Actively Recruiting
Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study
Led by Istituto Ortopedico Rizzoli · Updated on 2025-12-17
40
Participants Needed
1
Research Sites
N/A
Total Duration
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AI-Summary
What this Trial Is About
Researchers are investigating the presence and progression of heart-related changes in children and adults living with Osteogenesis Imperfecta (OI), a condition known to cause bone fragility. Cardiopulmonary problems are a major cause of illness and death in adults with OI, but advances in medical care have increased life expectancy. This study aims to collect detailed heart health information across different age groups to help improve early screening and management of heart issues in people with OI. Participants will receive standard clinical and imaging tests during their regular follow-up visits over a period of 60 months. These tests include clinical and genetic evaluations, echocardiograms, electrocardiograms, cardiology visits, and X-rays. They will also complete a quality-of-life questionnaire (EQ-5D). The study collects information from these routine assessments without adding extra procedures, observing heart structure and function in participants over time. Throughout the study, participants will be monitored at baseline and at regular intervals for up to five years. Researchers will review their cardiac health using echocardiography and other clinical measures to identify any abnormalities. The goal is to understand how heart issues develop in OI patients and to support the creation of better screening and treatment approaches, improving clinical care and quality of life. The study is led by the Istituto Ortopedico Rizzoli, a center specialized in rare bone diseases.
CONDITIONS
Brief Title
Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of Osteogenesis Imperfecta according to the modified Sillence classification (Mortier et al., 2019)
- All subjects with Osteogenesis Imperfecta who attend genetic consultations at the clinic affiliated with the Rare Skeletal Diseases Unit of the IRCCS Rizzoli Orthopaedic Institute
- Willingness to undergo clinical and instrumental assessments at the IRCCS Rizzoli Orthopaedic Institute
You will not qualify if you...
- Acute upper and/or lower respiratory tract infections at the time of assessment
- Cognitive impairment affecting cooperation and the performance of examinations
AI-Screening
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Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Baseline assessments at enrollment
Participants undergo clinical and genetic assessments, echocardiography, electrocardiograms, radiographic evaluations, and quality-of-life questionnaires as part of routine clinical practice.
1 baseline visit (in-person)
Duration - Up to 60 months
Participants are periodically evaluated with clinical and instrumental assessments over a 60-month follow-up period to monitor cardiac structure and function.
Periodic visits as part of standard follow-up care
Trial Site Locations
Total: 1 location
1
IRCCS Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, Italy, 40136
Actively Recruiting
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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