Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Imaging evaluation, Echocardiography.
- Who it may be relevant to
- Registry conditions: Osteogenesis Imperfecta (OI), Osteogenesis Imperfecta. Basic parameters: 5 years — 80 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study
Overview
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
Interventions
- 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
Primary outcome measures
- Cardiac abnormalities [Time frame: From enrollment to the end of study at 60 months]
Eligibility 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- IRCCS Istituto Ortopedico Rizzoli — Bologna
Identifiers
NCT: NCT07287241 · 665/2021/Oss/IOR