Registry of Osteogenesis Imperfecta

Condition(s) studied

Investigational drug(s) / intervention(s)

bisphosphonates: Since this is an observational study, the investigators collect general information on bisphosphonates treatment/impact

Study summary

ROI is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been developed to corroborate and integrate data from different sources evaluating several aspects of diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.

Eligibility

Primary outcome measure(s)

• Natural History and Epidemiology — 25 years
  To maintain an established registry in order to assess epidemiology and natural history. Collection of physical examinations (severity of the disease), orthopaedics and functionals data (number of fractures, fracture sites, deafness, etc.), genetics background (target gene, type of mutation, etc.), family history (inheritance in maternal or paternal line, etc.) and treatment information (pharmacological, devices, supplements, and other treatments). Clinical, orthopedic, surgical, treatment and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.

Trial sites (1)

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