{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T02:02:38Z","timestamp":1780365758803,"version":"3.54.1"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203105\/Z\/16\/Z"],"award-info":[{"award-number":["203105\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Incorporating patient preferences into drug development is crucial, particularly, for rare diseases with significant unmet needs. This study used Best\u2010Worst Scaling type 2 (BWS\u20102) to explore benefit\u2013risk trade\u2010offs for patients and caregivers in two rare neuromuscular diseases (NMDs), myotonic dystrophy type 1 (DM1), and mitochondrial myopathy (MM). Patients with DM1 and MM, along with caregivers, completed a BWS\u20102 survey assessing four treatment benefits (muscle strength, energy and endurance, balance, cognition) and two risks (permanent liver damage, temporary blurring of vision). Participants were stratified by disease group and age of onset (&lt;\u200920, \u2265\u200920\u2009years). A latent class analysis was used to calculate the relative importance of each treatment attribute. Sociodemographic and disease\u2010related data were also collected. A total of 270 participants (DM1\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009143, MM\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u2009127, including 37 caregivers) were included. BWS\u20102 results revealed a priority for improvements in muscle strength (24%), and energy and endurance (23%) across all groups, with caregivers placing a higher priority on cognition improvements (17%) compared to patients. There were no significant differences between disease groups or by age of onset. This study underscores the importance of patient preferences in drug development for rare NMDs. The consensus on treatment priorities across both diseases suggests that overlapping clinical features can inform and expedite future NMD or rare disease drug development.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70100","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T01:11:46Z","timestamp":1780362706000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0488-9631","authenticated-orcid":false,"given":"Aura Cecilia","family":"Jimenez\u2010Moreno","sequence":"first","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research. Translational and Clinical Research Institute. Faculty of Medical Sciences, Newcastle University  Newcastle upon Tyne UK"},{"name":"National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC)  Newcastle upon Tyne UK"},{"name":"Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"},{"name":"Kielo Research  York UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair","family":"Blain","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research. Translational and Clinical Research Institute. Faculty of Medical Sciences, Newcastle University  Newcastle upon Tyne UK"},{"name":"National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC)  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy Anne","family":"Pinto","sequence":"additional","affiliation":[{"name":"Merck &amp; Co., Inc.  Rahway New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas","family":"Soekhai","sequence":"additional","affiliation":[{"name":"Erasmus Choice Modelling Centre, Erasmus University Rotterdam  Rotterdam DR the Netherlands"},{"name":"Erasmus School of Health Policy and Management, Erasmus University Rotterdam  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer Viberg","family":"Johansson","sequence":"additional","affiliation":[{"name":"Department of Public Health and Caring Sciences Centre for Research Ethics and Bioethics, Uppsala University  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Dyer","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research. Translational and Clinical Research Institute. Faculty of Medical Sciences, Newcastle University  Newcastle upon Tyne UK"},{"name":"National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC)  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Adcock","sequence":"additional","affiliation":[{"name":"Muscular Dystrophy UK  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther W.","family":"de Bekker\u2010Grob","sequence":"additional","affiliation":[{"name":"Erasmus Choice Modelling Centre, Erasmus University Rotterdam  Rotterdam DR the Netherlands"},{"name":"Erasmus School of Health Policy and Management, Erasmus University Rotterdam  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Ardine","family":"de Wit","sequence":"additional","affiliation":[{"name":"Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Newman","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research. Translational and Clinical Research Institute. Faculty of Medical Sciences, Newcastle University  Newcastle upon Tyne UK"},{"name":"National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC)  Newcastle upon Tyne UK"},{"name":"Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gr\u00e1inne S.","family":"Gorman","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research. Translational and Clinical Research Institute. Faculty of Medical Sciences, Newcastle University  Newcastle upon Tyne UK"},{"name":"National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC)  Newcastle upon Tyne UK"},{"name":"Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,1]]},"reference":[{"issue":"1","key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s40271-023-00649-4","article-title":"Role Preferences in Medical Decision Making: Relevance and Implications for Health Preference Research","volume":"17","author":"Til J. A.","year":"2024","journal-title":"Patient"},{"key":"e_1_2_11_3_1","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2023.1192770","article-title":"How Can Patient Preferences Be Used and Communicated in the Regulatory Evaluation of Medicinal Products? Findings and Recommendations From IMI PREFER and Call to Action","volume":"14","author":"Janssens R.","year":"2023","journal-title":"Frontiers in Pharmacology"},{"issue":"9","key":"e_1_2_11_4_1","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1177\/0883073813495959","article-title":"Clinical Trials in Rare Disease: Challenges and Opportunities","volume":"28","author":"Augustine E. F.","year":"2013","journal-title":"Journal of Child Neurology"},{"issue":"1","key":"e_1_2_11_5_1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-018-0931-2","article-title":"Recommendations for the Design of Small Population Clinical Trials","volume":"13","author":"Day S.","year":"2018","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"e_1_2_11_6_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.jocm.2023.100466","article-title":"The Rise of Best\u2010Worst Scaling for Prioritization: A Transdisciplinary Literature Review","volume":"50","author":"Schuster A. L. R.","year":"2024","journal-title":"Journal of Choice Modelling"},{"issue":"3","key":"e_1_2_11_7_1","first-page":"239","article-title":"Comparing Outcomes of a Discrete Choice Experiment and Case 2 Best\u2010Worst Scaling: An Application to Neuromuscular Disease Treatment","volume":"16","author":"Soekhai V.","year":"2023","journal-title":"Patient"},{"key":"e_1_2_11_8_1","volume-title":"PREFER Recommendations\u2014Why, When and How to Assess and Use Patient Preferences in Medical Product Decision\u2010Making","author":"The PREFER Consortium","year":"2022"},{"issue":"2","key":"e_1_2_11_9_1","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/nan.12333","article-title":"Review: Central Nervous System Involvement in Mitochondrial Disease","volume":"43","author":"Lax N. 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C.","year":"2020","journal-title":"Wellcome Open Research"},{"issue":"3","key":"e_1_2_11_13_1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.nmd.2015.12.004","article-title":"How Robust Is ACTIVLIM for the Follow\u2010Up of Activity Limitations in Patients With Neuromuscular Diseases?","volume":"26","author":"Batcho C. 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