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
Istituto Ortopedico Rizzoli
40 participants
Jun 10, 2025
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria3
- Diagnosis of OI according to the modified Sillence classification (Mortier et al., 2019)
- All subjects with OI who attend genetic consultations at the clinic affiliated with the Rare Skeletal Diseases Unit of the IRCCS Rizzoli Orthopaedic Institute (IOR)
- Willingness to undergo clinical and instrumental assessments at the IOR
Exclusion Criteria2
- Acute upper and/or lower respiratory tract infections at the time of assessment
- Cognitive impairment affecting cooperation and the performance of examinations
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
Since this is an observational study, researchers collect general information from instrumental investigations and functional assessments carried out as part of normal clinical practice
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT07287241