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Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy

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Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy

dc.contributor.author	Capella Peris, Carlos
dc.contributor.author	Cosgrove, Mary Margaret
dc.contributor.author	Chrismer, Irene C.
dc.contributor.author	Backer, Magalie Emile
dc.contributor.author	Razaqyar, M. Sonia
dc.contributor.author	Elliott, Jeffrey S.
dc.contributor.author	Kuo, Anna
dc.contributor.author	Wakim, Paul G.
dc.contributor.author	Meilleur, Katherine G.
dc.date.accessioned	2021-03-30T17:21:57Z
dc.date.available	2021-03-30T17:21:57Z
dc.date.issued	2020
dc.identifier.citation	Capella Peris, Carlos Cosgrove, Mary Margaret Chrismer, Irene C. Backer, Magalie Emile Razaqyar, M. Sonia Elliott, Jeffrey S. Kuo, Anna Wakim, Paul G. Meilleur, Katherine G. 2020 Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy Quality of Life Research 29 6 1641 1653
dc.identifier.uri	https://hdl.handle.net/10550/78501
dc.description.abstract	Purpose: To characterize Health-Related Quality of Life (HRQoL) in ambulant individuals with RYR1-RM and to determine if a qualitative PRO tool (subjective self-assessment) complements PROMIS and Neuro-QoL scales to detect changes in HRQoL in ambulant individuals with RYR1-RM post N-acetylcysteine (NAC) treatment. Methods: The study used a mixed methods research (MMR) design applying methodological triangulation. Qualitative data were collected via semi-structured interviews using open-ended questions. Quantitative data were gathered through PROMIS and Neuro-QoL instruments. Additionally, qualitative data were transformed into quantitative data for subjective self-assessment and frequency analyses. Results: Qualitative results identified five domains and 33 subdomains as areas of interest. The most valuable were the importance of social impacts, the development of several coping strategies, both physical and psychological, and the identification of fatigue and weakness as key symptoms. Data transformation then categorized more than 3100 citations on frequency analyses, globally and by domain, visit, and participant. Regarding quantitative results, there was no clear evidence that any of the three PRO tools captured positive changes as a result of NAC treatment. Conclusion: Qualitative results showed a comprehensive characterization of HRQoL in this population based on a symptom/patient-centered approach. These findings will inform future studies. Furthermore, given the similar findings across our multiple methods and endpoints, the introduction of MMR may be a valuable, complementary approach to clinical trials. MMR may be especially useful to incorporate in order to address and follow the FDA's guidance and prioritization on the inclusion of affected individuals' perspectives in clinical trials.
dc.language.iso	eng
dc.relation.ispartof	Quality of Life Research, 2020, vol. 29, num. 6, p. 1641-1653
dc.subject	Esports
dc.subject	Educació física
dc.title	Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy
dc.type	journal article	es_ES
dc.date.updated	2021-03-30T17:21:57Z
dc.identifier.doi	10.1007/s11136-020-02428-2
dc.identifier.idgrec	144499
dc.rights.accessRights	open access	es_ES