TY - JOUR
T1 - Current management of primary mitochondrial disorders in EU countries
T2 - the European Reference Networks survey
AU - Mancuso, Michelangelo
AU - Lopriore, Piervito
AU - Lamperti, Costanza
AU - Klopstock, Thomas
AU - Rahman, Shamima
AU - Licchetta, Laura
AU - Kornblum, Cornelia
AU - Wortmann, Saskia B
AU - Dollfus, Hélène
AU - Papadopoulou, Maria T
AU - Arzimanoglou, Alexis
AU - Scarpa, Maurizio
AU - Graessner, Holm
AU - Evangelista, Teresinha
N1 - Wortmann: University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria
PY - 2023/10/13
Y1 - 2023/10/13
N2 - BACKGROUND AND PURPOSE: Primary 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.METHODS: The survey covering multiple topics relating to PMDs was sent to all ERNs healthcare providers (HCPs) in Europe.RESULTS: We 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.CONCLUSIONS: This 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.
AB - BACKGROUND AND PURPOSE: Primary 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.METHODS: The survey covering multiple topics relating to PMDs was sent to all ERNs healthcare providers (HCPs) in Europe.RESULTS: We 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.CONCLUSIONS: This 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.
U2 - 10.1007/s00415-023-12017-1
DO - 10.1007/s00415-023-12017-1
M3 - Original Article (Journal)
C2 - 37831128
SN - 0340-5354
JO - JOURNAL OF NEUROLOGY
JF - JOURNAL OF NEUROLOGY
ER -