Research activity and capability in the European reference network MetabERN

Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, François-Guillaume Debray, Marie-C. cile Nassogne, Rudy van Coster, Linda de Meirleir, François Eyskens, Eva Morava, Ivo Baric, Viktor Kozich, Allan Meldgaard Lund, Dominique Germain, Nadia Belmatoug, Nathalie Guffon, Philippe Labrune, Laurent Gouya, Pascale de Lonlay, Manuel SchiffDries Dobbelaere, Brigitte Chabrol, Anihb Martin Das, Ute Spiekerkoetter, Frank Rutsch, Ursula Ploeckinger, Klaus Mohnike, Andreas Hahn, Stefan Kölker, Kurt Ullrich, István Balogh, Bruno Bembi, Maria Alice Donati, Serena Gasperini, Giancarlo Parenti, Alessandro Salviati, Carlo-Dionisi Vici, Maja di Rocco, Graziella Cefalo, Alberto Burlina, Giovanni Ceccarini, Antonio Federico, Ans van der Ploeg, Maria-Estela Rubio-Gozalbo, Francian van Spronsen, Gepke Visser, Annet Bosch, Trine Tangeraas, Sverre Sanderberg, Beata Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Esmeralda Martins, Esmeralda-Maria Ferreira Rodrigues Silva, Luísa-Maria de Abreu Freire Diogo Matos, Olga Azevedo, Mojca-Zerjav Tansek, Maria-Luz Couce-Pico, Angeles Garcia Cazorla, Luis Aldámiz-Echevarría Azuara, Mireia del Toro-Riera, Svetlana Lajic, Niklas Darin, Patrick Deegan, Suresh Vijaym, Efstathia Chronopoulou, Simon Jones, Anupanm Chakrapani, Tarekegn Hiwot

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Background: MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient's rights in cross border healthcare. MetabERN associates 69 centres in 18 countries, which provide care for patients with Hereditary Metabolic Diseases, and have the mission to reinforce research and provide training for health professionals in this field. MetabERN performed a survey in December 2017 with the aim to produce an overview documenting research activities and potentials within the network. As the centres are multidisciplinary, separated questionnaires were sent to the clinical, university and laboratory teams. Answers were received from 52 out of the 69 centres of the network, covering 16 countries. A descriptive analysis of the information collected is presented. Results: The answers indicate a marked interest of the respondents for research, who expressed high motivation and commitment, and estimated that the conditions to do research in their institution were mostly satisfactory. They are active in research, which according to several indicators, is competitive and satisfies standards of excellence, as well as the education programs offered in the respondent's universities. Research in the centres is primarily performed in genetics, pathophysiology, and epidemiology, and focuses on issues related to diagnosis. Few respondents declared having activity in human and social sciences, including research on patient's quality of life, patient's awareness, or methods for social support. Infrastructures offering services for medical research were rarely known and used by respondents, including national and international biobanking platforms. In contrast, respondents often participate to patient registries, even beyond their specific field of interest. Conclusions: Taken as a whole, these results provide an encouraging picture of the research capacities and activities in the MetabERN network, which, with respect to the number and representativeness of the investigated centres, gives a comprehensive picture of research on Hereditary Metabolic Diseases in Europe, as well as the priorities for future actions. Marginal activity in human and social sciences points out the limited multidisciplinary constitution of the responding teams with possible consequences on their current capability to participate to patient's empowerment programs and efficiently collaborate with patient's advocacy groups.
Original languageEnglish
Article number119
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 29 May 2019

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