Quality of life and informal care burden associated with duchenne muscular dystrophy in Portugal: the COIDUCH study.

BACKGROUND: To describe the reduced health-related quality of life (HRQoL) of duchenne muscular dystrophy (DMD) patients and their caregiver burden and to present its relationship with disease progression. METHODS: This cross-sectional study assessed patient HRQoL with the 3-level version of the EuroQol-5D (EQ-5D-3L) and caregiver burden with the Work Productivity and Activity Impairment: General Health questionnaire. DMD patients and their caregivers were identified through Portuguese Neuromuscular Association (APN). RESULTS: A total of 46 DMD main caregivers, of eight ambulant and 38 non-ambulant patients, completed the questionnaires. Over half (58.7%) of all non-ambulant patients were on ventilation support, either full-time (15.2%) or non full-time (43.5%). Non-ambulant patients had a lower mean utility scores than ambulant patients (- 0.05 versus 0.51, p value < 0.001). Caregivers of non-ambulant patients reported a significant mean daily activity impairment as compared to caregivers of ambulant patients (68% versus 23%, p value < 0.001). Among non-ambulant patients, both utility scores and caregiver impairment appeared to deteriorate according to a higher need for ventilation support, however, these results were not statistically significant. CONCLUSIONS: These results emphasise the significant negative impact that DMD progression has on the patient HRQoL, as well as caregivers' ability to conduct their daily activities. Therapeutic options that stop or slow the disease progression could have a beneficial impact for both patients and caregivers.

Cost of Illness in Patients with Duchenne Muscular Dystrophy in Portugal: The COIDUCH Study.

OBJECTIVE: The aim of this study was to estimate the cost of illness (COI) of Duchenne muscular dystrophy (DMD) and its relation to disease progression, using age as a proxy, and according to the ambulatory status of patients. METHODS: We conducted a cross-sectional study of patients diagnosed with DMD identified through the Portuguese Neuromuscular Patients Association (APN). Data regarding patient and caregiver demographics, patient health status, resource utilization and cost, and informal care were collected using a custom semistructured questionnaire. Labor productivity and absenteeism losses were captured using the Work Productivity and Activity Impairment questionnaire. Costs were valued using a societal perspective. RESULTS: A total of 46 patient-caregiver pairs were included, of which eight of the patients were ambulant and 38 were nonambulant. Age had a decreasing effect on COI, independent of the patient's disease stage. Annualized lifetime costs were at their highest in nonambulant patients around the mean age of loss of ambulation (10 years of age). The mean per patient stage-specific costs (year 2019 values) of DMD were estimated at €48,991 in the nonambulant stage and €19,993 in the ambulant stage. Direct nonmedical costs were the main cost drivers, followed by indirect costs. CONCLUSIONS: Our results indicate a close relation between overall disease costs and disease progression. DMD is associated with a substantial economic burden, which appears to be larger around the time ambulation is lost (10 years of age). The availability of new therapeutic options that delay disease progression, especially loss of ambulation, may prove to be highly beneficial for not only patients with DMD but also their families and society.