Journal Article

How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases

Kleinhout-Vliek, Tineke, Grunebaum, Shir, Moors, Ellen, Hagendijk, Rob, Douglas, Conor M. W., Boon, Wouter, Aith, Fernando, Oliveira, Claudio Cordovil, Rabeharisoa, Vololona

2025

Overview

Background The current organization of the pharmaceutical innovation system poses three major challenges for rare disease patients in terms of availability, accessibility and affordability of treatments. While some changes have emerged in the European Union to address some of these challenges, their impacts are not experienced uniformly across member states nor around the world. We have observed niche initiatives that are actively working to address those challenges within their local contexts. In a position paper in this journal, we characterized such initiatives as “social pharmaceutical innovation” (or SPIN): novel collaborations involving diverse sets of actors that break with conventional pharmaceutical innovation practices to develop interventions that address unmet societal needs of rare disease patients and that are not primarily market driven. Results Here we report on 15 cases of SPIN across Brazil, Canada, France and the Netherlands that we studied through semi-structured qualitative interviews ( n  = 151) with players involved in those cases. Our findings show how SPIN initiatives are reconfiguring pharmaceutical innovation networks to include a wider range of actors in redistributed and differentiated roles within innovation processes. Further, we find that SPINs are associated with changes in the ways data is gathered (often in clinical contexts rather than in conventional trials), and how evidence is assembled to improve access to the treatments. Finally, we demonstrate how SPINs are providing new routes for patients to access treatments for rare diseases, often at more affordable prices. Conclusions While promising, SPINs are not perfect solutions for rare disease patients or the broader challenges to the pharmaceutical innovation system. SPINs are specific solutions adapted to the particulars of local framing, institutions, national policy and care contexts of rare diseases, and should be developed as such. Our findings support these recommendations for SPIN: use local knowledge and expertise in crafting SPINs; develop comprehensive strategies for data governance, access and ownership; and explore new economic models to recoup investments and/or sustain future initiatives. We invite collaboration on these topics and emerging SPIN initiatives so as to support efforts at addressing challenges of availability, accessibility and affordability of treatments for rare diseases patients.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Biotechnology industry / Case studies / Clinical trials / Collaboration / Diagnosis / Drug discovery / Drug therapy / Economic aspects / Health aspects / Human Genetics / Humanities and Social Sciences / Innovations / Institutionalization / Medical innovations / Medical research / Medicine / Medicine & Public Health / Orphan drugs / Patient outcomes / Patients / Pharmaceutical industry / Pharmacology/Toxicology / Policy / Prices / Product development / Qualitative research / R&D / Rare diseases / Research & development / Research design / Social aspects / Social innovation / Social pharmaceutical innovation / Sustainable development / Therapeutic research and development