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Lookup NU author(s): Dr Renae StefanettiORCiD, Professor Grainne Gorman
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025Background: Fatigue is a debilitating symptom in patients with primary mitochondrial disease nPMD). Developing new treatments that improve fatigue is a patient priority but is hampered by a lack of fit-for-purpose patient-reported outcome measures (PROMs). We aimed to understand the impact of fatigue on the lives of people with PMD and develop a brief PMD-specific PROM to evaluate fatigue in clinical trials. Methods: Adults with genetically confirmed PMD and self-reported moderate-to-severe fatigue and myopathy/exercise intolerance participated in a concept elicitation interview to explore their experiences of fatigue. Interview transcripts were coded thematically using MAXQDA™. Characteristics and impacts that emerged from the interviews were mapped to items in the PROMIS® Fatigue item bank. Participants then engaged in a cognitive interview to assess relevance and understandability of PROMIS Fatigue items considered for the PROM. Results: Twelve adults with PMD (n = 8 women, age 20–75 years) were interviewed. The most frequently reported characteristics of fatigue included tiredness, muscle weakness/fatigue, exhaustion, lack of energy, and mental fatigue. Fatigue affected patients' ability to perform daily life activities, including household chores, leisure activities, physical activity/exercise, and work/school, and negatively affected mood and relationships. Nine items were included in the final PROM based on level of endorsement of underlying concepts elicited by the concept elicitation interviews and relevance, clarity, and ease of answering, as assessed in the cognitive interviews. Conclusion: The nine-item PROMIS Fatigue Mitochondrial Disease Short Form is the first PROM designed specifically to assess fatigue in PMD. This study demonstrates the content validity of the short form, and future longitudinal studies will assess its psychometric properties.
Author(s): Clifford S, Stefanetti RJ, Bahar R, Hansson MJ, Gorman GS, Karaa A
Publication type: Article
Publication status: Published
Journal: Molecular Genetics and Metabolism
Year: 2025
Volume: 145
Issue: 4
Print publication date: 01/08/2025
Online publication date: 26/05/2025
Acceptance date: 16/05/2025
Date deposited: 09/06/2025
ISSN (print): 1096-7192
ISSN (electronic): 1096-7206
Publisher: Academic Press Inc.
URL: https://doi.org/10.1016/j.ymgme.2025.109153
DOI: 10.1016/j.ymgme.2025.109153
Data Access Statement: Data will be made available on request
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