Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel

Abstract Background Non-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 20...

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Autores principales:	Ann-Marie Chapman, Marieke Schurer, Laure Weijers, Amer Omar, Hiba Lee, Alla Zozulya Weidenfeller, Crispin Ellis, Shaneil Sonecha, Christiane Schneider-Gold
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Non-dystrophic myotonia Delphi panel Mexiletine (NaMuscla) Quality of life Healthcare resource utilisation INQoL Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/2cdb57b2b6a248bc977784e77cd32aaa
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spelling	oai:doaj.org-article:2cdb57b2b6a248bc977784e77cd32aaa2021-12-05T12:08:49ZImproving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel10.1186/s12883-021-02491-31471-2377https://doaj.org/article/2cdb57b2b6a248bc977784e77cd32aaa2021-12-01T00:00:00Zhttps://doi.org/10.1186/s12883-021-02491-3https://doaj.org/toc/1471-2377Abstract Background Non-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 2018. This Delphi panel aimed to understand how outcomes of the pivotal phase III Mexiletine study (MYOMEX) translate to real world practice and investigate health resource use, quality of life and the natural history of NDM to support economic modelling and facilitate patient access. Methods Nine clinical experts in treating NDM took part in a two-round Delphi panel. Their knowledge of NDM and previous use of mexiletine as an off-label treatment prior to NaMuscla’s approval ensured they could provide both qualitative context and quantitative estimates to support economic modelling comparing mexiletine (NaMuscla) to best supportive care. Consensus in four key areas was sought: healthcare resource utilization (HRU), treatment with mexiletine (NaMuscla), patient quality of life (QoL), and the natural history of disease. Concept questions were also asked, considering perceptions on the feasibility of mapping the validated Individualized Neuromuscular Quality of Life (INQoL) instrument to the generic EQ-5D™, and the potential impact on caregiver QoL. Results Consensus was achieved for key questions including the average long-term dosage of mexiletine (NaMuscla) in practice, the criteria for eligibility of myotonia treatment, the clinical importance of QoL outcomes in MYOMEX, the higher proportion of patients with increased QoL, and the reduction in the need for mental health resources for patients receiving mexiletine (NaMuscla). While consensus was not achieved for other questions, the results demonstrated that most experts felt mexiletine (NaMuscla) reduced the need for HRU and was expected to improve QoL. The QoL mapping exercise suggested that it is feasible to map domains of INQoL to EQ-5D. Points of interest for future research were identified, including that mexiletine (NaMuscla) may slow the annual decrease in QoL of patients over their lifetime, and a significant negative impact on QoL for some caregivers. Conclusions This project successfully provided data from an informed group of clinical experts, complementing the currently available clinical trial data for mexiletine (NaMuscla) to support patient access decisions.Ann-Marie ChapmanMarieke SchurerLaure WeijersAmer OmarHiba LeeAlla Zozulya WeidenfellerCrispin EllisShaneil SonechaChristiane Schneider-GoldBMCarticleNon-dystrophic myotoniaDelphi panelMexiletine (NaMuscla)Quality of lifeHealthcare resource utilisationINQoLNeurology. Diseases of the nervous systemRC346-429ENBMC Neurology, Vol 21, Iss 1, Pp 1-16 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Non-dystrophic myotonia Delphi panel Mexiletine (NaMuscla) Quality of life Healthcare resource utilisation INQoL Neurology. Diseases of the nervous system RC346-429
spellingShingle	Non-dystrophic myotonia Delphi panel Mexiletine (NaMuscla) Quality of life Healthcare resource utilisation INQoL Neurology. Diseases of the nervous system RC346-429 Ann-Marie Chapman Marieke Schurer Laure Weijers Amer Omar Hiba Lee Alla Zozulya Weidenfeller Crispin Ellis Shaneil Sonecha Christiane Schneider-Gold Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
description	Abstract Background Non-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 2018. This Delphi panel aimed to understand how outcomes of the pivotal phase III Mexiletine study (MYOMEX) translate to real world practice and investigate health resource use, quality of life and the natural history of NDM to support economic modelling and facilitate patient access. Methods Nine clinical experts in treating NDM took part in a two-round Delphi panel. Their knowledge of NDM and previous use of mexiletine as an off-label treatment prior to NaMuscla’s approval ensured they could provide both qualitative context and quantitative estimates to support economic modelling comparing mexiletine (NaMuscla) to best supportive care. Consensus in four key areas was sought: healthcare resource utilization (HRU), treatment with mexiletine (NaMuscla), patient quality of life (QoL), and the natural history of disease. Concept questions were also asked, considering perceptions on the feasibility of mapping the validated Individualized Neuromuscular Quality of Life (INQoL) instrument to the generic EQ-5D™, and the potential impact on caregiver QoL. Results Consensus was achieved for key questions including the average long-term dosage of mexiletine (NaMuscla) in practice, the criteria for eligibility of myotonia treatment, the clinical importance of QoL outcomes in MYOMEX, the higher proportion of patients with increased QoL, and the reduction in the need for mental health resources for patients receiving mexiletine (NaMuscla). While consensus was not achieved for other questions, the results demonstrated that most experts felt mexiletine (NaMuscla) reduced the need for HRU and was expected to improve QoL. The QoL mapping exercise suggested that it is feasible to map domains of INQoL to EQ-5D. Points of interest for future research were identified, including that mexiletine (NaMuscla) may slow the annual decrease in QoL of patients over their lifetime, and a significant negative impact on QoL for some caregivers. Conclusions This project successfully provided data from an informed group of clinical experts, complementing the currently available clinical trial data for mexiletine (NaMuscla) to support patient access decisions.
format	article
author	Ann-Marie Chapman Marieke Schurer Laure Weijers Amer Omar Hiba Lee Alla Zozulya Weidenfeller Crispin Ellis Shaneil Sonecha Christiane Schneider-Gold
author_facet	Ann-Marie Chapman Marieke Schurer Laure Weijers Amer Omar Hiba Lee Alla Zozulya Weidenfeller Crispin Ellis Shaneil Sonecha Christiane Schneider-Gold
author_sort	Ann-Marie Chapman
title	Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
title_short	Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
title_full	Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
title_fullStr	Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
title_full_unstemmed	Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel
title_sort	improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (namuscla): outcomes of treatment impact using a european delphi panel
publisher	BMC
publishDate	2021
url	https://doaj.org/article/2cdb57b2b6a248bc977784e77cd32aaa
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Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel

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