Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

Orphanet Journal of Rare Diseases

Position Statement

Anne R. Pariser¹  Elin Haf Davies²  Maureen Smith³  Harumasa Nakamura⁴  Kim G. Nielsen⁵  Rima Nabbout⁶  Stephen Groft⁷  Isabella Brambilla⁸  Thomas Klopstock⁹  Jose Carlos Pastor^1,10  Daria Julkowska^1,11  Galliano Zanello^1,11  Yeonju Kim^1,12  Dixie Baker^1,13  Domenica Taruscio^1,14  Orion J. Buske^1,15  Maurizio Scarpa^1,16  Laurie S. Conklin^1,17  Lora Black^1,18 

[1] Alltrna, Cambridge, MA, USA;Aparito Limited, Metabolic Support UK, Wrexham, UK;Canadian Organization for Rare Disorders, Toronto, ON, Canada;Department of Clinical Research Support, Clinical Research and Education Promotion Division, National Center of Neurology and Psychiatry, Tokyo, Japan;Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark;Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, member of ERN EPICARE, Institut Imagine, INSERM U1163, Université Paris Cité, Paris, France;Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA;Dravet Italia Onlus Italy – ePAG EpiCARE, Verone, Italy;Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, Ludwig-Maximilians-Universität München, Ziemssenstr. 1, 80336, Munich, Germany;IOBA (Eye Institute), University of Valladolid, Valladolid, Spain;Institut National de la Santé et de la Recherche Médicale, Paris, France;Korea Disease Control and Prevention Agency, Cheongju-si, Chungcheongbuj-do, Korea;Martin, Blanck, and Associates, Arlington, VA, USA;National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy;PhenoTips, Toronto, ON, Canada;Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy;European Reference Network. For Hereditary Metabolic Diseases (MetabERN), Dublin, Ireland;ReveraGen BioPharma, Rockville, MD, USA;Sanford Research, Sioux Falls, SD, USA;

关键词: Rare diseases;    Clinical research networks;    Interoperability;    Patient unmet needs;    Diagnosis;    Therapies;    IRDiRC;   

DOI  :  10.1186/s13023-023-02650-4

 received in 2022-08-01, accepted in 2023-02-27,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundMany patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous efforts of the research community, biopharmaceutical, medical device industries, and patient support groups. The development of clinical research networks for rare diseases offers a tremendous opportunity for patients and multi-disciplinary teams to collaborate, share expertise, gain better understanding on specific rare diseases, and accelerate clinical research and innovation. Clinical Research Networks have been developed at a national or continental level, but global collaborative efforts to connect them are still lacking. The International Rare Diseases Research Consortium set a Task Force on Clinical Research Networks for Rare Diseases with the objective to analyse the structure and attributes of these networks and to identify the barriers and needs preventing their international collaboration. The Task Force created a survey and sent it to pre-identified clinical research networks located worldwide.ResultsA total of 34 responses were received. The survey analysis demonstrated that clinical research networks are diverse in their membership composition and emphasize community partnerships including patient groups, health care providers and researchers. The sustainability of the networks is mostly supported by public funding. Activities and research carried out at the networks span the research continuum from basic to clinical to translational research studies. Key elements and infrastructures conducive to collaboration are well adopted by the networks, but barriers to international interoperability are clearly identified. These hurdles can be grouped into five categories: funding limitation; lack of harmonization in regulatory and contracting process; need for common tools and data standards; need for a governance framework and coordination structures; and lack of awareness and robust interactions between networks.ConclusionsThrough this analysis, the Task Force identified key elements that should support both developing and established clinical research networks for rare diseases in implementing the appropriate structures to achieve international interoperability worldwide. A global roadmap of actions and a specific research agenda, as suggested by this group, provides a platform to identify common goals between these networks.

【 授权许可】

CC BY   
© The Author(s) 2023

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