Clinical, Economic, and Humanistic Burden of Duchenne Muscular Dystrophy – A Targeted Literature Review


Clinical Management

Poster Number: Virtual


Alex Simpson, Msc, Pharmaceuticals Division, Global Access-Evidence Chapter, F. Hoffmann-La Roche Ltd, Switzerland, Conor McCloskey, PhD, Clarivate, UK, Roberto Bonemei, MSc, Clarivate, UK, Sunita Nair, PhD, Clarivate, India, Maria João Garcia, PharmD, Pharmaceuticals Division, Global Access-Evidence Chapter, F. Hoffmann-La Roche Ltd, Switzerland

Duchenne muscular dystrophy (DMD) is a neuromuscular disorder characterised by progressive muscular damage and degeneration. This targeted literature review aimed at understanding the burden of DMD.

MEDLINE, Embase and the Cochrane Library databases were searched in August 2022 to identify studies reporting data for the epidemiology, and the clinical, humanistic, and economic burden of DMD. Citations were screened by a single analyst to assess eligibility based on predefined selection criteria. Relevant data from included studies were extracted into pre-designed data extraction tables.

The search strategy identified a total of 3,577 citations, of which 88 were included for data extraction and synthesis. The prevalence of DMD in the US population ranged from 1.18 to 1.60 per 10,000 males. Patients were diagnosed as early as 3 years old; loss of ambulation occurred around the age of 10, while other milestones were reached in the teenage years. Lower/upper limb and facial weakness were common physical symptoms with stiffness, fatigue, muscle contractures, and low-speech volume having a meaningful impact on daily living in at least 25% of patients. Patients with DMD required regular monitoring of respiratory function, cardiology, and neuromuscular assessments. Significantly lower PedsQL scores were recorded in children with DMD compared with controls. A number of studies also described the humanistic burden in caregivers, which manifested as greater parenting stress, depression and impacts on hobbies, household activities, and having financial difficulties. Non-medical and indirect costs constituted a large proportion of total economic burden, adding to the substantial direct medical costs, which increased with disease progression.

The clinical, economic, and humanistic disease burden in patients with DMD and their caregivers is substantial. There is a considerable need for treatments that can slow or prevent disease progression thus improving the outlook for patients with DMD and their families.