Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
consensus
epilepsy
management
mitochondrial diseases
recommendations
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
04 Apr 2024
04 Apr 2024
Historique:
revised:
27
02
2024
received:
31
10
2023
accepted:
28
02
2024
medline:
5
4
2024
pubmed:
5
4
2024
entrez:
5
4
2024
Statut:
aheadofprint
Résumé
Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature. The aim of this study was to develop guidelines and consensus recommendations on safe medication use and seizure management in mitochondrial epilepsy. A panel of 24 experts in mitochondrial medicine, pharmacology and epilepsy management of adults and/or children and two patient representatives from seven countries was established. Experts were members of five different European Reference Networks, known as the Mito InterERN Working Group. A Delphi technique was used to allow the panellists to consider draft recommendations on safe medication use and seizure management in mitochondrial epilepsy, using two rounds with predetermined levels of agreement. A high level of consensus was reached regarding the safety of 14 out of all 25 drugs reviewed, resulting in endorsement of National Institute for Health and Care Excellence guidelines for seizure management, with some modifications. Exceptions including valproic acid in POLG disease, vigabatrin in patients with γ-aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted. These consensus recommendations describe our intent to improve seizure control and reduce the risk of drug-related adverse events in individuals living with PMD-related epilepsy.
Sections du résumé
BACKGROUND AND PURPOSE
OBJECTIVE
Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature. The aim of this study was to develop guidelines and consensus recommendations on safe medication use and seizure management in mitochondrial epilepsy.
METHODS
METHODS
A panel of 24 experts in mitochondrial medicine, pharmacology and epilepsy management of adults and/or children and two patient representatives from seven countries was established. Experts were members of five different European Reference Networks, known as the Mito InterERN Working Group. A Delphi technique was used to allow the panellists to consider draft recommendations on safe medication use and seizure management in mitochondrial epilepsy, using two rounds with predetermined levels of agreement.
RESULTS
RESULTS
A high level of consensus was reached regarding the safety of 14 out of all 25 drugs reviewed, resulting in endorsement of National Institute for Health and Care Excellence guidelines for seizure management, with some modifications. Exceptions including valproic acid in POLG disease, vigabatrin in patients with γ-aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted.
CONCLUSIONS
CONCLUSIONS
These consensus recommendations describe our intent to improve seizure control and reduce the risk of drug-related adverse events in individuals living with PMD-related epilepsy.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e16275Subventions
Organisme : This project has received funding from the European Joint Programme on Rare Diseases (EJP RD). The EJP RD initiative has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement N°825575
Informations de copyright
© 2024 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.
Références
Ng YS, Bindoff LA, Gorman GS, et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021;20:573‐584.
Rahman S. Mitochondrial diseases and status epilepticus. Epilepsia. 2018;59(Suppl 2):70‐77.
Lopriore P, Gomes F, Montano V, Siciliano G, Mancuso M. Mitochondrial epilepsy, a challenge for neurologists. Int J Mol Sci. 2022;23:13216.
Bindoff LA, Engelsen BA. Mitochondrial diseases and epilepsy. Epilepsia. 2012;53(Suppl 4):92‐97.
Whittaker RG, Devine HE, Gorman GS, et al. Epilepsy in adults with mitochondrial disease: a cohort study. Ann Neurol. 2015;78:949‐957.
Guerrini R, Balestrini S, Wirrell EC, Walker MC. Monogenic epilepsies: disease mechanisms, clinical phenotypes, and targeted therapies. Neurology. 2021;97:817‐831.
Mancuso M, McFarland R, Klopstock T, Hirano M, consortium on Trial Readiness in Mitochondrial Myopathies. International workshop: outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy. Neuromuscul Disord. 2017;27:1126‐1137.
De Vries MC, Brown DA, Allen ME, et al. Safety of drug use in patients with a primary mitochondrial disease: an international Delphi‐based consensus. J Inherit Metab Dis. 2020;43:800‐818. doi:10.1002/jimd.12196
Koene S, van Bon L, Bertini E, et al. Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi‐based international workshop. J Inherit Metab Dis. 2018;41:1267‐1273.
Ng YS, Bindoff LA, Gorman GS, et al. Consensus‐based statements for the management of mitochondrial stroke‐like episodes. Wellcome Open Res. 2019;4:201.
Ebihara T, Nagatomo T, Sugiyama Y, et al. Neonatal‐onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Arch Dis Child Fetal Neonatal Ed. 2022;107:329‐334.
Pressler RM, Abend NS, Auvin S, et al. Treatment of seizures in the neonate: guidelines and consensus‐based recommendations—special report from the ILAE task force on neonatal seizures. Epilepsia. 2023;64:2550‐2570.
de Winter JCF, Dodou D. Five‐point Likert items: t test versus Mann–Whitney–Wilcoxon. Pract Assess Res Eval. 2010;15:1‐10.
Overview | Epilepsies in children, young people and adults | Guidance | NICE. 2022. https://www.nice.org.uk/guidance/ng217.
Minicucci F, Ferlisi M, Brigo F, et al. Management of status epilepticus in adults. Position paper of the Italian League Against Epilepsy. Epilepsy Behav EB. 2020;102:106675.