The burden of Duchenne muscular dystrophy

Abstract

Objective:The objective of this study was to estimate the total cost of illness and economic burden of Duchenne muscular dystrophy (DMD).Methods:Patients with DMD from Germany, Italy, United Kingdom, and United States were identified through Translational Research in Europe–Assessment & Treatment of Neuromuscular Diseases registries and invited to complete a questionnaire online together with a caregiver. Data on health care use, quality of life, work status, informal care, and household expenses were collected to estimate costs of DMD from the perspective of society and caregiver households.Results:A total of 770 patients (173 German, 122 Italian, 191 from the United Kingdom, and 284 from the United States) completed the questionnaire. Mean per-patient annual direct cost of illness was estimated at between $23,920 and $54,270 (2012 international dollars), 7 to 16 times higher than the mean per-capita health expenditure in these countries. Indirect and informal care costs were substantial, each constituting between 18% and 43% of total costs. The total societal burden was estimated at between $80,120 and $120,910 per patient and annum, and increased markedly with disease progression. The corresponding household burden was estimated at between $58,440 and $71,900.Conclusions:We show that DMD is associated with a substantial economic burden. Our results underscore the many different costs accompanying a rare condition such as DMD and the considerable economic burden carried by affected families. Our description of the previously unknown economic context of a rare disease serves as important intelligence input to health policy evaluations of intervention programs and novel therapies, financial support schemes for patients and their families, and the design of future cost studies.

Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe

“…Indeed patients may not remember their use of healthcare resources accurately and may simply guess, leading to an under-or overestimation of costs [14]. It should also be noted that some of the cost estimations may have been more sensitive than others to recall bias as patients are more likely to remember large or recurrent expenses than small or rare ones [57]. The use of an online questionnaire may also skew the patient or caregiver population towards younger, better educated, healthier and wealthier individuals with easy access to the Internet, and we cannot therefore rule out a degree of selection bias in our study.…”

Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation

“…Duchenne muscular dystrophy (DMD) and the less severe form Becker muscular dystrophy (BMD) comprise the most common forms of muscular dystrophies with approximate 1:5000 boys [1]. They are caused by mutations in the largest human gene encoding dystrophin protein spanning 79 exons on chromosome Xp21 which makes full gene assessment difficult and time consuming.…”

Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation

“…From around 8 years of age, the median age of boys entering our study, families will typically make investments in and reconstructions of the home, for instance making adaptations for wheelchair accessibility. 24 Adaptations may also be required to educational facilities. A systematic review of the cost of illness 4 noted only three studies that reported cost-impact data, all of which were > 20 years old.…”

“…A systematic review of the cost of illness 4 noted only three studies that reported cost-impact data, all of which were > 20 years old. [25][26][27] However, a questionnaire study 24 involving people with DMD in Germany, Italy, the UK and the USA provided per-patient annual costs of DMD in 2012 in international dollars. The questionnaire elicited information about hospital admissions, visits to health-care professionals, tests, assessments, medications, non-medical community services, aids, devices, alterations to the home and informal care.…”