First outcomes of the European registries on Osteogenesis Imperfecta

The European Registries for Rare Endocrine and Bone Conditions, including the Osteogenesis Imperfecta (OI) module, provide a harmonized, multinational infrastructure to capture high-quality, real-world clinical data on phenotypes, genotypes, management strategies, and long-term outcomes. Working with the first data entries of the OI module is critical because early analyses validate data quality, identify gaps in variable capture, and enable preliminary epidemiological and clinical insights that guide optimization of the registry itself. These first datasets also allow participating centres to benchmark their practices, support feasibility assessments for future clinical trials, and accelerate the generation of evidence in a field where patient numbers are inherently limited. .

Objective

To map the outcomes from different centres throughout Europe on OI.

Research questions

  1. What is the distribution of OI types across participating European centers, and how does this compare with historical cohorts?  
  2. Which genotype–phenotype correlations emerge from the initial dataset, and are there novel or atypical variants?  
  3. What are the current patterns of bisphosphonate and other medical therapies in pediatric versus adult patients, and how consistent are these practices across Europe?  
  4. How do fracture incidence and growth trajectories vary by OI type, genetic mutation, or treatment strategy?  
  5. What is the baseline burden of extraskeletal complications (hearing loss, dentinogenesis imperfecta, cardiopulmonary issues), and are there early predictors identifiable in the registry?  
  6. How complete and interoperable are the initial data fields, and what methodological refinements are required to strengthen longitudinal follow-up analyses?  

The Methodology

Analysis of the Core registry common data elements and data from the OI module, including PROMs results (BPI-SF, EQ-5D) and e-rec data available for kids and adults from 2020 onward. 

Members of this Study Group

Name Expertise / Role Country
PI*: Natasha Appelman-Dijkstra internist-endocrinologist, EuRREB coordinator the Netherlands
Wolfgang Högler pediatric endocrinologist Austria
Guus Janus orthopaedic surgeon the Netherlands

For publications see our publication page.

For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.

*The Principal Investigator (PI) is the lead applicant responsible for submitting the data request and initiating the study.