ESPE Abstracts

Objectives: Osteogenesis imperfecta (OI) is a skeletal dysplasia affecting 1–2 individuals per 20,000 live births, but the burden of disease in children and adolescents remains unclear. We assessed the clinical and healthcare resource utilization (HCRU) burden of OI in US clinical practice.

Methods: This retrospective cohort study included children and adolescents (aged ≤19 years) with OI (≥1 inpatient claim, or ≥2 claims, on distinct days in any other setting, with ICD-10 codes for OI) in Optum’s de-identified Clinformatics^® Data Mart Database (01-Oct-2015 to 30-Nov-2023). Patients were required to have ≥24 months of continuous healthcare plan enrolment. Observation period was 24 months after first observed OI diagnosis (index). If patients had <24-month continuous enrolment after diagnosis, the enrolment period was extended to precede the diagnosis. Skeletal and non-skeletal complications, fractures, and HCRU encounters (outpatient, emergency room [ER], and inpatient visits relating to pre-specified complications deemed to be associated with OI) were assessed in patients with OI and matched non-OI controls (matched 1:5 on age, sex, and index date). Means and proportions were compared using t-tests and Chi-square tests, respectively. Incidence rate ratios (IRRs) and corresponding confidence intervals were calculated using generalized linear models.

Results: Children and adolescents with OI (n = 324) were matched with non-OI controls (n = 1620) (mean [SD] age: 9.4 [5.5] vs 9.4 [5.4] years; 47.2% females; mean [SD] follow-up: 45.6 [23.4] months; all P = 1.00), and the proportions of patients who were white were similar (57.7% vs 62.8%). Patients with OI were more likely to experience skeletal complications during follow-up (54.9% vs 16.4%; P <0.01), most frequently osteoporosis/osteopenia (9.6% vs 0.2%), scoliosis (19.8% vs 3.2%), and other congenital musculoskeletal anomalies (39.5% vs 13.6%) (all P <0.01). Patients with OI were more likely to experience ≥1 fracture during follow-up (69.4% vs 13.0%; IRR [95% CI]: 12.6 [10.9–14.6]; P <0.01). Patients with OI also more frequently experienced non-skeletal complications such as pain (74.1% vs 44.3%; P <0.01) and respiratory insufficiency (6.8% vs 3.9%; P = 0.03). Patients with OI had more frequent outpatient (100.0% vs 83.2%; IRR [95% CI]: 2.5 [2.4–2.6]), ER (13.6% vs 9.5%; IRR [95% CI]: 1.4 [1.2–1.7]) and inpatient (24.7% vs 5.8%; IRR [95% CI]: 4.5 [3.6–5.5]) visits versus controls (all P <0.01).

Conclusion: These results demonstrate substantial clinical and healthcare resource burden of OI and inform evaluation of disease-modifying therapies.