Characterization of Fatigue in Primary Mitochondrial Myopathies: Findings From a Qualitative Interview Study.

Background and Objectives

Primary mitochondrial myopathies are genetic disorders that primarily affect peripheral skeletal muscles. Patients with primary mitochondrial myopathies often experience muscle weakness, fatigue, and other significant impacts on health-related quality of life. The aim of this noninterventional qualitative study was to collect the most bothersome fatigue-related symptoms and impacts reported by patients with primary mitochondrial myopathies and determine whether the questions included in an existing patient-reported outcome measure, the Modified Fatigue Impact Scale, are relevant and interpretable for this population.

Methods

The interviews contained a concept elicitation exercise to understand the most bothersome primary mitochondrial myopathies symptoms and impacts and a cognitive debriefing section to review the questions included in the Modified Fatigue Impact Scale for relevance and interpretability. Transcripts were coded using ATLAS.ti software.

Results

Interviews were conducted with 16 patients who were aged 16 years and older with a genetically confirmed and clinical diagnosis of symptomatic primary mitochondrial myopathies. Concept elicitation interviews established that while patients with mitochondrial myopathies reported a wide variety of symptoms and impacts, one of the most impactful symptoms discussed was fatigue. Cognitive debriefing interview results confirmed that the Modified Fatigue Impact Scale items were relevant, were interpretable, and largely captured patients' experience with fatigue.

Discussion

Fatigue was one of the most widely discussed experiences discussed by participants and was considered the most important symptom/impact to treat by most of the participants. The Modified Fatigue Impact Scale could be used in future clinical trials to measure treatment benefit in fatigue-related impacts.

Informations de copyright

Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

N. Johnson and I. Clarkson are employees of Endpoint Outcomes. Endpoint Outcomes was paid by Reneo Pharmaceuticals to conduct this research. W. Newman and A. Dorenbaum are employees of Reneo Pharmaceuticals. A. Karaa and B.H. Cohen received consulting fees from Reneo for other studies not associated with this research. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp. TAKE-HOME POINTS → Qualitative interviews were conducted with patients with primary mitochondrial myopathies to understand fatigue-related symptoms and impacts.→ Of all symptoms discussed, patients most frequently reported experiencing fatigue and considered it one of the most bothersome aspects of PMM.→ Patients experience significant limitations in physical activities and require frequent rest because of fatigue.→ Patient fatigue can be self-reported and measured over the course of a clinical intervention using the Modified Fatigue Impact Scale.