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 OI-related conditions and their impact.

METHODS: Together with the Osteogenesis Imperfecta Federation Europe and the Osteogenesis Imperfecta Foundation (USA) we 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: 1,439 adults with OI (70% female, mean age 41.1 years) described their OI as mild (35.2%), moderate (46.5%) or severe (14.3%). In the past 12 months, the most common conditions experienced by the cohort were pain (81.6%), ranked by 55.8% of the cohort as moderately or severely impactful, fatigue (66.7%), by 46.4%, and soft tissue problems (incl. muscle, tendon, ligament; 54.6%), by 39.1%. Of all conditions experienced in the past 12 months, mental health issues was most commonly ranked as moderately or severely impactful (by 77.5% of those experiencing the condition), followed by reproductive health issues (76.3%), sleep disturbance (72.8%) and soft tissue problems (71.5%).

CONCLUSIONS: Adults with OI experience and are affected by various OI-related conditions beyond bone problems. Further analysis will elucidate the impact of this complex condition and provide insights into areas of improvement of treatment, care and policy making.