Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Cardiac abnormalities
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Acute upper and/or lower respiratory tract infections at the time of assessment
- •Cognitive impairment affecting cooperation and the performance of examinations
结局指标
主要结局
Cardiac abnormalities
时间窗: From enrollment to the end of study at 60 months
The incidence of structural and functional cardiac abnormalities in individuals with osteogenesis imperfecta.
次要结局
未报告次要终点