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A cost analysis of Machado-Joseph's disease (MJD)
Cristiane da Silva1, Marco Tulio Aniceto França2, Giácomo Balbinotto Neto3
1Polytechnic School, Undergraduate Academic Unit, University of Vale do Rio dos Sinos, São Leopoldo, Rio Grande do Sul, Brazil.
Abstract:
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.
Insights
Machado-Joseph's disease (MJD) significantly impacts productivity, with most patients unable to work. This rare genetic disorder incurs substantial costs for patients and caregivers, affecting income and daily life.
Area of Science:
- Neurology
- Genetics
- Public Health
- Health Economics
Background:
- Machado-Joseph's disease (MJD) is a rare, autosomal dominant, genetic neurodegenerative disorder.
- MJD is characterized by its progressive nature and lack of curative treatment, leading to significant disability.
- Economic studies on the cost of MJD are scarce, necessitating an evaluation of its financial burden.
Purpose of the Study:
- To estimate the direct and indirect health-related costs associated with lost productivity due to Machado-Joseph's Disease.
- To quantify the economic impact of MJD on patients and their families.
- To provide data for future economic analyses and policy-making related to rare diseases.
Main Methods:
- A bottom-up cost methodology was employed, calculating annual costs per patient.
- Data were collected from a sample of MJD patients at Hospital de Clínicas de Porto Alegre (HCPA) between October 2019 and March 2020.
- Patient and caregiver work status, income, and direct non-medical costs were assessed.
Main Results:
- 90.8% of the MJD patient sample were not employed, with 72.73% citing MJD as the reason for cessation of work.
- Patients stopped working at an average age of 39.05 for men and 39.64 for women.
- Direct non-medical costs (rehabilitation, transport, medication, diapers) represented a significant portion of income for both patients and caregivers, with 50% of caregivers also not working due to caregiving responsibilities.
Conclusions:
- Machado-Joseph's disease imposes a substantial economic burden on patients and families due to lost productivity and direct costs.
- The findings highlight the need for comprehensive support systems and economic evaluations for rare, debilitating diseases like MJD.
- The study underscores the significant impact of MJD on the working-age population and the hidden costs borne by caregivers.
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