An observational study in Osteogenesis Imperfecta (OI) and Osteogenesis Imperfecta, sponsored by Istituto Ortopedico Rizzoli. Recruiting at 1 site in Italy. Open to participants aged 5 Years to 80 Years. Per ClinicalTrials.gov, last updated 2025-12-17.
Sponsored by Istituto Ortopedico Rizzoli · Observational
This prospective observational investigation will examine the incidence and progression of cardiologic findings in individuals with OI across different age groups. Cardiopulmonary complications are recognized as major contributors to morbidity and mortality in adults with OI, although life expectancy has significantly improved in recent years due to medical advancements.
By systematically evaluating cardiovascular involvement in this population, the study aims to generate clinically relevant evidence to inform early cardiologic screening strategies and support the development of harmonized and targeted management approaches, ultimately improving clinical practice and the quality of life of individuals living with OI.
Research on extra-skeletal manifestations, particularly those affecting the cardiovascular system, is still rather limited, despite this being one of the main causes of morbidity and mortality among these patients. Cardiovascular abnormalities can also be found in childhood, even in cases of mild Osteogenesis Imperfecta.
This observational prospective cohort study is to evaluate the presence and progression of structural and functional cardiac abnormalities in children and adults with Osteogenesis Imperfecta (OI).
Participants will undergo routine clinical and instrumental evaluations performed during standard follow-up visits at the study center, including:
These assessments will be performed at baseline and periodically over a 60-month follow-up period to characterize cardiovascular involvement in OI and support early cardiologic screening strategies.
The Department of Rare Skeletal Disorders at Istituto Ortopedico Rizzoli, Bologna, Italy, has been a reference centre, and coordinating centre, of ERN BOND, the European Reference Network for rare BONe Diseases (https://ernbond.eu/), since its creation in 2017
84 studies on the registry are indexed under Osteogenesis Imperfecta; 20 are open to participants now.
This study's planned enrollment of 40 is below the median of 75 across 23 observational studies indexed under Osteogenesis Imperfecta.
Browse Osteogenesis Imperfecta studies →Istituto Ortopedico Rizzoli is the lead sponsor of 304 studies on the registry; 103 are open to participants now.
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Patients affected by Osteogenesis Imperfecta
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Exclusion Criteria:
Other: Imaging evaluation, Echocardiography
Since this is an observational study, researchers collect general information from instrumental investigations and functional assessments carried out as part of normal clinical practice
Cardiac abnormalities
The incidence of structural and functional cardiac abnormalities in individuals with osteogenesis imperfecta.
Time frame: From enrollment to the end of study at 60 months
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