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Understanding symptoms in RYR1-Related Myopathies: A mixed-methods analysis based on participants' experience

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Understanding symptoms in RYR1-Related Myopathies: A mixed-methods analysis based on participants' experience

dc.contributor.author	Capella Peris, Carlos
dc.contributor.author	Cosgrove, Mary Margaret
dc.contributor.author	Chrismer, Irene C.
dc.contributor.author	Razaqyar, M. Sonia
dc.contributor.author	Elliott, Jeffrey S.
dc.contributor.author	Kuo, Anna
dc.contributor.author	Backer, Magalie Emile
dc.contributor.author	Meilleur, Katherine G.
dc.date.accessioned	2021-03-30T17:08:58Z
dc.date.available	2021-03-30T17:08:58Z
dc.date.issued	2020
dc.identifier.uri	https://hdl.handle.net/10550/78499
dc.description.abstract	Background: In rare diseases such as ryanodine receptor 1-related myopathies (RYR1-RM), health-related quality of life (HRQoL) measures are critically important so clinicians and researchers can better understand what symptoms are most important to participants, with the ultimate goal of finding tangible solutions for them. Objectives: The main objective of this study was to characterize symptoms in individuals with RYR1-RM to inform future research. A secondary objective of this study was to analyze positive and negative sentiments regarding symptoms and treatment effects post N-acetylcysteine (NAC) administration in individuals with RYR1-RM. Methods: The study used a mixed-methods design applying methodological triangulation. Qualitative data were collected via semi-structured interviews at three visits to characterize symptoms in individuals with RYR1-RM and to analyze treatment effects. Qualitative data were then transformed into quantitative results to measure the frequency with which each symptom was mentioned by participants. Results: A total of 12 symptoms were identified as areas of interest to participants with RYR1-RM, highlighting fatigue and weakness as key symptoms. Data transformation categorized more than 1000 citations, reporting a greater number of positive comments for post-intervention interviews than for baseline and pre-intervention visits and that NAC group participants stated more positive comments regarding treatment effect than did the placebo group. Conclusions: We present a comprehensive characterization of symptoms in RYR1-RM and how those symptoms influence HRQoL. Furthermore, the introduction of mixed methods may be a valuable way to better understand patient-centered data in rare diseases to support affected individuals in coping with their symptoms.
dc.language.iso	eng
dc.relation.ispartof	Patient-Patient Centered Outcomes Research, 2020, vol. 13, num. 4, p. 423-434
dc.source	Capella Peris, Carlos Cosgrove, Mary Margaret Chrismer, Irene C. Razaqyar, M. Sonia Elliott, Jeffrey S. Kuo, Anna Backer, Magalie Emile Meilleur, Katherine G. 2020 Understanding symptoms in RYR1-Related Myopathies: A mixed-methods analysis based on participants' experience Patient-Patient Centered Outcomes Research 13 4 423 434
dc.subject	Educació física
dc.subject	Esports
dc.title	Understanding symptoms in RYR1-Related Myopathies: A mixed-methods analysis based on participants' experience
dc.type	journal article	es_ES
dc.date.updated	2021-03-30T17:08:59Z
dc.identifier.doi	https://doi.org/10.1007/s40271-020-00418-7
dc.identifier.idgrec	144500
dc.rights.accessRights	open access	es_ES