NCT07287241

Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta

Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 40 (estimated)
• Sponsor: Istituto Ortopedico Rizzoli · Academic / Other
• Sex: All
• Age: 5 Years – 80 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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: * Clinical and genetic assessment * Echocardio, electrocardiogram, and cardiology visit * Radiographic evaluation * Quality-of-life questionnaire (EQ-5D) 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

Conditions

• Osteogenesis Imperfecta (OI)
• Osteogenesis Imperfecta

Interventions

Type	Name	Description
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

Timeline

• Start date: 2025-06-10
• Primary completion: 2031-12-01
• Completion: 2031-12-01
• First posted: 2025-12-17
• Last updated: 2025-12-17

Locations

1 site across 1 country: Italy