학술논문
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Document Type
Academic Journal
Author
Nabbout R; 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. rima.nabbout@aphp.fr.; Zanello G; Institut National de la Santé et de la Recherche Médicale, Paris, France.; Baker D; Martin, Blanck, and Associates, Arlington, VA, USA.; Black L; Sanford Research, Sioux Falls, SD, USA.; Brambilla I; Dravet Italia Onlus Italy - ePAG EpiCARE, Verone, Italy.; Buske OJ; PhenoTips, Toronto, ON, Canada.; Conklin LS; ReveraGen BioPharma, Rockville, MD, USA.; Davies EH; Aparito Limited, Metabolic Support UK, Wrexham, UK.; Julkowska D; Institut National de la Santé et de la Recherche Médicale, Paris, France.; Kim Y; Korea Disease Control and Prevention Agency, Cheongju-si, Chungcheongbuj-do, Korea.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, Ludwig-Maximilians-Universität München, Ziemssenstr. 1, 80336, Munich, Germany.; Nakamura H; Department of Clinical Research Support, Clinical Research and Education Promotion Division, National Center of Neurology and Psychiatry, Tokyo, Japan.; Nielsen KG; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Pariser AR; Alltrna, Cambridge, MA, USA.; Pastor JC; IOBA (Eye Institute), University of Valladolid, Valladolid, Spain.; Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; European Reference Network. For Hereditary Metabolic Diseases (MetabERN), Dublin, Ireland.; Smith M; Canadian Organization for Rare Disorders, Toronto, ON, Canada.; Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Groft S; Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Source
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Subject
Language
English
Abstract
Background: Many 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.
Results: A 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.
Conclusions: Through 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.
(© 2023. The Author(s).)
Results: A 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.
Conclusions: Through 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.
(© 2023. The Author(s).)