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01-06-2020 | Diseases of the neuromuscular synapses and muscles

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

Authors: Carlos Capella-Peris, Mary M. Cosgrove, Irene C. Chrismer, Magalie Emile-Backer, M. Sonia Razaqyar, Jeffrey S. Elliott, Anna Kuo, Paul G. Wakim, Katherine G. Meilleur

Published in: Quality of Life Research | Issue 6/2020

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.

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Title: Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy
Authors: Carlos Capella-Peris
Mary M. Cosgrove
Irene C. Chrismer
Magalie Emile-Backer
M. Sonia Razaqyar
Jeffrey S. Elliott
Anna Kuo
Paul G. Wakim
Katherine G. Meilleur
Publication date: 01-06-2020
Publisher: Springer International Publishing
Keywords: Diseases of the neuromuscular synapses and muscles
Acetylcysteine
Fatigue
Myopathy
Published in: Quality of Life Research / Issue 6/2020
Print ISSN: 0962-9343
Electronic ISSN: 1573-2649
DOI: https://doi.org/10.1007/s11136-020-02428-2

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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