Multicenter Study of Pain in Osteogenesis Imperfecta

Research Objectives To investigate the frequency and type of pain by disease severity and the treatment of pain in individuals with osteogenesis imperfecta (OI), a genetic disorder and member of the rare disease family. Design Cross-sectional analysis. Setting Subjects were enrolled in a longitudinal multicenter study of OI. Participants The study included 558 individuals with a clinical or molecular diagnosis of OI, classified as OI type I (44%), type III (20%), type IV (27%), and other (9%). Median age was 12.4 years (0.0 - 67.2 years). Interventions N/A. Main Outcome Measures Rare Diseases Clinical Research Network, Brittle Bone Disorders Consortium: Clinical Assessment Instrument: presence, type of pain and pharmacological treatment used for pain relief. Results 62% of subjects reported pain (25% acute; 26% chronic; 11% acute & chronic). Acute pain did not change significantly across age groups (p=0.13), but the frequency of chronic pain increased with age, being highest in adults (p Conclusions A majority of individuals with OI experience pain. Chronic pain increases with age across all disease types while acute pain is more frequent in OI type III. The study underscores the need for additional research to address causes of pain, treatment effectiveness, and the impact of pain on mobility for individuals with OI. Author(s) Disclosuress The study was supported by 1) BBDC (1U54AR068069), a part of the NCATS RDCRN. BBDC is funded through ORDR, NCATS, NIAMS, NIDCR, and NICHD, 2) HHS/NIDILRR 90ARHF0006-01, 3) OREC at Marquette University, and 4) Shriners Hospitals for Children.