ArticleJBMR plus2026
Rare disease care pathways profile in France: leveraging hospital big data to characterize natural history in osteogenesis imperfecta.
Article in JBMR plus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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). 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 January 1, 2016 and March 1, 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% (
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