OBJECTIVES: The IMPACT Survey aimed to collect the most comprehensive self-reported dataset on OI, a rare hereditary connective tissue disorder associated with low bone mass, bone fragility and deformities, and variable secondary features, e.g. hearing loss and cardiac or pulmonary conditions. As few large datasets describe the experience of individuals with OI, the survey explored the impact of OI on QoL domains and worries of adults with OI.

METHODS: Together with the Osteogenesis Imperfecta Federation Europe and the Osteogenesis Imperfecta Foundation (USA) we have developed an international survey in eight languages. It was fielded online (July-September 2021) and aimed at adults (aged ≥18 years) or adolescents (aged ≥12–17 years) with OI, caregivers (with or without OI) of children or adults with OI and other close relatives; overall 2,278 individuals participated. Questions covered the patient healthcare journey, worries, impact on individuals, their families, and finances. Non-English language responses were translated into English. Data were cleaned, coded, and analysed using StataSE 17.0.

RESULTS: 1,291 adults with OI who were not caregivers for children with OI participated (69.8% female, mean age 40.8 years). They described their OI as mild (33.5%), moderate (47.0%) or severe (15.4%). In the past 12 months, respondents perceived any (very mild to severe) impact of OI on their leisure activities (84.0%), job choices (74.1%), social life (72.7%), happiness (69.9%), mental health (65.5%) and working hours (64.1%). Most participants experienced some level of worry about the impact of aging (91.9%), future fractures (88.7%), mobility loss (88.1%), additional OI complications (86.4%) and loss of ability to selfcare (83.4%).

CONCLUSIONS: Adults with OI are impacted by their condition across QoL domains and worry about its progression. Further analysis will elucidate the support needs of adults with OI and help to shape treatment, care, and policy making.