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

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 (...

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Publicado en:Quality of Life Research Vol. 29; no. 6; pp. 1641 - 1654
Autores principales: Capella-Peris, Carlos, Cosgrove, Mary M., Chrismer, Irene C., Emile-Backer, Magalie, Razaqyar, M. Sonia, Elliott, Jeffrey S., Kuo, Anna, Wakim, Paul G., Meilleur, Katherine G.
Formato: Journal Article
Publicado: Springer Nature Jun2020
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jun2020
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      pub: Springer Nature
      place: New York, New York
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        NLM32040747
        10.1007/s11136-020-02428-2
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        atl: 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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        au:
          Capella-Peris, Carlos
          Cosgrove, Mary M.
          Chrismer, Irene C.
          Emile-Backer, Magalie
          Razaqyar, M. Sonia
          Elliott, Jeffrey S.
          Kuo, Anna
          Wakim, Paul G.
          Meilleur, Katherine G.
        affil: Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA
      sug:
        subj:
          Calcium Metabolism
          Muscular Diseases Psychosocial Factors
          Acetylcysteine Therapeutic Use
          Quality of Life Psychosocial Factors
          Adult
          Health Status
          Female
          Adaptation, Psychological
          Fatigue Diagnosis
          Coping Strategies Questionnaire
          Scales
          Adult: 19-44 years
          Female
      ab: 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.
      pubtype: Academic Journal
      doctype: Journal Article
      ougenre: Article
    language: English
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