, inheritance patterns, and genotypes. Their diagnosis and phenotyping rely on constantly evolving techniques, and recently, artificial intelligence has delivered outstanding results in ophthalmology for common diseases through deep learning analysis of retinal images.

Due to their rare disease status, RP presents a significant public health challenge, as patients and specialized clinicians are sparsely distributed across France, potentially leading to medical wandering for some patients. This contributes to the difficulty in recruiting RP patients for clinical studies aimed at developing curative therapies. Well aware of this issue, the French rare disease sector SENSGENE has identified the need for efficient collection of high-quality data on rare eye diseases, including RP.

To address this, the RaReTiA project aims to create the first national Health Data Warehouse for rare eye diseases, called FREDD (French Rare Eye Diseases Database), within France Cohortes and the SENSGENE network. The project is divided into two phases: phase I, launched in September 2022, focuses on the establishment of the FREDD health data warehouse. Phase II will initiate the use and exploitation of the collected data. FREDD, the first database of its kind, will enable the reuse of healthcare data from patients with rare eye diseases. These data are routinely collected by reference centers monitoring these patients, stored within the hospital information systems of each participating center.

The project is currently in the final phase of setting up the data warehouse, with its deployment across healthcare data provider centers. The start of data collection is imminent.