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As neuromuscular disorders represent multisystem, debilitating, and progressive rare diseases with few treatment options, this study aimed to explore unmet health care needs and patient treatment preferences for two neuromuscular disorders, myotonic dystrophy type 1 (DM1) and mitochondrial myopathies (MM) to inform early stages of drug development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fifteen semi-structured interviews and five focus group discussions (FGDs) were held with DM1 and MM adult patients and caregivers. Topics discussed included (1) reasons for study participation; (2) disease signs\/symptoms and their impact on daily lives; (3) top desired benefits; and (4) acceptability of risks and tolerance levels for a hypothetical new treatment. Data were analyzed following a thematic \u2018code\u2019 approach.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 52 participants representing a wide range of disease severities participated. \u2018Muscle strength\u2019 and \u2018energy and endurance\u2019 were the disease-related unmet needs most often mentioned. Additionally, improved \u2018balance\u2019, \u2018cognition\u2019 and \u2018gut function\u2019 were the top desired treatment benefits, while \u2018damage to the liver, kidneys or eyes\u2019 was the most concerning risk. Factors influencing their tolerance to risks related to previously having experienced the risk and differentiation between permanent and temporary risks. A few differences were elicited between patients and caregivers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This qualitative study provided an open forum to elicit treatment-desired benefits and acceptable risks to be established by patients themselves. These findings can inform decisions for developing new treatments and the design of clinical trials for DM1 and MM.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s40271-020-00482-z","type":"journal-article","created":{"date-parts":[[2021,3,4]],"date-time":"2021-03-04T01:03:03Z","timestamp":1614819783000},"page":"601-612","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study"],"prefix":"10.1007","volume":"14","author":[{"given":"A. 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The 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 the European Federation of Pharmaceutical Industries and Associations (EFPIA). Dr. Gorman\u2019s work is supported by the Wellcome Trust Award (203105\/Z\/16\/Z). Additionally, the delivery of MM Focus Groups was supported by the Wellcome Engagement Enrichment award 203105\/Z\/16\/B.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}},{"value":"A. Cecilia Jimenez-Moreno, Eline van Overbeeke, Cathy Anne Pinto, Ian Smith, Jenny Sharpe, James Ormrod, Chiara Whichello, Esther W. de Bekker-Grob, Kristin Bullok, Bennett Levitan, Isabelle Huys, G. Ardine de Wit, and Grainne Gorman wish to confirm they have no known conflicts of interest associated with this publication and that any financial support facilitating this work (i.e. study grant) could not have influenced the study outcome. The views expressed are entirely those of the authors and do not necessarily reflect those from the institutions to which they are or were affiliated.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of Interest"}},{"value":"This protocol and associated patient consent materials were reviewed and approved by the Ethics Committee at Newcastle University, UK (ref: 8840\/2018).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"All authors collaborated in the conceptualization of this study and the interview guides. CJM delivered all FGDs and interviews. EvO, IH, JO and CJM created and validated the coding tree for analysis. CJM led the coding of the transcripts. IS and CW led the sociodemographic and clinical statistics. JS supported with patient recruitment and patient engagement tasks. CAP, GAdW and GG supervised the delivery of this study. CJM and EvO conceptualized the initial draft of this manuscript and all authors contributed significantly to the final version. GG is the principal investigator and grant recipient for this study.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Author Contributions"}},{"value":"Material supporting the delivery of this study (i.e. interview guides and predefined ranking list) are included in this published article (and its supplementary information files). The datasets (i.e. transcripts) generated and\/or analyzed during the current study are available from the corresponding author on reasonable request.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data Availability Statement"}}]}}