Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy.
Carlos Capella-PerisMary M CosgroveIrene C ChrismerMagalie Emile-BackerM Sonia RazaqyarJeffrey S ElliottAnna KuoPaul G WakimKatherine G MeilleurPublished in: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation (2020)
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.