Registry of Osteogenesis Imperfecta Collecting Clinical, Genetic, Genealogical, Imaging, Surgical, and Quality of Life Data Linked to Biological Samples

What this Trial Is About

Researchers are collecting and analyzing a wide range of clinical, genetic, genealogical, surgical, and quality of life data from people affected by Osteogenesis Imperfecta. This registry combines retrospective and prospective information to better understand the disease's progression, genetic background, and phenotypic outcomes. The study uses a web-accessible, GDPR-compliant platform called GeDI to manage and integrate data securely and according to medical informatics standards. Participants with Osteogenesis Imperfecta, including those diagnosed prenatally or as fetuses, are included in this observational study. The registry gathers detailed information across many areas such as patient personal details, diagnostic history, family disease transmission, clinical symptoms, genetic analysis, visits, treatments including bisphosphonates, surgeries, documents, consents, biological samples, and patient-reported outcomes like quality of life. This comprehensive data collection aims to support both clinical care and research. During the study, participants' medical histories, genetic data, imaging, treatments, and outcomes are recorded and updated over time. Researchers monitor natural history and epidemiology over 25 years and assess genotype-phenotype correlations. The registry allows ongoing data collection without intervention, providing a long-term view of Osteogenesis Imperfecta. Participants may be asked to provide consent and samples, and their information is securely stored and managed to support future research and care improvements.

Registry of Osteogenesis Imperfecta