TY - JOUR
T1 - Research activity and capability in the European reference network MetabERN
AU - Heard, Jean Michel
AU - Bellettato, Cinzia
AU - Van Lingen, Corine
AU - Scarpa, Maurizio
AU - Debray, François Guillaume
AU - Nassogne, Marie Cécile
AU - Van Coster, Rudy
AU - De Meirleir, Linda
AU - Eyskens, François
AU - Morava, Eva
AU - Baric, Ivo
AU - Kozich, Viktor
AU - Lund, Allan Meldgaard
AU - Germain, Dominique
AU - Belmatoug, Nadia
AU - Guffon, Nathalie
AU - Labrune, Philippe
AU - Gouya, Laurent
AU - De Lonlay, Pascale
AU - Schiff, Manuel
AU - Dobbelaere, Dries
AU - Chabrol, Brigitte
AU - Das, Anihb Martin
AU - Spiekerkoetter, Ute
AU - Rutsch, Frank
AU - Ploeckinger, Ursula
AU - Mohnike, Klaus
AU - Hahn, Andreas
AU - Kölker, Stefan
AU - Ullrich, Kurt
AU - Balogh, István
AU - Bembi, Bruno
AU - Donati, Maria Alice
AU - Gasperini, Serena
AU - Parenti, Giancarlo
AU - Salviati, Alessandro
AU - Vici, Carlo Dionisi
AU - Di Rocco, Maja
AU - Cefalo, Graziella
AU - Burlina, Alberto
AU - Ceccarini, Giovanni
AU - Federico, Antonio
AU - Van Der Ploeg, Ans
AU - Rubio-Gozalbo, Maria Estela
AU - Van Spronsen, Francian
AU - Visser, Gepke
AU - Bosch, Annet
AU - Tangeraas, Trine
AU - Sanderberg, Sverre
AU - Kieć-Wilk, Beata
AU - Gaspar, Ana Maria Simões Mendes
AU - Martins, Esmeralda
AU - Silva, Esmeralda Maria Ferreira Rodrigues
AU - De Abreu Freire Diogo Matos, Luísa Maria
AU - Azevedo, Olga
AU - Tansek, Mojca Zerjav
AU - Couce-Pico, Maria Luz
AU - Cazorla, Angeles Garcia
AU - Azuara, Luis Aldámiz Echevarría
AU - Del Toro-Riera, Mireia
AU - Lajic, Svetlana
AU - Darin, Niklas
AU - Deegan, Patrick
AU - Vijaym, Suresh
AU - Chronopoulou, Efstathia
AU - Jones, Simon
AU - Chakrapani, Anupanm
AU - Hiwot, Tarekegn
N1 - Publisher Copyright:
© 2019 The Author(s).
PY - 2019/5/29
Y1 - 2019/5/29
N2 - 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.
AB - 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.
KW - European reference Centres
KW - Hereditary metabolic diseases
KW - Medical research activity
KW - Multidisciplinary research
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U2 - 10.1186/s13023-019-1091-8
DO - 10.1186/s13023-019-1091-8
M3 - Article
C2 - 31142374
AN - SCOPUS:85066922947
SN - 1750-1172
VL - 14
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 119
ER -