Presentation (CTI)

OBJECTIVES: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by skeletal fragility and increased fracture risk resulting in clinical and healthcare resource utilization (HCRU) burden. Management of OI is complex, potentially influencing differences in patient HCRU patterns. This study aims to characterize HCRU patterns and their drivers among patients with OI.
METHODS: A proprietary AI and natural language processing platform searched, analyzed, and reviewed the Amplity AnswerY™ real-world database, comprised of HIPAA-compliant, US-based transcribed physician notes for patients with a mentioned diagnosis of OI from 2017-2025. HCRU was defined as mentions of or related to emergency room (ER) use, hospitalizations, and outpatient visits. These data are reported descriptively. Insights regarding HCRU drivers identified are reported qualitatively.
RESULTS: AnswerY identified 2545 patients with OI. The mean age of this population was 37.8 years, and 88% of patients with known race were White. For all patients, data indicated high HCRU spanning ER visits, inpatient hospital stays, surgeries, rehabilitation/skilled nursing facility stays, and long-term outpatient care. From analysis of the overall cohort, 2 subgroups were identified based on HCRU. A lower severity subgroup (n=446) experienced lower HCRU with periodic specialist visits, whereas a higher severity subgroup (n=1817) experienced high rates of recurrent fractures, multiple surgeries, and multidisciplinary outpatient/post-acute care. The higher severity subgroup had higher rates of patients with ≥1 documented OI-associated ER visits (33.4% vs 11.9%) and hospitalizations (51.6% vs 6.1%). Across both subgroups, hospitalization drivers were primarily related to fractures and deformity corrections, consistent with drivers of ER visits. Hospitalization drivers in the high-severity group additionally included respiratory, cardiac, and postoperative complications.
CONCLUSIONS: Based on AnswerY, patients with OI have a high HCRU burden driven directly by the disease and indirectly through complications. However, HCRU and severity may differ, highlighting the benefit of early interventions in improving patient care among high-burden subgroups.