Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

Mancuso, Michelangelo; Lopriore, Piervito; Lamperti, Costanza; Klopstock, Thomas; Rahman, Shamima; Licchetta, Laura; Kornblum, Cornelia; Wortmann, Saskia B.; Dollfus, Helene; Papadopoulou, Maria T.; Arzimanoglou, Alexis; Scarpa, Maurizio; Graessner, Holm und Evangelista, Teresinha (2024): Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. In: Journal of Neurology, Bd. 271, Nr. 2: S. 835-840

Abstract

Background and purposePrimary mitochondrial diseases (PMDs) are rare diseases for which diagnosis is challenging, and management and training programs are not well defined in Europe. To capture and assess care needs, five different European Reference Networks have conducted an exploratory survey.MethodsThe survey covering multiple topics relating to PMDs was sent to all ERNs healthcare providers (HCPs) in Europe.ResultsWe have collected answers from 220 members based in 24/27 European member states and seven non-European member states. Even though most of the responders are aware of neurogenetic diseases, difficulties arise in the ability to deliver comprehensive genetic testing. While single gene analysis is widely available in Europe, whole exome and genome sequencing are not easily accessible, with considerable variation between countries and average waiting time for results frequently above 6 months. Only 12.7% of responders were happy with the ICD-10 codes for classifying patients with PMDs discharged from the hospital, and more than 70% of them consider that PMDs deserve specific ICD codes to improve clinical management, including tailored healthcare, and for reimbursement reasons. Finally, 90% of responders declared that there is a need for further education and training in these diseases.ConclusionsThis survey provides information on the current difficulties in the care of PMDs in Europe. We believe that the results of this survey are important to help rare disease stakeholders in European countries identify key care and research priorities.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin > Munich Cluster for Systems Neurology (SyNergy)
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• Sprache: Englisch
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198