{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T03:19:13Z","timestamp":1780629553995,"version":"3.54.1"},"reference-count":39,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T00:00:00Z","timestamp":1603411200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010767","name":"Innovative Medicines Initiative","doi-asserted-by":"publisher","award":["115966"],"award-info":[{"award-number":["115966"]}],"id":[{"id":"10.13039\/501100010767","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203105"],"award-info":[{"award-number":["203105"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["wellcomeopenresearch.org"],"crossmark-restriction":false},"short-container-title":["Wellcome Open Res"],"abstract":"<ns3:p>\n                    <ns3:bold>Objectives:<\/ns3:bold>\n                    Patient preference studies are increasingly used to inform decision-making during the medical product lifecycle but are rarely used to inform early stages of drug development.\u00a0 The primary aim of this study is to quantify treatment preferences of patients with neuromuscular disorders, which represent serious and debilitating conditions with limited or no treatment options available.\n                  <\/ns3:p>\n                  <ns3:p>\n                    <ns3:bold>Methods:<\/ns3:bold>\n                    This quantitative patient preferences study was designed as an online survey, with a cross-over design.\u00a0 This study will target two different diseases from the neuromuscular disorders disease group, myotonic dystrophy type 1 (DM1) and mitochondrial myopathies (MM). Despite having different physio-pathological pathways both DM1 and MM manifest in a clinically similar manner and may benefit from similar treatment options. \u00a0The sample will be stratified into three subgroups: two patient groups differentiated by age of symptom onset and one caregivers group.\u00a0\u00a0 Each subgroup will be randomly assigned to complete two of three different preference elicitation methods at two different time points: Q-methodology survey, discrete choice experiment, and best-worst scaling type 2, allowing cross-comparisons of the results across each study time within participants and within elicitation methods. Additional variables such as sociodemographic, clinical and health literacy will be collected to enable analysis of potential heterogeneity.\n                  <\/ns3:p>\n                  <ns3:p>\n                    <ns3:bold>Ethics and Dissemination:<\/ns3:bold>\n                    This study protocol has undergone ethical review and approval by the Newcastle University R&amp;D Ethics Committee (Ref: 15169\/2018). All participants will be invited to give electronic informed consent to take part in the study prior accessing the online survey. All electronic data will be anonymised prior analysis. This study is part of the Patient Preferences in Benefit-Risk Assessments during the Drug Life Cycle (IMI-PREFER) project, a public-private collaborative research project aiming to develop expert and evidence-based recommendations on how and when patient preferences can be assessed and used to inform medical product decision making.\n                  <\/ns3:p>","DOI":"10.12688\/wellcomeopenres.16116.1","type":"journal-article","created":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T08:30:09Z","timestamp":1603441809000},"page":"253","update-policy":"https:\/\/doi.org\/10.12688\/wellcomeopenres.crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project"],"prefix":"10.12688","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0488-9631","authenticated-orcid":false,"given":"Aura Cecilia","family":"Jimenez-Moreno","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy Anne","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bennett","family":"Levitan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Whichello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Dyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eline","family":"Van Overbeeke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"de Bekker-Grob","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Huys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9533-9274","authenticated-orcid":false,"given":"Jennifer","family":"Viberg Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Adcock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6039-4222","authenticated-orcid":false,"given":"Kristin","family":"Bullock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas","family":"Soekhai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhong","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochmuller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1375-7657","authenticated-orcid":false,"given":"Ardine","family":"de Wit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grainne S.","family":"Gorman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2020,10,23]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"753-9","DOI":"10.1002\/ana.24362","article-title":"Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.","volume":"77","author":"G Gorman","year":"2015","journal-title":"Ann Neurol."},{"key":"ref-2","doi-asserted-by":"crossref","first-page":"S23.003","DOI":"10.1212\/WNL.92.15_supplement.S23.003","article-title":"Genetic Prevalence of Myotonic Dystrophy Type 1 (S23.003).","volume":"92","author":"N Johnson","year":"2019","journal-title":"Neurology."},{"key":"ref-3","first-page":"221-31","article-title":"New genes for old diseases: the molecular basis of myotonic dystrophy and Huntington's disease. 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An Application of Research as an Event.","volume":"12","author":"J Bridges","year":"2019","journal-title":"Patient."},{"key":"ref-34","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2019.00082","article-title":"Patient Preference Studies During Early Drug Development: Aligning Stakeholders to Ensure Development Plans Meet Patient Needs.","volume":"6","author":"N Cook","year":"2019","journal-title":"Front Med (Lausanne)."},{"key":"ref-35","doi-asserted-by":"crossref","first-page":"12-25","DOI":"10.1177\/074391569201100202","article-title":"Determining the appropriate response to evidence of public concern: the case of food safety.","volume":"11","author":"A Finn","year":"1992","journal-title":"J Public Policy Mark."},{"key":"ref-36","doi-asserted-by":"publisher","first-page":"373-84","DOI":"10.1007\/s40271-015-0118-z","article-title":"Sample size requirements for discrete-choice experiments in healthcare: a practical guide.","volume":"8","author":"E de Bekker-Grob","year":"2015","journal-title":"Patient."},{"key":"ref-37","doi-asserted-by":"publisher","first-page":"201-26","DOI":"10.1007\/s40273-018-0734-2","article-title":"Discrete choice experiments in health economics: past, present and future.","volume":"37","author":"V Soekhai","year":"2019","journal-title":"Pharmacoeconomics."},{"key":"ref-38","doi-asserted-by":"publisher","first-page":"2915-24","DOI":"10.1080\/00036840801964633","article-title":"Latent class model or mixed logit model? A comparison by transport mode choice data.","volume":"41","author":"J Shen","year":"2009","journal-title":"Appl Econ."},{"key":"ref-39","doi-asserted-by":"publisher","first-page":"300-15","DOI":"10.1016\/j.jval.2016.04.004","article-title":"Statistical methods for the analysis of discrete choice experiments: a report of the ISPOR Conjoint Analysis Good Research Practices Task Force.","volume":"19","author":"A Hauber","year":"2016","journal-title":"Value Health."}],"container-title":["Wellcome Open Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/wellcomeopenresearch.org\/articles\/5-253\/v1\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/wellcomeopenresearch.org\/articles\/5-253\/v1\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/wellcomeopenresearch.org\/articles\/5-253\/v1\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T05:51:37Z","timestamp":1723787497000},"score":1,"resource":{"primary":{"URL":"https:\/\/wellcomeopenresearch.org\/articles\/5-253\/v1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,23]]},"references-count":39,"URL":"https:\/\/doi.org\/10.12688\/wellcomeopenres.16116.1","relation":{"has-review":[{"id-type":"doi","id":"10.21956\/wellcomeopenres.17689.r42352","asserted-by":"subject"},{"id-type":"doi","id":"10.21956\/wellcomeopenres.17689.r44933","asserted-by":"subject"},{"id-type":"doi","id":"10.21956\/wellcomeopenres.17689.r44933","asserted-by":"object"},{"id-type":"doi","id":"10.21956\/wellcomeopenres.17689.r42352","asserted-by":"object"},{"id-type":"doi","id":"10.21956\/wellcomeopenres.17689.r44940","asserted-by":"object"}]},"ISSN":["2398-502X"],"issn-type":[{"value":"2398-502X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,23]]},"assertion":[{"value":"Indexed","URL":"https:\/\/wellcomeopenresearch.org\/articles\/5-253\/v1#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.21956\/wellcomeopenres.17689.r42352, Nicholas E Johnson, Department of Neurology, Virginia Commonwealth University Health, Richmond, Virginia, USA, 25 Mar 2021, version 1, indexed","URL":"https:\/\/wellcomeopenresearch.org\/articles\/5-253\/v1#referee-response-42352","order":0,"name":"referee-response-42352","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.21956\/wellcomeopenres.17689.r44933, Doroth\u00e9e Lul\u00e9, Department of Neurology, Ulm University, Ulm, Germany, 09 Aug 2021, version 1, indexed","URL":"https:\/\/wellcomeopenresearch.org\/articles\/5-253\/v1#referee-response-44933","order":1,"name":"referee-response-44933","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"Dr. Grainne Gorman leads the Wellcome Centre for Mitochondrial Research, which is supported by the Wellcome Centre Awards: 203105). This study is part of the PREFER project. The Patient Preferences in Benefit-Risk Assessments during the Drug Life Cycle (PREFER) project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 115966. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme and EFPIA (European Federation of Pharmaceutical Industries and Associations). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}