OBJECTIVES: SMA1, a rare, genetic neuromuscular disease that causes loss of both voluntary motor and bulbar functions, is usually fatal by 2 years of age if untreated. As data on caregiver burden associated with SMA1 are sparse, we sought to describe out-of-pocket expenditures and time costs for the families/caregivers of these patients, as well as healthcare resource use (HCRU). Here, we present initial data reflecting caregiver burden in Japan.

METHODS: An online survey was disseminated by a patient advocacy group (Japan Network for Spinal Muscular Atrophy) and the principal investigator from 10/2020–03/2021. Eligible respondents were voluntary non-healthcare professional adult caregivers.

RESULTS: Forty-eight caregivers (mean age, 38.7 years) managing 50 patients with SMA1 responded. In 40/50 cases (80%), the patient’s mother was the primary caregiver. Mean patient care time was 57.24 hours/week. Of the 50 patients, 35 (70%) had a caregiver who stopped working in order to provide care; eight (16%) had a caregiver who reduced their working hours; three (6%) had a caregiver who changed jobs. Forty-nine (98%) received government subsidies. Impact to income was reported by caregivers representing 36 patients (72%; mean net monthly income reduction, ¥152,223). Mean out-of-pocket costs over the last 6 months were ¥817,670, of which 42% went toward home adaptations, at-home healthcare, and travel for medical appointments. Within the last 6 months, 37 patients (74%) had ≥1 overnight hospitalization (the majority for receiving SMA treatment or for respiratory infection/breathing difficulties).

CONCLUSIONS: Caregivers of patients with SMA1 in Japan reported a substantial burden on their time, employment status, income, and out-of-pocket costs. Lost productivity and HCRU associated with SMA1 impose high direct and indirect societal burdens. Early SMA identification via newborn screening and early access to disease-modifying treatments may reduce these burdens and associated costs. Additional work is ongoing to describe caregiver burden globally.