Inclusion and participation of people living with a rare disease in French National Plans

The field of rare disease is a remarkable one, in which the supply of care, the generation of knowledge and resulting positive outcomes for patients take the form of a virtuous circle. The first French National Plan for rare diseases in 2004 encouraged patient associations, healthcare players, researchers and policy makers to come together and liaise more closely.

The first two plans led to major advances: they contributed to boosting our expertise in the areas of treatments and research; they helped a clear patient pathway to be defined, taking into account the patient, their GP as well as centres of expertise (competence centres (CCMR in French); reference centers (CRMR in French)); and for the more complex cases, they facilitated access to the ERNs:

Competence centres, reference centres and clinical networks are now the basis of an organisational structure that ensures access to care and expertise for all. This structure has also enabled the gathering of clinical and biological data that are essential for treatment, prevention and research.

To reduce diagnostic delays and the cases of undiagnosed disease, the rare disease reference centres (CRMRs) system was restructured in 2017. The 2017-2022 labelling process was conducted for the 23 national rare disease clinical networks (Filières de santé maladies rares, FSMRs): 109 CRMRs have been created, composed of 387 reference centres, 1,757 competence centres and 83 resource and competence centres (CRCs, Amyotrophic lateral sclerosis, Cystic Fibrosis, rare haemorrhagic diseases). In this respect, the national rare disease clinical networks (FSMRs) set up in 2014 play a particularly important role in relation to the European reference networks (ERNs). This was recognised by the European Commission in March 2017. As a result, the FSMRs are set to form the organisational bedrock of the PNMR3 and have been identified as driving forces for research and innovation.

The third plan, launched on 4 July 2018, is the result of the combined efforts of stakeholders committed to promoting an ambitious health and research policy designed to help patients with rare diseases and their families.

The aims of the third French National Plan for rare diseases: sharing innovation, a diagnosis and a treatment for all, a call for action

In line with the vision of the International Rare Diseases Research Consortium (IRDiRC), a consortium of nearly 50 funding and patient organizations in 20 countries that has the ultimate goal of improving diagnosis and therapy for patients affected by rare diseases, the third plan aims to ensure that all people living with a rare disease receive an accurate diagnosis, as well as appropriate care and treatment within one year from their first specialised medical consultation. The only exception to this should be patients for whom current scientific and technical knowledge does not enable an accurate diagnosis to be made.

The plan also reflects an ambition to significantly improve the care of patients with rare diseases in French overseas regions.

This plan was developed in line with the objectives of the current French national health strategy and various ongoing public health policies, such as the France Genomic Medicine 2025 plan, the national Health strategy “Ma Santé 2022”, the rare disabilities scheme and taking into account the ongoing revision of the law on bioethics.