Abstract Rare Bone Disease Referral Centers (RBDCs) were established to improve the diagnosis and management of rare diseases. The objective of this retrospective observational study was to characterize real-life care pathways of patients with osteogenesis imperfecta (OI) in the Paris region. Patient data were extracted from the Assistance Publique-Hôpitaux de Paris (AP-HP) health data warehouse (Entrepôt de Données de Santé, EDS). Patients were identified using the ICD-10 code for OI (Q78.0) and keyword searches. Inclusion criteria were age ≥ 15 yr and at least one hospital visit between 01/01/2016 and 01/03/2021. After exclusion of unconfirmed diagnoses and patients younger than 15 yr, 472 patients with OI were included (mean age 39.5 ± 16.2 yr; 64.6% women). Of these patients, 78% (N = 368) were cared for in one of Paris RBDC, the majority in a single center (76% (N = 280)), while 104 patients (22%) were not seen within RBDCs in AP-HP data. The most frequent specialties involved were rheumatology (74.9%, N = 326), orthopedics (17.6%, N = 76), and otorhinolaryngology (12.9%, N = 56). The proportion of patients seen in rheumatology increased after the transition age of 25 yr (81.8% before vs 90% after, p = 0.04), whereas consultations in orthopedics and genetics decreased (29.5% vs 17.8%, p = 0.02%, and 22.7% vs 6.8%, p 0.0001, respectively). Orthopedic surgery during follow-up was performed in 6.2% of patients followed in RBDCs and 8.6% of those not seen within RBDCs. Although 78% (N = 368) of patients with OI in the Paris region were followed within RBDCs, nearly one quarter were not (22%), suggesting persistent gaps in access to specialized care. These findings provide a real-life description of hospital-based care pathways for OI but do not allow assessment of the effectiveness of the referral center model.
Herrou et al. (Fri,) studied this question.