A cost analysis of Machado-Joseph’s disease (MJD)

A rare disease is that with a low prevalence in the population. However, it is estimated that there are between 6,000 and 8,000 different types of rare diseases in the world and, generally, they are incurable and deadly. Machado-Joseph's disease (MJD) is one of these cases; of genetic origin, autosomal dominant, with a high chance of transmission between generations and without curative treatment. Given the specificities of MJD and the lack of economic studies associated with it, this article aims to estimate the direct and indirect health-related costs of lost productivity attributable to Machado-Joseph's Disease. The data used were primarily collected at the Hospital de Clínicas de Porto Alegre (HCPA), during the period between October 2019 and March 2020. The bottom-up cost methodology was used, that is to say, to estimate costs across a sample of patients to produce an annual cost per patient. Among the main results, it was found that 90.8% of the sample does not work and of these, 72.73% reported that the reason they had stopped working was due to Machado-Joseph's disease. The average age of men when they stopped working was 39.05 years of age and for women it was 39.64 years of age. In relation to direct non-medical costs, with rehabilitation and transport, it was found that these items affect about 32% of men's income and 36% of women's income, as well as medication and diapers costs affect about 15% of women's income and 14% of the income of men who are no longer able to work. The study also showed that 50% of caregivers, who are generally close relatives of the patient, do not work. Of these, 33.3% reported having left the labor market to provide assistance to the patient, which means that the cost for families is even higher than that estimated for the patient.