Heart structure and function in children and adults with Osteogenesis Imperfecta
Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study
This project will follow children and adults with Osteogenesis Imperfecta to see how their heart structure and function change over a five-year period.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 5 Years to 80 Years |
| Sex | All |
| Sponsor | Istituto Ortopedico Rizzoli Academic / other |
| Locations | 1 site (Bologna, Emilia-Romagna) |
| Trial ID | NCT07287241 on ClinicalTrials.gov |
What this trial studies
This is a prospective observational cohort that will enroll children and adults with a confirmed diagnosis of Osteogenesis Imperfecta and perform baseline and periodic follow-up visits over 60 months. Participants will receive clinical and genetic assessments, echocardiography, electrocardiograms, radiographic evaluations, and quality-of-life questionnaires (EQ-5D) as part of routine follow-up at the coordinating center. The study aims to characterize the incidence and progression of structural and functional cardiac abnormalities across age groups. Results are intended to inform early cardiologic screening strategies and harmonized management approaches for people living with OI.
Who should consider this trial
Good fit: Children and adults with a confirmed diagnosis of OI (modified Sillence classification) who can attend the Rizzoli clinic in Bologna and complete cardiac and clinical evaluations are appropriate candidates.
Not a fit: People who cannot travel to the study center, have acute respiratory infections at assessment, or cannot cooperate with examinations due to severe cognitive impairment are unlikely to participate or benefit.
Why it matters
Potential benefit: If successful, the findings could help detect heart problems earlier in people with OI and guide targeted screening to reduce cardiopulmonary morbidity and improve quality of life.
How similar studies have performed: Prior smaller observational reports have identified cardiac abnormalities in OI, but comprehensive long-term prospective data across age groups remain limited.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Bologna, Emilia-Romagna
- IRCCS Istituto Ortopedico Rizzoli — Bologna, Emilia-Romagna, Italy (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.