Significant hidden costs revealed in international study of Duchenne muscular dystrophy

In the first international study of its kind, researchers have found that there are many different costs accompanying a rare condition such as Duchenne muscular dystrophy (DMD) and that there is a considerable financial  burden carried by affected families.

The research, published in the journal Neurology, was led by Newcastle University (UK) and the Karolinska Institutet (Sweden) and carried out in collaboration with patient registries for DMD in Germany, Italy, the UK and the United States. Funded by GSK, the aim of the study was to estimate the total cost of illness and the economic burden of DMD.

DMD affects one in 3,500 male births every year. The condition is caused by a faulty gene and the main symptom is severe and progressive muscle weakness, leading to falls and difficulty with motor skills. By the age of twelve most patients need a wheelchair, though treatment with steroids can extend walking ability. Ultimately, patients are unable to look after themselves, and are prone to breathing and heart difficulties which usually result in a life expectancy of around 30 years.

The national DMD registries from the global TREAT-NMD network helped identify the patients with DMD in Germany, Italy, UK, and USA.  Researchers asked 770 patients and their primary caregivers in Germany (173), Italy (122), the UK (191) and the USA (284) to complete a questionnaire on their experience of living with DMD and the impact this had on the need to access medical care, employment, leisure time and quality of life.

Researchers found that there are many different costs accompanying DMD. The analysis of the data showed that the direct cost of the illness across the countries was between eight and sixteen times higher than average health expenditure per person. The study also showed that the indirect and informal care costs were substantial, each constituting between 18% and 43% of total costs.

The burden of Duchenne muscular dystrophy -
An international, cross-sectional study

Bushby K et al.
Neurology® 2014;83:1–8

Read the freely available publication on the Neurology website.

This article is freely available to read on the publisher's website.


Professor Kate Bushby, co-author of the study and one of the founding co-ordinators of the TREAT-NMD Network, said: “Rare diseases are massively underfunded generally and the cost to society is often hidden as so many costs are borne by the family themselves. Our figures show that DMD imposes a severe economic burden on the family and friends of affected people, as well as society as a whole. It is essential that more money is spent trying to find ways of easing this burden on patients and families.”

Olivia Schreiber-Katz, a curator of the German DMD patient registry used in the study, said:  “This study shows important results which could represent the first step towards a systematic health economic assessment of Duchenne muscular dystrophy. These can be used for further analyses and, hopefully, can contribute to a smooth translation of new DMD therapies to their implementation into DMD care. For us, the most important aspect is that the significance of indirect and informal cost was shown. It would be good to see some more detailed discussion and analysis of the reasons why some costs considerably differ in between the analyzed countries, such as differences in DMD care and in national health care systems and how these affect the comparability of the results.”

Fernanda de Angelis, a curator of the Italian DMD Registry, said that “As far as we know, this is the first time that costs other than direct costs have been considered and quantified on an international basis. The estimation of indirect and intangible costs presented in the study strongly indicate that they should definitely be considered by national authorities’ social and health intervention programmes”.

Diana Ribeiro, a representative from Action Duchenne, who run the UK patient registry used in the study, said: “This highlights the significant burden of living with Duchenne muscular dystrophy on individual families in the UK, as well as the hidden costs to society as a whole with many carers providing unpaid care and unable to continue in full-time employment. It sends a powerful message that our healthcare policymakers must not only help to support families affected by the condition, but also invest in research which will lead to treatments in the future.”

Holly Peay, Director of the DuchenneConnect Registry in the USA, said: “Outcomes from the study about the costs related to caring for Duchenne muscular dystrophy and the more global impact on families are important and meaningful for informing future care and support of people and families with Duchenne. Recognizing the complete economic context of Duchenne is crucial to fully understand the potential impact of new therapies, and may inform evidence-based health policies, including reimbursement for treatment costs. We appreciate the participation of DuchenneConnect’s United States families in this important study.”

The results underline that there are many different costs accompanying a rare condition such as DMD, and that there is a considerable economic burden carried by affected families. The previously unknown economic context of a rare disease can serve an important role for the health policy evaluations of intervention programs and novel therapies, financial support schemes for patients and their families, and the design of future cost studies.

For more information, please contact the TREAT-NMD Office on +44 (0) 191 241 8617 or e-mail

12 Apr 2017