We sought to describe out-of-pocket expenditures and time costs, as well as health care resource utilization (HCRU), for the families/caregivers of patients with SMA1. Here, we present initial data reporting caregiver burden in the US. 

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. Data on caregiver burden associated with SMA1 are sparse.

An online survey was disseminated by a patient advocacy group (Cure SMA) in the US in 07/2020. Eligible respondents were voluntary adult caregivers (non-health care professionals). 

Interim analysis represents data as of 02/2021. Thirty caregivers (mean age, 37.13 years) who cared for 31 patients with SMA1 responded. In 25/31 cases (80.65%), the patient’s mother was the primary or co-primary caregiver. Mean patient care time was 85.13 hours/week. Of the 31 patients, 15 (48.39%) had a caregiver who stopped working to provide care; 10 (32.26%) had a caregiver who reduced their working hours (mean reduction, 17.73 hours/week); one (3.23%) had a caregiver who changed jobs. Impact to income was reported by 22 caregivers (70.97%; median net income reduction, $2650/month). Mean out-of-pocket costs over the last 6 months toward home renovations, at-home health care, and travel for medical appointments were $8600.03, $677.42, and $700.97, respectively. Within the last 6 months, four patients (12.9%) had ≥1 overnight hospitalizations (the majority for respiratory infection/breathing difficulties).

Caregivers of patients with SMA1 in the US reported a substantial burden on their time, employment status, income, and out-of-pocket costs. Lost productivity and HCRU associated with SMA1 imposed greater 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 to describe caregiver burden globally is ongoing.