Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 18
- 试验地点
- 3
- 主要终点
- proportion of restrictive lung physiology
研究概览
简要总结
Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen.
Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.
详细描述
This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Eighteen participants will be enrolled, ideally within one year. Participants will be enrolled regardless of OI type since Bronchial Wall Thickening, a finding we are attempting to validate, was observed in all types of OI. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. Smokers will not be excluded.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individuals who are able to give informed consent or have a legally authorized representative capable of giving consent on the subject's behalf
- •Individuals ages 18 and older of all races and sexes
- •Individuals who have been diagnosed with OI clinically and/or genetically
排除标准
- •Individuals diagnosed with respiratory illness within 6 weeks of enrollment or undergoing diagnostic studies for an active illness.
- •Individuals with other skeletal dysplasia or genetic diagnosis
- •Individuals diagnosed with cardiopulmonary comorbidities that affect lung compliance
结局指标
主要结局
proportion of restrictive lung physiology
时间窗: 12 months
FEV1/FVC greater than or equal to 80%, which is obtained from PFT
次要结局
- Presence and severity of Bronchial Wall Thickening(12 months)
- Change in lung tissue(12 months)
- Presences of pulmonary fibrosis(12 months)
- Vital lung capacity(12 months)
研究者
Brendan Lee
Consortium PI
Baylor College of Medicine