The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults

Abstract

Background: The IMPACT Survey explored the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers and wider society. Two previous publications report research methodology, initial insights of the survey, and cost of illness of OI. Here we present data on the impact of OI on the quality of life (QoL) of adults with OI and explore potential drivers of this impact. Methods: The IMPACT Survey was an international mixed methods online survey in eight languages (fielded July–September 2021), aimed at adults (aged ≥18 years) or adolescents (aged 12–17 years) with OI, caregivers (with or without OI) of individuals with OI and other close relatives. Survey domains included demographics, socioeconomic factors, clinical characteristics, treatment patterns, QoL, and health economics. We conducted a descriptive analysis of the QoL data, as well as exploratory regression analyses to identify independent associations between patient characteristics, and the impact on QoL in adults with OI (henceforth called drivers). Results: Between 49–84% of the 1,440 adults with OI who participated in the survey reported that OI impacted their QoL across physical, socioeconomic and mental well-being domains. For instance, 84% of adults reported an impact of OI on the types of leisure activities they could do, and 74% on the type of job they could do. Drivers of impact on QoL included having more severe OI and a higher frequency of fractures. Additionally, between 31–97% reported worrying about different aspects of their lives due to their OI, such as mobility loss, future fractures and ageing. Conclusion: IMPACT provides insights into the humanistic burden of OI on adults, revealing that OI has a substantial impact on the QoL of adults. OI severity and fracture frequency were consistently identified as drivers of impact on QoL across all domains. Understanding these drivers may aid in identifying areas for targeted interventions, such as fracture prevention.