Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants’ Experience

Carlos Capella-Peris (), Mary M. Cosgrove, Irene C. Chrismer, M. Sonia Razaqyar, Jeffrey S. Elliott, Anna Kuo, Magalie Emile-Backer and Katherine G. Meilleur
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Carlos Capella-Peris: National Institute of Nursing Research, National Institutes of Health
Mary M. Cosgrove: National Institute of Nursing Research, National Institutes of Health
Irene C. Chrismer: National Institute of Nursing Research, National Institutes of Health
M. Sonia Razaqyar: National Institute of Nursing Research, National Institutes of Health
Jeffrey S. Elliott: National Institute of Nursing Research, National Institutes of Health
Anna Kuo: National Institute of Nursing Research, National Institutes of Health
Magalie Emile-Backer: National Institute of Nursing Research, National Institutes of Health
Katherine G. Meilleur: National Institute of Nursing Research, National Institutes of Health

The Patient: Patient-Centered Outcomes Research, 2020, vol. 13, issue 4, No 4, 423-434

Abstract: 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 postintervention interviews than for baseline and preintervention 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.

Date: 2020
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DOI: 10.1007/s40271-020-00418-7

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