Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 600
- 主要终点
- Prevalence of ILA
研究概览
简要总结
Background:
Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of interstitial lung disease. Between 2% and 20% of patients with IPF have a family history of the disease, which is considered the strongest risk factor. Therefore, genetic testing has been increasingly considered as a potential tool to identify patients at risk of developing IPF.
According to some studies, genetic testing (particularly of MUC5B and TERT mutations) could be useful to rapidly identify unidentified and/or asymptomatic individuals (in families as well as in the general population) who have interstitial lung anomalies (ILA) that may indicate a initial stage of pulmonary fibrosis. Finding efficient screening methods and associated targeted treatments for IPF may be essential to improving the prognosis and quality of life of those suffering from this disease.
Objectives of the study:
The study involves two populations of study subjects:
- patients with FPF and sporadic IPF
- first-degree relatives of patients with FPF and sporadic IPF (biological relatives, not spouses)
The primary objective is to determine the prevalence rates of interstitial lung abnormalities in at-risk relatives of patient with IPF and FPF.
Study design:
Multicenter, cross-sectional study without drug and without device conducted in two major Italian tertiary referral hospitals.
The entire project is expected to last 24 months.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 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
- 是
入选标准
- •patients aged ≥18 years when signing the informed consent
- •diagnosis of IPF based on 2022 ATS/ERS/JRS/ALAT Guidelines as confirmed by the investigator based on chest HRCT scan and if available surgical lung biopsy
- •diagnosis of FPF defined as the presence of fibrotic ILD in at least two members of the same biological family
- •at least one 1st degree relative >40 years of age.
排除标准
- •patients with Interstitial Lung Diseases other than Idiopathic Pulmonary Fibrosis, including but not limited to patients with granulomatous lung disease, autoimmune/collagen vascular disease associated interstitial lung disease, and drug induced interstitial lung disease
- •unwilling or unable to sign informed consent
- •Criteria for FIRST DEGREE BIOLOGICAL RELATIVES:
- •Inclusion Criteria:
- •a. subjects aged ≥40 years
- •Exclusion Criteria:
- •previous diagnosis of IPF
- •a history of severe or poorly controlled anxiety, severe or poorly controlled depression according to the opinion of the investigators, suicidal ideation, or other psychiatric illness requiring hospitalization
- •unwilling or unable to sign informed consent 400 first-degree relatives of participating patients will be recruited
结局指标
主要结局
Prevalence of ILA
时间窗: At subject enrollment
The prevalence of ILA in first-degree relatives of patients with IPF, expressed as proportion of subjects with ILAs in the overall relatives population
次要结局
- Association between ILA and genetic variants(At subject enrollment)
研究者
RICHELDI LUCA
Professor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS