Perceived Impact of Vosoritide on Health-Related Quality of Life in Children with Selected Genetic Causes of Short Stature: A Qualitative Study of Children and Caregivers.

INTRODUCTION: Short stature resulting from genetic conditions is associated with various emotional, physical, and social challenges resulting in significantly lower health-related quality of life. There are minimal qualitative data available on this topic. METHODS: We performed a cross-sectional, remote, qualitative interview study targeting children receiving vosoritide for >2 years as part of a clinical trial and their caregivers. Interviews assessed participants' daily experiences of short stature and the impact of vosoritide on HRQoL. Principles of thematic analysis with features from grounded theory-guided coding and analysis of interviews. RESULTS: Twenty-one caregivers and 14 child participants from 20 families were interviewed. Child participants were ages 8 to 15 years (M=10.2). Four conditions were represented in the sample (12 hypochondroplasia, 4 NPR2 mutation, 2 ACAN mutation, 2 Noonan syndrome). At baseline, short stature had significant impacts on physical, social, and daily activities domains. After starting vosoritide, changes were most reported for impacts on daily activities by both caregiver (74%) and child (100%) participants. Most reported were "improved ability to reach things" (12 caregivers and 14 children) and "being more independent/needing less assistance" (9 caregivers and 5 children). CONCLUSION: Genetic short stature significantly impacts health-related quality of life, as reported by both children and their caregivers. Both children and caregivers noted emotional, physical, and social impacts as well as impacts on daily activities. Vosoritide treatment was associated with meaningful improvements in physical impacts and impacts on daily activities.