Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

Journal of Patient-Reported Outcomes

Kate Williams¹  Sarah Acaster¹  Axel Boehnke²  Ian Davidson³  Mark Rance³  Katharina Buesch⁴ 

[1] Acaster Lloyd Consulting Ltd, 16 Upper Woburn Place, WC1H 0BS, London, UK;PTC Therapeutics Germany GmbH, Am Flughafen 1, 60549, Frankfurt am Main, Germany;PTC Therapeutics Ltd, Building 2, Ground Floor, Guildford Business Park, Guildford, UK;PTC Therapeutics Switzerland GmbH, Tower 2, Turmstrasse 28, CH-6312, Steinhausen/Zug, Switzerland;

关键词: Duchenne muscular dystrophy;    Nonsense mutation;    Qualitative;    Conceptual model;    Symptoms;    Ataluren;   

DOI  :  10.1186/s41687-021-00341-x

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY