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Recruiting Observational

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

NCT07287241 · tracked via the Priya Life Science Italy tracker
Phase
Observational
Started
2025-06-10
Last updated
2025-12-17

Condition(s) studied

Osteogenesis Imperfecta (OI)Osteogenesis Imperfecta

Investigational drug(s) / intervention(s)

Imaging evaluation, Echocardiography

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

Study 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

Sex
ALL
Min age
5 Years
Max age
80 Years
Healthy volunteers
No
Inclusion Criteria: * 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 Criteria: * Acute upper and/or lower respiratory tract infections at the time of assessment * Cognitive impairment affecting cooperation and the performance of examinations

Primary outcome measure(s)

  • Cardiac abnormalities — From enrollment to the end of study at 60 months
    The incidence of structural and functional cardiac abnormalities in individuals with osteogenesis imperfecta.

Trial sites (1)

FacilityCityRegionStatus
IRCCS Istituto Ortopedico Rizzoli Bologna Emilia-Romagna Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07287241 on ClinicalTrials.gov ↗ ← All trials in Italy