EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

"Declarations Ethics approval and consent to participateThere is no patient data at this stage. The ethical and legal advisory team, represented in this paper by Laura Blacas and Carla D’Angelo, dealt with ethical and legal issues of the Registry. Recruitment will start after all the requirements have been met. Consent for publicationAll authors reviewed the manuscript and consented to its publication. Competing interestsAdrian Tassoni, Antonio Atalaia, Carla D’Angelo, Catherine Eng, Dagmar Wandrei, Dalil Hamroun, Dimitrios Athanasiou, Elizabeth Vroom, Esther Brusse, Evy Reviers, François Lamy, Georgios Paliouras, Hadrien Delattre, Jean-Philippe Plançon, Laura Blacas, Maxime Jacoupy, Michelangelo Mancuso, Nawel Lalout, Paraskevi Sakellariou, Peter-Bram ’t Hoen, Rachel Thompson, Rita Horvath, Suzie-Ann Baker, Teresinha Evangelista declared no conflicts of interest. Antonio Toscano: Reimbursements for participation to scientific boards and for educational activities from Sanofi Genzyme, Amicus, Astellas, Bayer, Aro and Spark. Carmen Paradas: Advisory Board honoraria from UCB, Alexion, Sanofi-Genzyme. Cornelia Kornblum: Travel funding and/or speaker honoraria from Chiesi, Amicus Therapeutics, Fulcrum Therapeutics, Novartis, Sanofi Genzyme, Santhera and acknowledges financial support as advisory board member and/or primary investigator for Amicus Therapeutics, Fulcrum Therapeutics, Hormosan, Reneo Pharmaceuticals, Roche Pharma AG, Sanofi Genzyme, Stealth BioTherapeutics. Davide Pareyson: Financial support from Alnylam and Kedrion for participation in international meetings, participation in Advisory Boards of Inflectis, Alnylam, Akcea, Arvinas, Augustine Tx, DTx, speaker honorarium from Alnylam. Guillaume Bassez: Research funding from AFM-Telethon and compensation for consulting services and/or speaking activities from Biogen, Dyne therapeutics, Lupin Pharmaceutical. Hanns Lochmuller: Support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950–232279). Jana Haberlova: Honoraria as a advisory board members or speaker for Roche,Novartis, Biogen, PTC. Janbernd Kirschner: Consultancy and/or speaker honoraria from Biogen, Novartis, Pfizer and Roche and research grants from Biogen, Novartis, Roche. Janneke G. J. Hoeijmakers: Grants from the Prinses Beatrix Spierfonds (W.OK17-09 and W.TR22-01). Kristl G. Claeys: Speaker/Advisory board honoraria from Alexion, Alnylam, Amicus, ArgenX, Biogen, CSL Behring, Ipsen, Janssen Pharmaceutics, Lupin, Pfizer, Roche, Sanofi-Genzyme, UCB; and Research funding from CSL Behring (Chair), Alnylam, Biogen, Pfizer, Roche, Sanofi-Genzyme. Marianne de Visser: Consultancy honoraria from Novartis and Argenx. Mark D Wilkinson: Co-Founder of FAIR Data Systems S.L., Madrid, who were contracted to do some portions of the work with several of the registries described in this paper. Melinda Gyenge: Research funding from AFM-Telethon. Nadine van der Beek: Advisory boards of Sanofi, and Amicus Therapeutics. She received speaker honoraria Sanofi. Vincenzo Silani: Compensation for consulting services and/or speaking activities from AveXis, Cytokinetics, Italfarmaco, Liquidweb S.r.l., Novartis Pharma AG and Zambon. He receives or has received research supports form the Italian Ministry of Health, AriSLA, and E-Rare Joint Transnational Call. He is in the Editorial Board of Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, European Neurology, American Journal of Neurodegenerative Diseases, Frontiers in Neurology, and Exploration of Neuroprotective Therapy. Competing interests Adrian Tassoni, Antonio Atalaia, Carla D’Angelo, Catherine Eng, Dagmar Wandrei, Dalil Hamroun, Dimitrios Athanasiou, Elizabeth Vroom, Esther Brusse, Evy Reviers, François Lamy, Georgios Paliouras, Hadrien Delattre, Jean-Philippe Plançon, Laura Blacas, Maxime Jacoupy, Michelangelo Mancuso, Nawel Lalout, Paraskevi Sakellariou, Peter-Bram ’t Hoen, Rachel Thompson, Rita Horvath, Suzie-Ann Baker, Teresinha Evangelista declared no conflicts of interest. Antonio Toscano: Reimbursements for participation to scientific boards and for educational activities from Sanofi Genzyme, Amicus, Astellas, Bayer, Aro and Spark. Carmen Paradas: Advisory Board honoraria from UCB, Alexion, Sanofi-Genzyme. Cornelia Kornblum: Travel funding and/or speaker honoraria from Chiesi, Amicus Therapeutics, Fulcrum Therapeutics, Novartis, Sanofi Genzyme, Santhera and acknowledges financial support as advisory board member and/or primary investigator for Amicus Therapeutics, Fulcrum Therapeutics, Hormosan, Reneo Pharmaceuticals, Roche Pharma AG, Sanofi Genzyme, Stealth BioTherapeutics. Davide Pareyson: Financial support from Alnylam and Kedrion for participation in international meetings, participation in Advisory Boards of Inflectis, Alnylam, Akcea, Arvinas, Augustine Tx, DTx, speaker honorarium from Alnylam. Guillaume Bassez: Research funding from AFM-Telethon and compensation for consulting services and/or speaking activities from Biogen, Dyne therapeutics, Lupin Pharmaceutical. Hanns Lochmuller: Support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950–232279). Jana Haberlova: Honoraria as a advisory board members or speaker for Roche,Novartis, Biogen, PTC. Janbernd Kirschner: Consultancy and/or speaker honoraria from Biogen, Novartis, Pfizer and Roche and research grants from Biogen, Novartis, Roche. Janneke G. J. Hoeijmakers: Grants from the Prinses Beatrix Spierfonds (W.OK17-09 and W.TR22-01). Kristl G. Claeys: Speaker/Advisory board honoraria from Alexion, Alnylam, Amicus, ArgenX, Biogen, CSL Behring, Ipsen, Janssen Pharmaceutics, Lupin, Pfizer, Roche, Sanofi-Genzyme, UCB; and Research funding from CSL Behring (Chair), Alnylam, Biogen, Pfizer, Roche, Sanofi-Genzyme. Marianne de Visser: Consultancy honoraria from Novartis and Argenx. Mark D Wilkinson: Co-Founder of FAIR Data Systems S.L., Madrid, who were contracted to do some portions of the work with several of the registries described in this paper. Melinda Gyenge: Research funding from AFM-Telethon. Nadine van der Beek: Advisory boards of Sanofi, and Amicus Therapeutics. She received speaker honoraria Sanofi. Vincenzo Silani: Compensation for consulting services and/or speaking activities from AveXis, Cytokinetics, Italfarmaco, Liquidweb S.r.l., Novartis Pharma AG and Zambon. He receives or has received research supports form the Italian Ministry of Health, AriSLA, and E-Rare Joint Transnational Call. He is in the Editorial Board of Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, European Neurology, American Journal of Neurodegenerative Diseases, Frontiers in Neurology, and Exploration of Neuroprotective Therapy."

"Funding This project was co-funded by the European Union’s 3rd EU Health Programme; Grant Agreement: 947598; EURO-NMD Registry—HP-PJ-2019. Total EU funding: 200,000€. Total Patients Organisations in kind contribution: 274,641.20€."