Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Jun;29(6):1641-1653.
doi: 10.1007/s11136-020-02428-2. Epub 2020 Feb 10.

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

Carlos Capella-Peris  1 , Mary M Cosgrove  2 , Irene C Chrismer  2 , Magalie Emile-Backer  2 , M Sonia Razaqyar  2 , Jeffrey S Elliott  2 , Anna Kuo  2 , Paul G Wakim  3 , Katherine G Meilleur  2
Affiliations

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

Carlos Capella-Peris et al. Qual Life Res. 2020 Jun.

Erratum in

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.

Keywords: Clinical trial; Health-Related Quality of Life; Mixed methods; Natural history study; Neuromuscular disorders.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest:

The authors declare that they have no conflicts of interest.

Figures

Figure 1.
Figure 1.
Consort diagram of study flow
Figure 2.
Figure 2.. Data transformation results for global and domain analyses (N=107).
Total count (whole bar), average (A), global percentage for each domain (G), and domain percentage for each subdomain (D) are displayed. The percentages were normalized for the number of subdomains in each domain and given that post-intervention comments were only recorded on post-intervention interviews.
Figure 3.
Figure 3.. Word cloud summarizing word frequency analysis.
Larger font sizes indicate a higher frequency of mentions; smaller font sizes a lower frequency.
See this image and copyright information in PMC

References

    1. U.S. Food and Drug Administration. (2009). Guidance for industry patient-reported outcome measures: use in medical product development to support labeling claims. Rockville, MD: 10.1111/j.1524-4733.2009.00609.x - DOI - PMC - PubMed
    1. U.S. Food and Drug Administration. (2018). Patient-focused drug development: collecting comprehensive and representative input. Rockville, MD.
    1. U.S. Food and Drug Administration. (2019). Patient-focused drug development: methods to identify what is important to patients. Rockville, MD.
    1. U.S. Food and Drug Administration. (2019). Rare diseases: common issues in drug development. Guidance for industry Rockville, MD: 10.1186/s13045-014-0070-8 - DOI
    1. Ferrans CE, & Powers MJ (1985). Quality of life index: development and psychometric properties. Advances in Nursing Science, 8(1), 15–24. 10.1097/00012272-198510000-00005 - DOI - PubMed

Substances