top of page

Preparing the Future of Therapeutic and Social Innovation: The Initiative of Patient Organizations

“En route to the Fourth National Plan for Rare Diseases” was the theme of the 3rd Congress of the French Alliance for Rare Diseases (AMR), which took place on June 10 and 11, 2022. France was a pioneer in Europe, launching the first National Plan for Rare Diseases in 2005 (PNMR1 -2005-2008), followed by two further plans, PNRM2 2011-2016 and PNMR3-2018-2022. There is currently no sign that the government will approve the implementation of a fourth plan. In fact, the extension of the third plan by one year, until 2023, was decided a few weeks ago.

However, patient organizations and their national and European coalitions are already at work, using a modality of action they initiated in the late 1980s which was designed initially to weigh the orientations of research on rare diseases (Rabeharisoa & Callon, 2002). This modality is widely identified as patient organizations setting themselves up as partners of the other stakeholders. These organizations organize a dialogue with specialists on the orientations of policies to be developed, and contribute actively to the production and dissemination of knowledge on the diseases they are advocating for.

It is likely, as was the case for the elaboration of the three previous plans, that the elaboration of a possible fourth plan will follow a protocol involving, what is now called, the "rare disease community", a community that brings together all interested parties, from patient organizations to ministries, state agencies, health and research professionals, and the pharmaceutical-biotech industry.

At the congress, a series of thematic workshops invited this group of actors to discuss the future. The congress is part of a continuing dialogue within this community, and includes themes discussed in other forums (e.g., the Rencontres RARE congress organized by the Fondation Maladies Rares). However, by setting the discussions in the perspective of a fourth plan, the main issue for the French Alliance for Rare Diseases was to keep rare diseases on the political agenda.

One of the three political challenges put forward at the congress - along with diagnostic wandering and "life-course ruptures" - due to the child-adult transition of the patient - is "treatment wandering". By treatment wandering, Marie-Pierre Bichet, president of the AMR, means wandering linked to the fact that data on rare diseases is scarce and that only 5% of diseases benefit from a curative treatment (Carenews PRO, July 8, 2022). One of the workshops focused on this challenge was dedicated to "therapeutic or social innovation (health data, gene therapy, neonatal screening, telemedicine)".

The continuity of the policy and the actions undertaken were on the agenda of the discussions: "if the first three PNMR have created a territorial network of research and care, supported by essential tools (diagnostic observatory, treatment observatory, BNDMR [national database on rare diseases], PNDS [national protocols for diagnosis and care], ETP [therapeutic patient education], rare disease companions, etc.), numerous challenges remain to be taken up (among which is the increase in the use of these tools, and even their improvement)." (Orphanews France, June 23, 2022).

Three key discussion points on the policies and strategies to be developed to advance rare disease treatments are of interest from the perspective of the application of social pharmaceutical innovation.

  1. The first point was the role and place of patient organizations in treatment advocacy. According to Marie-Pierre Bichet, "Associations play an essential role in the drug pathway. They must be involved in the reflection on the protocol and the implementation of the clinical trial. They can also be involved in data collection, the quality of life of patients and treatments. These are all subjects to be worked on for the 4th national plan that we are calling for" (Carenews PRO, July 8, 2022).

  2. The second point called for joint action at the European level on the evaluation of gene therapy.

  3. Finally, the third point emphasized the need to redefine business models for ultra-rare diseases.



(June 23, 2022) L’éditorial. Retour sur le congrès 2022 de l’Alliance maladies rares. [Editorial. Overview of the 2022 Congress of the French Rare Disease Alliance]. Orphanews France - La newsletter d’Orphanet.

(July 8, 2022). L’Alliance maladies rares lance un appel pour un 4e plan national [The French Rare Disease Alliance calls for a 4th national plan]. Carenews PRO.

Catalifaud Charlène (July 8, 2022). Entretien avec la présidente de l'Alliance maladies rares Marie-Pierre Bichet : « Pour les maladies rares, il faut promouvoir la culture du doute chez les généralistes ». [Interview with Marie-Pierre Bichet, Chair of the French Alliance for Rare Diseases]. Le Quotidien du médecin.

Rabeharisoa Vololona & Callon Michel (2002). L'engagement des associations de malades dans la recherche. Revue internationale des sciences sociales, 171: 65 à 73.

Photo credit: Salvatore Vastano , “Future”, Corso Giannone, Caserta, 2014. (CC BY-ND 2.0)


Written by: Florence Paterson

26 views0 comments


bottom of page