Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy.

The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use. Communication; family relationships; physical, emotional, social, and cognitive functioning; and daily activities were measured using Pediatric Quality of Life modules (Family Impact Modules and both Patient and Proxy Neuromuscular-Specific Reports) pre- and post-nusinersen exposure. A total of 35 patients with SMA (15 Type 1, 14 Type 2, and 6 Type 3) were grouped according to nusinersen exposure. When analyzed as a whole cross-sectional clinical population, no significant differences were found between the initial and final surveys. Nusinersen therapy was associated with improved communication and emotional functioning in subsets of the population, particularly for patients on maintenance therapy for longer duration. Several unexpected potentially negative findings including increases in family resources and trends towards increases in worry warrant further consideration. Further research is warranted to explore the impact of novel pharmaceuticals on quality of life for children with SMA longitudinally to optimize clinical and psychosocial outcomes.