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.
Vosoritide may improve daily activities and independence in children with genetic short stature, according to qualitative reports from children and caregivers.
Where it sits
this study against the rest of the vosoritide corpusSummary and findings
This study qualitatively assessed the impact of vosoritide on health-related quality of life in children with genetic short stature and their caregivers. Interviews were conducted with 21 caregivers and 14 children who had been receiving vosoritide for over two years. Improvements were reported in daily activities, particularly in the ability to reach things and increased independence.
Abstract
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.
Background
Short stature due to genetic conditions can significantly affect health-related quality of life, impacting emotional, physical, and social domains. There is limited qualitative data on how treatments like vosoritide might influence these outcomes. This study aims to fill that gap by exploring the perceived impact of vosoritide on children with genetic short stature and their caregivers.
Methods
This was a cross-sectional, remote, qualitative interview study involving children receiving vosoritide for over two years and their caregivers. The study used thematic analysis with grounded theory principles to code and analyze interviews. Participants included 21 caregivers and 14 children from 20 families, representing four genetic conditions.
Results
The primary finding was that vosoritide treatment was associated with improvements in daily activities, as reported by 74% of caregivers and 100% of children. Specific improvements included the ability to reach things (reported by 12 caregivers and 14 children) and increased independence (reported by 9 caregivers and 5 children).
Interpretation
The study suggests that vosoritide may have a positive impact on daily activities for children with genetic short stature, though the findings are based on subjective reports. The improvements in physical capabilities and independence are consistent with the intended effects of vosoritide, but the small sample size and qualitative nature limit the ability to generalize these results. Further quantitative research could help validate these findings.
Key findings
- 21 caregivers and 14 child participants from 20 families were interviewed.
- Child participants were ages 8 to 15 years (M=10.2).
- Conditions represented: 12 hypochondroplasia, 4 NPR2 mutation, 2 ACAN mutation, 2 Noonan syndrome.
- 74% of caregivers and 100% of children reported changes in daily activities.
- 12 caregivers and 14 children noted improved ability to reach things.
- 9 caregivers and 5 children reported increased independence.
Limitations
- Qualitative study with self-reported data.
- Small sample size of 21 caregivers and 14 children.
- Specific to certain genetic conditions.
- No quantitative measures of HRQoL.
- Potential bias in self-reported outcomes.