{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:30:50Z","timestamp":1747197050251},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>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\u00ae) 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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\u2019s 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\u2122, and the potential impact on caregiver QoL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12883-021-02491-3","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T11:03:12Z","timestamp":1638356592000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"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"],"prefix":"10.1186","volume":"21","author":[{"given":"Ann-Marie","family":"Chapman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieke","family":"Schurer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Weijers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amer","family":"Omar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiba","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alla Zozulya","family":"Weidenfeller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Crispin","family":"Ellis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaneil","family":"Sonecha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiane","family":"Schneider-Gold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,12,1]]},"reference":[{"key":"2491_CR1","first-page":"46","volume":"15","author":"C Hahn","year":"2016","unstructured":"Hahn C, Salajegheh MK. Myotonic disorders: a review article. Iran J Neurol. 2016;15:46\u201353.","journal-title":"Iran J Neurol"},{"key":"2491_CR2","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1002\/mus.26887","volume":"62","author":"BC Stunnenberg","year":"2020","unstructured":"Stunnenberg BC, LoRusso S, Arnold WD, et al. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle Nerve. 2020;62:430\u201344.","journal-title":"Muscle Nerve"},{"key":"2491_CR3","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.expneurol.2013.12.005","volume":"253","author":"JR Trivedi","year":"2014","unstructured":"Trivedi JR, Cannon SC, Griggs RC. Nondystrophic myotonia: challenges and future directions. Exp Neurol. 2014;253:28\u201330.","journal-title":"Exp Neurol"},{"key":"2491_CR4","volume-title":"Orphan maintenance assessment report - NaMuscla (mexiletine hydrochloride)","author":"European Medicines Agency","year":"2018","unstructured":"European Medicines Agency. Orphan maintenance assessment report - NaMuscla (mexiletine hydrochloride). 2018. Available at: https:\/\/www.ema.europa.eu\/en\/documents\/orphan-maintenance-report\/namuscla-orphan-maintenance-assessment-report-initial-authorisation_en.pdf. Accessed May 2021."},{"key":"2491_CR5","doi-asserted-by":"publisher","first-page":"1472","DOI":"10.1212\/WNL.0b013e31828cf8d0","volume":"80","author":"A Horga","year":"2013","unstructured":"Horga A, Rayan DR, Matthews E, et al. Prevalence study of genetically defined skeletal muscle channelopathies in England. Neurology. 2013;80:1472\u20135.","journal-title":"Neurology"},{"key":"2491_CR6","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1002\/ana.410030614","volume":"3","author":"RC Griggs","year":"1978","unstructured":"Griggs RC, Moxley RT 3rd, Riggs JE, Engel WK. Effects of acetazolamide on myotonia. Ann Neurol. 1978;3:531\u20137.","journal-title":"Ann Neurol"},{"key":"2491_CR7","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1097\/WCO.0b013e32832efa8f","volume":"22","author":"D Platt","year":"2009","unstructured":"Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol. 2009;22:524\u201331.","journal-title":"Curr Opin Neurol"},{"key":"2491_CR8","first-page":"1257","volume-title":"Nondystrophic myotonias and periodic paralyses","author":"F Lehman-Horn","year":"2004","unstructured":"Lehman-Horn F, R\u00fcdel R, Jurkat-Rott K. Nondystrophic myotonias and periodic paralyses. United States: The McGraw-Hill Companies I; 2004. p. 1257\u201398 https:\/\/www.researchgate.net\/publication\/257920516_Non-dystrophic_myotonias_and_periodic_paralyses."},{"key":"2491_CR9","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1007\/s00415-009-5049-y","volume":"256","author":"J Trip","year":"2009","unstructured":"Trip J, de Vries J, Drost G, Ginjaar HB, van Engelen BG, Faber CG. Health status in non-dystrophic myotonias: close relation with pain and fatigue. J Neurol. 2009;256:939\u201347.","journal-title":"J Neurol"},{"key":"2491_CR10","doi-asserted-by":"publisher","first-page":"2189","DOI":"10.1093\/brain\/awt133","volume":"136","author":"JR Trivedi","year":"2013","unstructured":"Trivedi JR, Bundy B, Statland J, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain. 2013;136:2189\u2013200.","journal-title":"Brain"},{"key":"2491_CR11","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1111\/j.1468-1331.2012.03751.x","volume":"19","author":"VA Sansone","year":"2012","unstructured":"Sansone VA, Ricci C, Montanari M, et al. Measuring quality of life impairment in skeletal muscle channelopathies. Eur J Neurol. 2012;19:1470\u20136.","journal-title":"Eur J Neurol"},{"key":"2491_CR12","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1136\/jnnp.2008.162396","volume":"80","author":"J Trip","year":"2009","unstructured":"Trip J, Drost G, Ginjaar HB, et al. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry. 2009;80:647\u201352.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2491_CR13","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1093\/brain\/awp294","volume":"133","author":"E Matthews","year":"2010","unstructured":"Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain. 2010;133:9\u201322.","journal-title":"Brain"},{"key":"2491_CR14","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1007\/s11940-020-00644-2","volume":"22","author":"N Jitpimolmard","year":"2020","unstructured":"Jitpimolmard N, Matthews E, Fialho D. Treatment updates for neuromuscular channelopathies. Curr Treat Options Neurol. 2020;22:34.","journal-title":"Curr Treat Options Neurol"},{"key":"2491_CR15","volume-title":"Summary of opinion NaMuscla. EMA\/CHMP\/650838\/2018","author":"European Medicines Agency","year":"2018","unstructured":"European Medicines Agency. Summary of opinion NaMuscla. EMA\/CHMP\/650838\/2018. 2018. Available at: https:\/\/www.ema.europa.eu\/en\/documents\/smop-initial\/chmp-summary-positive-opinion-namuscla_en.pdf. Accessed May 2021."},{"key":"2491_CR16","doi-asserted-by":"publisher","first-page":"1357","DOI":"10.1001\/jama.2012.12607","volume":"308","author":"JM Statland","year":"2012","unstructured":"Statland JM, Bundy BN, Wang Y, et al. Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA. 2012;308:1357\u201365.","journal-title":"JAMA"},{"key":"2491_CR17","doi-asserted-by":"publisher","unstructured":"Vicart S, Franques J, Bouhour F, et al. Efficacy and safety of mexiletine in nondystrophic myotonias: a randomised, double-blind, placebo-controlled, cross-over study. Neuromuscul Disord. 2021. https:\/\/doi.org\/10.1016\/j.nmd.2021.06.010.","DOI":"10.1016\/j.nmd.2021.06.010"},{"key":"2491_CR18","first-page":"665","volume":"139","author":"J Pouget","year":"1983","unstructured":"Pouget J, Serratrice G. Myotonia with muscular weakness corrected by exercise. The therapeutic effect of mexiletine. Rev Neurol. 1983;139:665\u201372.","journal-title":"Rev Neurol"},{"key":"2491_CR19","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1038\/ncpneuro0239","volume":"2","author":"N Chrestian","year":"2006","unstructured":"Chrestian N, Puymirat J, Bouchard JP, Dupr\u00e9 N. Myotonia congenita--a cause of muscle weakness and stiffness. Nat Clin Pract Neurol. 2006;2:393\u20139 quiz following 9.","journal-title":"Nat Clin Pract Neurol"},{"key":"2491_CR20","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1016\/j.clinph.2014.06.008","volume":"126","author":"M Lo Monaco","year":"2015","unstructured":"Lo Monaco M, D'Amico A, Luigetti M, Desaphy JF, Modoni A. Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. Clin Neurophysiol. 2015;126:399\u2013403.","journal-title":"Clin Neurophysiol"},{"key":"2491_CR21","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.1001\/jamaneurol.2015.2338","volume":"72","author":"KJ Suetterlin","year":"2015","unstructured":"Suetterlin KJ, Bugiardini E, Kaski JP, et al. Long-term safety and efficacy of mexiletine for patients with skeletal muscle channelopathies. JAMA Neurol. 2015;72:1531\u20132.","journal-title":"JAMA Neurol"},{"key":"2491_CR22","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.neucli.2017.01.003","volume":"47","author":"F Ginanneschi","year":"2017","unstructured":"Ginanneschi F, Mignarri A, Lucchiari S, et al. Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita. Neurophysiol Clin. 2017;47:247\u201352.","journal-title":"Neurophysiol Clin"},{"key":"2491_CR23","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1097\/00042752-199704000-00012","volume":"7","author":"R Burnham","year":"1997","unstructured":"Burnham R. Unusual causes of stiffness in two hockey players. Clin J Sport Med. 1997;7:137\u201340.","journal-title":"Clin J Sport Med"},{"key":"2491_CR24","first-page":"413","volume":"25","author":"B Rossi","year":"1985","unstructured":"Rossi B, Siciliano G, Sartucci F. Electrophysiological evaluation of congenital myotonia. Electromyogr Clin Neurophysiol. 1985;25:413\u201322.","journal-title":"Electromyogr Clin Neurophysiol"},{"key":"2491_CR25","first-page":"130","volume":"12","author":"HC Kuo","year":"2003","unstructured":"Kuo HC, Huang CC, Chu CC, Chiang SY, Hsiao KM. Autosomal dominant Myotonia Congenita in a Taiwanese family and beneficial response to mexiletine. Acta Neurol Taiwanica. 2003;12:130\u20135.","journal-title":"Acta Neurol Taiwanica"},{"key":"2491_CR26","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1002\/mus.880170710","volume":"17","author":"CE Jackson","year":"1994","unstructured":"Jackson CE, Barohn RJ, Ptacek LJ. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve. 1994;17:763\u20138.","journal-title":"Muscle Nerve"},{"key":"2491_CR27","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1002\/(SICI)1097-4598(199908)22:8<1157::AID-MUS26>3.0.CO;2-H","volume":"22","author":"GB Colazza","year":"1999","unstructured":"Colazza GB, Casali C, Spadaro M, Di Gennaro G, Cesaria VD, Pierelli F. Electrooculographic findings in an unusual case of paramyotonia congenita. Muscle Nerve. 1999;22:1157\u20138.","journal-title":"Muscle Nerve"},{"key":"2491_CR28","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1016\/S0035-3787(07)74181-4","volume":"163","author":"M Sallansonnet-Froment","year":"2007","unstructured":"Sallansonnet-Froment M, Bounolleau P, De Greslan T, Ricard D, Taillia H, Renard JL. Eulenburg\u2019s paramyotonia congenita. Rev Neurol. 2007;163:1083\u201390.","journal-title":"Rev Neurol"},{"key":"2491_CR29","doi-asserted-by":"publisher","first-page":"1095","DOI":"10.1001\/archneur.1994.00540230033009","volume":"51","author":"K Ricker","year":"1994","unstructured":"Ricker K, Moxley RT 3rd, Heine R, Lehmann-Horn F. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol. 1994;51:1095\u2013102.","journal-title":"Arch Neurol"},{"key":"2491_CR30","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1212\/WNL.36.5.682","volume":"36","author":"K Ricker","year":"1986","unstructured":"Ricker K, Rohkamm R, B\u00f6hlen R. Adynamia episodica and paralysis periodica paramyotonica. Neurology. 1986;36:682.","journal-title":"Neurology"},{"key":"2491_CR31","first-page":"98","volume":"27","author":"F Lehmann-Horn","year":"2008","unstructured":"Lehmann-Horn F, Jurkat-Rott K, R\u00fcdel R. Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre. Acta Myol. 2008;27:98\u2013113.","journal-title":"Acta Myol"},{"key":"2491_CR32","volume-title":"Methods for health economic evaluations - a guideline based on current practices in Europe","author":"European Network for Health Technology Assessment","year":"2015","unstructured":"European Network for Health Technology Assessment. Methods for health economic evaluations - a guideline based on current practices in Europe. 2015. Available at: https:\/\/www.eunethta.eu\/wp-content\/uploads\/2018\/03\/Methods_for_health_economic_evaluations.pdf. Accessed May 2021."},{"key":"2491_CR33","volume-title":"Guide to the methods of technology appraisal 2013","author":"National Institute for Health and Care Excellence","year":"2013","unstructured":"National Institute for Health and Care Excellence. Guide to the methods of technology appraisal 2013. 2013."},{"key":"2491_CR34","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.jval.2012.10.010","volume":"16","author":"L Longworth","year":"2013","unstructured":"Longworth L, Rowen D. Mapping to obtain EQ-5D utility values for use in NICE health technology assessments. Value Health. 2013;16:202\u201310.","journal-title":"Value Health"},{"key":"2491_CR35","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1136\/jnnp.74.6.710","volume":"74","author":"A Riazi","year":"2003","unstructured":"Riazi A, Hobart JC, Lamping DL, et al. Using the SF-36 measure to compare the health impact of multiple sclerosis and Parkinson\u2019s disease with normal population health profiles. J Neurol Neurosurg Psychiatry. 2003;74:710\u20134.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2491_CR36","doi-asserted-by":"publisher","first-page":"S863","DOI":"10.1016\/j.jval.2019.09.2449","volume":"22","author":"A Lloyd","year":"2019","unstructured":"Lloyd A, Granerod J, Marshall JD, Dom\u00ednguez-Gonz\u00e1lez C, Schneider-Gold C, Farrugia M. A novel mapping approach for estimating utilities in non-dystrophic myotonia. Value Health. 2019;22:S863.","journal-title":"Value Health"},{"key":"2491_CR37","first-page":"1","volume":"12","author":"C Hsu","year":"2007","unstructured":"Hsu C, Sandford BA. The Delphi technique: making sense of consensus. Pract Assess Res Eval. 2007;12:1\u20138.","journal-title":"Pract Assess Res Eval"},{"key":"2491_CR38","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1046\/j.1365-2648.2000.t01-1-01567.x","volume":"32","author":"F Hasson","year":"2000","unstructured":"Hasson F, Keeney S, McKenna H. Research guidelines for the Delphi survey technique. J Adv Nurs. 2000;32:1008\u201315.","journal-title":"J Adv Nurs"},{"key":"2491_CR39","volume-title":"Does my project require review by a Research ethics committee?","author":"NHS Health Research Authority","year":"2020","unstructured":"NHS Health Research Authority. Does my project require review by a Research ethics committee? 2020. Available at: http:\/\/www.hra-decisiontools.org.uk\/ethics\/docs\/Algorithm%20-%20Does%20my%20project%20require%20REC%20review%20v2.0%2020200304.pdf. Accessed Sept 2021."},{"key":"2491_CR40","volume-title":"Mexiletine and non dystrophic myotonias (MYOMEX) - identifier NCT02336477","author":"ClinicalTrials.gov","year":"2015","unstructured":"ClinicalTrials.gov. Mexiletine and non dystrophic myotonias (MYOMEX) - identifier NCT02336477. 2015. Available at: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02336477. Accessed May 2021."},{"key":"2491_CR41","doi-asserted-by":"publisher","first-page":"e11039","DOI":"10.1097\/MD.0000000000011039","volume":"97","author":"T Pousada","year":"2018","unstructured":"Pousada T, Groba B, Nieto-Riveiro L, Pazos A, Diez E, Pereira J. Determining the burden of the family caregivers of people with neuromuscular diseases who use a wheelchair. Medicine (Baltimore). 2018;97:e11039.","journal-title":"Medicine (Baltimore)"},{"key":"2491_CR42","doi-asserted-by":"publisher","first-page":"823","DOI":"10.2340\/16501977-0598","volume":"42","author":"R Timman","year":"2010","unstructured":"Timman R, Tibben A, Wintzen AR. Myotonic dystrophy: the burden for patients and their partners. J Rehabil Med. 2010;42:823\u201330.","journal-title":"J Rehabil Med"},{"key":"2491_CR43","doi-asserted-by":"publisher","first-page":"116172","DOI":"10.1007\/s40273-016-0425-9","volume":"34","author":"CP Iglesias","year":"2016","unstructured":"Iglesias CP, Thompson A, Rogowski WH, Payne K. Reporting guidelines for the use of expert judgement in model-based economic evaluations. Pharmacoeconomics. 2016;34:116172.","journal-title":"Pharmacoeconomics"},{"key":"2491_CR44","volume-title":"MEND: MExiletine versus lamotrigine in non-dystrophic myotonias","author":"NHS Health Research Authority","year":"2021","unstructured":"NHS Health Research Authority. MEND: MExiletine versus lamotrigine in non-dystrophic myotonias. 2021. Available at: https:\/\/www.hra.nhs.uk\/planning-and-improving-research\/application-summaries\/research-summaries\/mend-mexiletine-versus-lamotrigine-in-non-dystrophic-myotonias\/. Accessed Sept 2021."}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-021-02491-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-021-02491-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-021-02491-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T12:42:30Z","timestamp":1699879350000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-021-02491-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":44,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["2491"],"URL":"https:\/\/doi.org\/10.1186\/s12883-021-02491-3","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,1]]},"assertion":[{"value":"23 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 November 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 December 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was not conducted on humans, nor did it involve elicitation of patients, analysis of direct patient data, or research on human tissue\/DNA. In addition, because all participants are adult health care professionals who were contracted by the study sponsor and provided consent to i) participate in this study (online Delphi panel), ii) use their anonymised data in publications, no ethics approval was required according to the UK HRA guideline [CitationRef removed]. The experts\u2019 contracts outlined the aims of the study, the methods, and information about how their data would be used.Informed consent was obtained from all study participants to i) participate in this study and ii) use their anonymised data in publications. In addition, informed consent was obtained from panellists from Denmark, France and Germany to use their non-anonymised responses on HRU.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"AC, MS and LW are employees of BresMed Health Solutions Ltd. BresMed Health Solutions Ltd. was commissioned and received funding from Lupin Atlantis Holdings SA to conduct this study.CE, AO, SS, AZW are employees of subsidiaries of Lupin Atlantis Holdings SA.HL is an employee of AGH Partners Ltd., and works as a consultant for Lupin Ltd.CSG is a Professor and neurologist, specialising in myotonic disorders, employed by the St. Josef-Hospital in Bochum, Germany. CSG worked as an independent clinical advisor on this study and \u00a0received a financial compensation from Lupin Atlantis Holdings SA for her review of study materials at\u00a0the design stage of the Delphi panel; she did not receive a financial compensation for work related to the development of this manuscript.All Delphi panellists received a financial compensation from Lupin Atlantis Holdings SA, in line with the applicable national standards, for their time to participate in this study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"467"}}