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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2023

Open Access 01-12-2023 | Position statement

Together4RD position statement on collaboration between European reference networks and industry

Authors: Victoria Hedley, Matt Bolz-Johnson, Ines Hernando, Rosalind Kenward, Rima Nabbout, Clara Romero, Franz Schaefer, Sheela Upadhyaya, Together4RD Steering Group

Published in: Orphanet Journal of Rare Diseases | Issue 1/2023

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Abstract

Notwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5–6% of rare diseases have dedicated treatments. Given with the huge number of conditions classed as rare (which is increasing all the time), this equates to major unmet need for patients (over 30 million in the EU alone). Worryingly, the pace of Research and Innovation in Europe is lagging behind other regions of the world, and a seismic shift in the way in which research is planned and delivered is required, in order to remain competitive and—most importantly—bring meaningful, disease-altering treatments to those who desperately need them. The European Reference Networks (ERNs), launched in 2017, hold major potential to alleviate many of these challenges, and more, but only if adequately supported (financially, technically, and via robust policies and infrastructure) to realise that potential: and even then, only if able to forge robust collaborations harnessing the expertise, resources, knowledge and data of all stakeholders involved in rare disease, including Industry. To-date, however, ERN-Industry interactions have been largely limited, for a range of reasons (concerning barriers both tangible and perceived). This Position Statement analyses these barriers, and explains how Together4RD is seeking to move the needle here, by learning from case studies, exploring frameworks for collaboration, and launching pilots to explore how best to plan and deliver multistakeholder interactions addressing real research needs.
Appendix
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Footnotes
1
For example, the #30 million reasons campaign, led by EURORDIS, emerged out of Rare 2030 to target the French, Czech Republic and Swedish trio of EU Presidencies in an effort to place rare diseases -and specifically, the outputs of Rare 2030- firmly on the European agenda (perhaps eventually by adoption of a new Commission Communication, Council Recommendation, or an Action Plan, such as has been deployed in the cancer field).
 
2
Evidenced for instance by the evolution of IRDiRC (the International Rare Disease Research Consortium), the adoption of a UN Resolution on Rare Disease in late 2021, and the WHO signing a MoU with Rare Diseases International to scope a Global Network for Rare Disease.
 
3
In its position paper on mature ERNs [24]. EURORDIS. Recommendations to Achieve a Mature ERN System in 2030. 2020. Page 33], EURORDIS has called for all ERNs to issue step-wise expansion roadmaps to ensure that networks move away from an initial focus on merely a subset of conditions.
 
4
That being said, the approach of the BoMS statement may be a little too black and white here: there are examples of Companies playing no role in the development of CPGs or Clinical Decisions Support Tools but post-publication funding their translation into different languages and/or their development into accompanying layperson summaries, support the running of workshops and masterclasses for greater implementation of the practices, etc.
 
5
For example see [39].EORTC. EORTC Code of Ethical Conduct [cited 2023 22nd March 2023]. Available from: https://​www.​eortc.​org/​code-of-ethical-conduct/​.
 
6
For a full list of Steering Group members, visit the Together4RD website [42].Together4RD. What is Together4RD—Steering Group [Available from: https://​together4rd.​eu/​what-is-together4rd/​steering-group/​.
 
7
Sponsoring company for 2021–2022.
 
8
E.g. those espoused by the Rare 2030 Recommendations 7.Kole A, and Hedley, V,. Recommendations from the Rare 2030 Foresight Study: The future of rare diseases starts today. 2021., especially 105–6.
 
9
E.g. “Post-marketing surveillance for orphan therapies should be organised at the European level, through quality-assured shared data registration platforms/disease registries” page 117 of the Rare 2030 Recommendations.
 
10
It is notable that the question of whether or not ERNs should become legal entities was amongst the most polarising subjects addressed when generating the Rare 2030 recommendations concerning ERNs.
 
12
See See Part 1, section entitled ‘ERNs and the potential they offer’ and under Part 2, ‘What factors have limited ERN-led research ?’. Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, et al. European Reference Networks: challenges and opportunities. J Community Genet. 2021;12(2):217–29.
 
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Metadata
Title
Together4RD position statement on collaboration between European reference networks and industry
Authors
Victoria Hedley
Matt Bolz-Johnson
Ines Hernando
Rosalind Kenward
Rima Nabbout
Clara Romero
Franz Schaefer
Sheela Upadhyaya
Together4RD Steering Group
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2023
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-023-02853-9

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