Abstract
BackgroundDuchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the symptoms and impacts of nonsense mutation Duchenne muscular dystrophy and experience with ataluren.MethodsQualitative interviews were conducted with caregivers in the UK. Interviews were conducted by telephone, were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.ResultsTen interviews were conducted with parents of individuals aged 4–19 years. Key symptoms included muscle weakness and muscle breakdown, which were associated with limitations in physical function and pain. These impacted individuals’ daily activities, social activities and emotional wellbeing. These concepts and relationships were illustrated in a conceptual model, along with positive and negative moderating factors. Experience with ataluren and changes since initiation with treatment were discussed.ConclusionIndividuals with nonsense mutation Duchenne muscular dystrophy experience a range of interrelated symptoms and functional issues which impact their broader health-related quality of life. Treatments which address this high unmet need have the potential to improve the health-related quality of life of these individuals.
Highlights
Duchenne muscular dystrophy (DMD) is a progressive, X-linked neuromuscular disorder caused by mutations in the dystrophin-encoding DMD gene [1]
Design and participants Qualitative interviews were conducted with caregivers of ambulatory individuals with nonsense mutation in the DMD gene (nmDMD) treated with ataluren in the United Kingdom
The interviews were conducted with caregivers of individuals with nmDMD, as individuals treated with ataluren were either too young or considered by their caregiver to be insufficiently capable to participate in an interview
Summary
Duchenne muscular dystrophy (DMD) is a progressive, X-linked neuromuscular disorder caused by mutations in the dystrophin-encoding DMD gene [1] It is characterised by progressive muscle degeneration, resulting in Treatments for DMD aim to control symptoms and improve health-related quality of life (HRQoL). Ataluren 40 mg/kg/day is the only licensed treatment for nmDMD and is indicated for the treatment of nmDMD in ambulatory individuals aged ≥2 years in member states of the European Union [6] and the UK It enables the proteinmaking apparatus in cells to move past the defect, allowing the cells to produce a functional dystrophin protein, and has been shown to delay loss of ambulation and age at worsening performance in timed function tests [7]. This study explored the symptoms and impacts of nonsense mutation Duchenne muscular dystrophy and experience with ataluren
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