Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 8
- 试验地点
- 1
- 主要终点
- Frequency of emphysema in patients carrying FLNA mutation
研究概览
简要总结
Some sparse scientific data support the hypothesis that otherwise unexplained emphysema may be associated with FLNA mutation. This prospective, monocentric, cross-sectional study aimed to describe the frequency of emphysema in patients carrying an FLNA mutation. Patients with FLNA mutations who accept the study will benefit from a chest physician's clinical examination, respiratory function tests and a chest scan. The primary endpoint is to describe emphysema's frequency in patients carrying FLNA mutation. The other objectives are to describe emphysema's features in these patients and to describe their lung function abnormalities. The final goal is to confirm the association between unexplained emphysema and FLNA mutation.
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
- •patients with an FLNA mutation (or gene alteration)
- •patient who has given written consent to participate in the trial
- •socially insured patient
- •patient willing to comply with all study procedures and duration
排除标准
- •Patient refused or unable to give informed consent
- •Administrative reasons: inability to receive information, inability to participate in the entire study, lack of coverage by the social security system,
- •Pregnant or breastfeeding women
- •Patient under guardianship
- •Persons deprived of liberty
结局指标
主要结局
Frequency of emphysema in patients carrying FLNA mutation
时间窗: Baseline
The presence or absence of emphysema is determined by the chest CT scan.
次要结局
- Morphological of emphysema(Baseline)
- Frequency of unexplained emphysema in patients carrying a FLNA mutation(Baseline)
- The severity of emphysema(Baseline)
- Topographical characteristics of emphysema(Baseline)
- Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test(Baseline)