Résumé
Background: Rare Disease (RD) professionals have highlighted the critical need to implement national/international, multidisciplinary, high-quality cohort studies to address key scientific and medico-economic questions.Objective: To implement RD e-cohorts within a research framework, supported by an interoperable platform of mutualised expertise, resources and services, with shared standardised processes and tools. Material and Methods: The RaDiCo program coordinated by Inserm has launched 13 national/ international e-cohorts, covering 67 RDs, selected through a national call. Depending on cohorts, they aim at: Describing RDs’ natural history; Establishing phenotype-genotype correlations; Deciphering RDs’ pathophysiology; Identifying new therapeutic avenues; Assessing RDs’ societal and medico-economic impact; Identifying patients eligible for new therapeutic approaches.Results: The cohorts cover the following RDs: Congenital defects of the eye, Still's disease, Low Phospholipid-Associated Cholelithiasis syndrome, Cystinosis, Alport syndrome, Skin RD burden, Genetics of Intellectual Deficiency and Autism Spectrum Disorders, Imprinting disorders, Mucopolysaccharidoses, Primary Ciliary Dyskinesia, Periodic Paralysis, Idiopathic Interstitial Pneumonia, and Vascular Ehlers-Danlos Syndrome. As of June 2019, 4035 patients have been included and 1560 were eligible to come (recruitment target 97%);Discussion: RaDiCo assets are the following: A flexible, interoperable and easily sharable platform enabling the inclusion of new cohorts within an industrialization framework. Several secondary objectives of the cohorts have already been reached and published. RaDiCo cohorts are involved in 10 European Reference Networks and in the RD-European Joint Program. Sustainability is based on academic resources and several partnerships with industry. Conclusion: RaDiCo developed e-cohorts and industrialized the process that enables including new RD cohorts either national or international.