Osteogenesis Imperfecta, Osteogenesis Imperfecta (OI)
Conditions
Keywords
Osteogenesis Imperfecta, Bone Diseases, Musculoskeletal Diseases, Genetic Diseases, Observational Study
Brief 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.
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
OTHERImaging 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
Sponsors
Istituto Ortopedico Rizzoli
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
5 Years to 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
Italy
Outcome results
None listed