OBJECTIVES: The IMPACT Survey explored the clinical, humanistic, and economic impact of osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, bone fragility and deformities, and variable secondary features. Here we present global findings from self-reported data on productivity losses associated with OI in adults.

METHODS: Together with the Osteogenesis Imperfecta Federation Europe and the Osteogenesis Imperfecta Foundation (USA) we developed an international survey in eight languages (fielded online July–September 2021). The survey was open to 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. Non-English language responses were translated into English. Data were cleaned, coded, and analysed using Microsoft Excel.

RESULTS: Among, 2,000 adult respondents (1,290 non-caregivers with OI, 150 caregivers with OI, and 560 caregivers without OI), 57–66% were in paid employment (including full-time, part-time or self-employment). Fewer adults with severe OI were in any paid employment or full-time employment (49% and 24%, respectively) compared with those with moderate (53% and 32%) or mild OI (69% and 44%). Among non-caregiver adults with OI and caregiver adults with OI, 15% and 8% were retired due to their disability. On average non-caregiver adults with OI, caregivers with OI and caregivers without OI missed 1.6 (standard deviation [SD] 4.6), 1.8 (SD 5.4) and 1.9 (SD 3.9) workdays in the past 4 weeks. Average missed workdays trended higher among adults with moderate OI (2.5, SD 6.5) and caregivers (without OI) of children with OI (2.5, SD 4.3).

CONCLUSIONS: OI affects the productivity of individuals with OI and their caregivers and limits their ability to pursue paid employment.