Research activity and capability in the European reference network MetabERN

Jean Michel Heard, Cinzia Bellettato, Corine Van Lingen, Maurizio Scarpa, François Guillaume Debray, Marie Cécile 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

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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 (US)
Article number119
JournalOrphanet Journal of Rare Diseases
Volume14
Issue number1
DOIs
StatePublished - May 29 2019

Fingerprint

Research
Inborn Genetic Diseases
Social Sciences
Metabolic Diseases
Human Activities
Patient Advocacy
Patient Participation
Molecular Epidemiology
Constitution and Bylaws
Patient Rights
European Union
Surveys and Questionnaires
Social Support
Registries
Biomedical Research
Motivation
Patient Care
Quality of Life
Delivery of Health Care
Education

Keywords

  • European reference Centres
  • Hereditary metabolic diseases
  • Medical research activity
  • Multidisciplinary research

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Heard, J. M., Bellettato, C., Van Lingen, C., Scarpa, M., Debray, F. G., Nassogne, M. C., ... Hiwot, T. (2019). Research activity and capability in the European reference network MetabERN. Orphanet Journal of Rare Diseases, 14(1), [119]. https://doi.org/10.1186/s13023-019-1091-8

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

In: Orphanet Journal of Rare Diseases, Vol. 14, No. 1, 119, 29.05.2019.

Research output: Contribution to journalArticle

Heard, JM, Bellettato, C, Van Lingen, C, Scarpa, M, Debray, FG, Nassogne, MC, Van Coster, R, De Meirleir, L, Eyskens, F, Morava, E, Baric, I, Kozich, V, Lund, AM, Germain, D, Belmatoug, N, Guffon, N, Labrune, P, Gouya, L, De Lonlay, P, Schiff, M, Dobbelaere, D, Chabrol, B, Das, AM, Spiekerkoetter, U, Rutsch, F, Ploeckinger, U, Mohnike, K, Hahn, A, Kölker, S, Ullrich, K, Balogh, I, Bembi, B, Donati, MA, Gasperini, S, Parenti, G, Salviati, A, Vici, CD, Di Rocco, M, Cefalo, G, Burlina, A, Ceccarini, G, Federico, A, Van Der Ploeg, A, Rubio-Gozalbo, ME, Van Spronsen, F, Visser, G, Bosch, A, Tangeraas, T, Sanderberg, S, Kieć-Wilk, B, Gaspar, AMSM, Martins, E, Silva, EMFR, De Abreu Freire Diogo Matos, LM, Azevedo, O, Tansek, MZ, Couce-Pico, ML, Cazorla, AG, Azuara, LAE, Del Toro-Riera, M, Lajic, S, Darin, N, Deegan, P, Vijaym, S, Chronopoulou, E, Jones, S, Chakrapani, A & Hiwot, T 2019, 'Research activity and capability in the European reference network MetabERN', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 119. https://doi.org/10.1186/s13023-019-1091-8
Heard JM, Bellettato C, Van Lingen C, Scarpa M, Debray FG, Nassogne MC et al. Research activity and capability in the European reference network MetabERN. Orphanet Journal of Rare Diseases. 2019 May 29;14(1). 119. https://doi.org/10.1186/s13023-019-1091-8
Heard, Jean Michel ; Bellettato, Cinzia ; Van Lingen, Corine ; Scarpa, Maurizio ; Debray, François Guillaume ; Nassogne, Marie Cécile ; Van Coster, Rudy ; De Meirleir, Linda ; Eyskens, François ; Morava, Eva ; Baric, Ivo ; Kozich, Viktor ; Lund, Allan Meldgaard ; Germain, Dominique ; Belmatoug, Nadia ; Guffon, Nathalie ; Labrune, Philippe ; Gouya, Laurent ; De Lonlay, Pascale ; Schiff, Manuel ; Dobbelaere, Dries ; Chabrol, Brigitte ; Das, Anihb Martin ; Spiekerkoetter, Ute ; Rutsch, Frank ; Ploeckinger, Ursula ; Mohnike, Klaus ; Hahn, Andreas ; Kölker, Stefan ; Ullrich, Kurt ; Balogh, István ; Bembi, Bruno ; Donati, Maria Alice ; Gasperini, Serena ; Parenti, Giancarlo ; Salviati, Alessandro ; Vici, Carlo Dionisi ; Di Rocco, Maja ; Cefalo, Graziella ; Burlina, Alberto ; Ceccarini, Giovanni ; Federico, Antonio ; Van Der Ploeg, Ans ; Rubio-Gozalbo, Maria Estela ; Van Spronsen, Francian ; Visser, Gepke ; Bosch, Annet ; Tangeraas, Trine ; Sanderberg, Sverre ; Kieć-Wilk, Beata ; Gaspar, Ana Maria Simões Mendes ; Martins, Esmeralda ; Silva, Esmeralda Maria Ferreira Rodrigues ; De Abreu Freire Diogo Matos, Luísa Maria ; Azevedo, Olga ; Tansek, Mojca Zerjav ; Couce-Pico, Maria Luz ; Cazorla, Angeles Garcia ; Azuara, Luis Aldámiz Echevarría ; Del Toro-Riera, Mireia ; Lajic, Svetlana ; Darin, Niklas ; Deegan, Patrick ; Vijaym, Suresh ; Chronopoulou, Efstathia ; Jones, Simon ; Chakrapani, Anupanm ; Hiwot, Tarekegn. / Research activity and capability in the European reference network MetabERN. In: Orphanet Journal of Rare Diseases. 2019 ; Vol. 14, No. 1.
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abstract = "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.",
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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

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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