Exploring national support mechanisms for European reference network centres

European Journal of Medical Genetics, vol. 83, pp. 105099

Abstract

Integrating European Reference Networks (ERNs) into national health systems is crucial for rare disease care but remains challenging due to inconsistent support structures across countries. This study used a 2024-2025 multi-stakeholder survey of ERN clinical centre leads, hospital administrators, and national health authorities (JARDIN Joint Action, Work Package 9) to evaluate national support for ERN centres across six domains: staffing, education, formal recognition, funding, quality assurance, and strategic planning. Survey results revealed inconsistent national legal frameworks for recognizing ERN centres, major staffing deficits, and limited dedicated funding for ERN activities. Strategic planning for rare disease networks was often lacking, and institutional support for ERN-related quality assurance and continuing education remained low. Notably, ERN membership was associated with increased educational activities for health professionals, but these initiatives often lacked sustainability due to insufficient protected time and resources. Overall, the findings highlight that embedding ERNs into national health systems will require formal recognition of ERN centres in policy, consistent funding, stronger institutional backing, and structured support mechanisms to address workforce and quality gaps, ensuring long-term sustainability of this collaborative rare disease network.

Authors 9

1. Vojtěch Šimka

   Charles University · General University Hospital in Prague

   Affiliation as printed

   Centre for Paediatric Rheumatology and Autoinflammatory Diseases ERN-RITA, Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic

2. Jana Jedličková

   Charles University · General University Hospital in Prague

   Affiliation as printed

   Centre for Paediatric Rheumatology and Autoinflammatory Diseases ERN-RITA, Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic

3. Nela Navrátilová

   Charles University · General University Hospital in Prague

   Affiliation as printed

   Centre for Paediatric Rheumatology and Autoinflammatory Diseases ERN-RITA, Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic

4. Ondřej Hynek

   Charles University · General University Hospital in Prague

   Affiliation as printed

   Centre for Paediatric Rheumatology and Autoinflammatory Diseases ERN-RITA, Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic

5. Valentina Sand

   Heidelberg University

   Affiliation as printed

   Centre for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany

6. Mari Murel

   Amsterdam University Medical Centers · University of Amsterdam

   Affiliation as printed

   Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

7. Alberto M. Pereira Aachen

   Amsterdam University Medical Centers · Endo-ERN · University of Amsterdam

   Affiliation as printed

   Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

8. Pavla Doležalová corresponding

   Charles University · General University Hospital in Prague

   Affiliation as printed

   Centre for Paediatric Rheumatology and Autoinflammatory Diseases ERN-RITA, Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic. Electronic address: pavla.dolezalova@vfn.cz

9. Franz S. Schaefer corresponding

   Heidelberg University

   Affiliation as printed

   Centre for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany. Electronic address: franz.schaefer@med.uni-heidelberg.de