Managing rare diseases: examples of national approaches in Europe, North America and East Asia

Lucas Cortial (1) , Catherine Nguyen (2) , Daria Julkowska (2) , Florence Cocqueel-Tiran (1) , Antoni Montserrat Moliner (3) , Olivier Blin (1) , Valérie Trentesaux (1)

1 TIMONE - Hôpital de la Timone [CHU - APHM]
2 INSERM - Institut National de la Santé et de la Recherche Médicale
3 Luxembourg National Committee for Rare Diseases

Around 4% of the global population suffers from a rare disease. Apart from the medical aspect, economic, organisational, and political approaches remain key aspects when it concerns the evolution of the world of rare diseases. We review here the principal specific national initiatives and organisations in Europe, North America and East Asia. Thereafter, we propose the outlines of a possible optimal approach, inspired by the successes of the individual national organisations. This work should be taken into account in the definition of large scale multi-national rare diseases programs, such as the European Joint Programme on Rare Diseases.

Domaines: Sciences du Vivant [q-bio]; Médecine humaine et pathologie

Lucas Cortial, Catherine Nguyen, Daria Julkowska, Florence Cocqueel-Tiran, Antoni Montserrat Moliner, et al.. Managing rare diseases: examples of national approaches in Europe, North America and East Asia. Rare Disease and Orphan Drugs Journal, 2022, 1 (2), pp.10. ⟨10.20517/rdodj.2022.02⟩. ⟨hal-03677915⟩