We sought to describe health care resource utilization (HCRU), including hospitalizations, health care professional (HCP) visits, and device utilization, for children with SMA type 1 (SMA1) in Japan.

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. HCRU data on hospitalizations and ongoing standard multidisciplinary care for SMA1 are sparse.

An online survey was disseminated by the principal investigator and a patient advocacy group (Japan Network for Spinal Muscular Atrophy) from 10/2020–03/2021. Eligible respondents were voluntary non-HCP adult caregivers of patients with SMA type 1, 2, or 3 in Japan. Respondents reported HCRU over the past 6 months.

As of 03/05/2021, 48 caregivers (mean age, 38.7 years) managing 50 SMA1 patients responded. During their lifetimes, 28 patients (56%) underwent gastrostomy and 28 (56%) underwent tracheostomy. Median durations of hospital stays were 17 days for gastrostomy and 35 days for tracheostomy. Within the past 6 months, 37 patients (74%) spent at least one night in the hospital (average number of stays, 2.43; average duration of stay, 5.89 days). Forty-eight patients (96%) visited a pediatrician within the past 6 months, the majority (62.9%) in a hospital setting, with 59.1% reporting monthly visits. Other frequently reported HCP visits were to physiotherapists (82% of cases), non-specialist nurses (76%), and occupational therapists (58%). Frequently used devices or equipment included suction machine (80% of cases), cough assist machine (60%), breathing machine (54%), wheelchair (66%), sitting retainer (66%), and gastric feeding tube (64%).

SMA1 in Japan is associated with substantial HCRU, highlighting the need for ongoing multidisciplinary care in these patients. Early diagnosis, facilitated by newborn screening and timely intervention with disease-modifying treatment, may reduce these burdens and associated costs.