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#apaperaday: Burden of Disease of Duchenne Muscular Dystrophy in Denmark

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Burden of Disease of Duchenne Muscular Dystrophy in Denmark – A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives

Today’s pick is from @journal_nd again by Rudolfsen et al on the burden of disease of Duchenne in Denmark using the incredibly well structured Danish registry system. Note that the focus is on financial burden. DOI: 10.3233/JND-230133

Duchenne is a rare disease, but one of the more common rare disease. As the disease is associated with loss of muscle function, patients loose autonomy progressively and rely on care and healthcare increasingly with age. Survival has increased with good care, but is still limited.

Authors wanted to have an estimate of the healthcare and care costs of Duchenne. For this, they used the Danish registry system, where there is a specific code for Duchenne patients to easily request anonymous information on patients, parents and siblings.

Authors also included controls: 10 Danish individuals for each Duchenne patient or family member matched for age, sex, region and parental or own (for parents) educational level. Patients diagnosed with DMD over 18 years were excluded (likely not Duchenne).

Authors ended up with data for 213 Duchenne patients and 388 parents and 426 children (including Duchenne patients). 26 siblings had Duchenne (i.e. a family with 2 or more Duchenne patients). Mean age of diagnosis was 6 and 5 of the patients were female.

The siblings were mostly older than the Duchenne patients. The median incidence stayed the same, while the prevalence is increasing: this is because patients live longer. Compared to the matched controls, Duchenne patients have a 23 times increased risk of dying.

46 patients did die during the up to 20 year follow up period at an average age of 26.8 years. There were increased needs for hospital care, respiratory care, wheelchair use and scoliosis compared to controls as expected. 86% of patients over 8 years had respiratory failure

On average patients needed a respiratory mask for noninvasive ventilation at age 15. Patients needed more home care and had 60 extra hospital admissions and 200 extra hospital visits over the 20 year follow up compared to controls. Almost all patients were on steroids (7 not)

Authors estimate the costs of the care, summing up to 1.5 million euros for 20 years following diagnosis. Parents in Denmark had the same employment rates as controls. However, Duchenne patients and their siblings have lower and slightly lower participation to the labor market.

Duchenne patients were less likely to have a higher education and special education was more common. This was not the case for the siblings. Note that it is known that Duchenne has learning difficulties as a comorbidity so this is not surprising (authors do not mention this).

Including the costs for special education, authors estimate costs of 450k euro until age 18 and 2.4 million if a patients reaches the age of 30. Authors discuss that this is somewhat comparable with other studies in other countries where usually 50k $/euro per year is noted.

Authors stress that household costs will vary for different countries and will be more limited in Denmark due to an intensive social program available. This may explain the high participation of Danish Duchenne parents to the labor market.

Authors do stress that despite the healthcare provided, still the siblings and the parents will also cope with the impact Duchenne has on their daily living and commend their flexibility (fully agree and good the authors point this out).

Authors outline the limitations: they rely on the data quality of the registry. They do not know whether all DMD indications really are Duchenne and also whether some patients with Duchenne do not have the code and are therefore missed.

Also when calculating the costs, authors used the care costs, and not the costs of equipment and administrative costs. As such, costs are conservative estimates. Furthermore, care has developed over the past 20 years, so the data are a mix of ‘old and new’.

Finally authors mention that this study only looked at the costs and did not look into the impact on quality of life for patients, siblings and parents. They stress that this is something that also needs to be done.

The study was sponsored by Pfizer. These studies are done to justify costs of treatments that ideally reduce care costs. Health economics may seem a specialty devoid of empathy but as each dollar, euro etc can be spent only once & there is a limited supply it has to be done.