Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 271
- 试验地点
- 1
- 主要终点
- Diagnosed with specific cause for chILD
研究概览
简要总结
Recruitment of a carefully characterized cohort of chILD patients, to generate a database and biobank via collecting data on chILD in China. Importantly, compatibility with ongoing United States and Europe chILD data base developments will be factored in.
详细描述
Children Interstitial lung disease (chILD) is a heterogeneous group of rare respiratory disorders of known and unknown etiologies that are mostly chronic and associated with high morbidity and mortality. ILD are characterized by inflammatory and fibrotic changes of the lung parenchyma structure that typically result in the presence of diffuse infiltrates on lung imaging, and abnormal pulmonary function tests with evidence of a restrictive ventilatory defect and/or impaired gas exchange.
Genetic factors are important contributors to chILD. Genetic variations have been mainly described in genes encoding (or interacting with) the surfactant proteins (SP): SP-C (SFTPC) and the ATP-binding cassette-family A-member 3 (ABCA3) (ABCA3), and less frequently in the genes encoding NKX homeobox 2 (NKX2)-1 (NKX2-1), SP-B (SFTPB), SP-A (SFTPA) ,MARS and other genes.
To investigate genetic defects and clinical features of chILD in China, wide recruitment and interdisciplinary critical peer review of all diagnoses from discharge diagnosis coding system of Children's Hospital of Fudan University will be included. Each case will be given a diagnosis independently; if no firm diagnosis is possible, the investigators will review the case periodically as new information becomes available. During the first year of the study, clinicians´ decisions according to clinical practice and outcomes will be independently monitored and assessed.
The investigators will systematically optimize and clarify the relative weight of a large spectrum of single and composite clinical outcomes, sequential limited chest CT (to minimise radiation exposure), lung function testing, histopathological categorization of lung biopsies, serum markers and genetic tests. Variability, reproducibility and the effects of training on reading images will be investigated.
This project will analyse in detail treatment and outcomes within and between subjects using data collected. Analysis of the collected data will support the definition of trial protocols planned in the future.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •The chILD syndrome exists when a child with DLD has had the common causes of DLD excluded as the primary diagnosis and has at least three of the following four criteria: (1) respiratory symptoms (e.g., cough, rapid and/or difficult breathing, or exercise intolerance);(2) respiratory signs (e.g., resting tachypnea, adventitious sounds, retractions, digital clubbing, failure to thrive, or respiratory fail- ure); (3) hypoxemia; and (4) diffuse abnormalities on CXR or a CT scan.
排除标准
- •These include cystic fibrosis, congenital or acquired immunodeficiency, congenital heart disease, bronchopulmonary dysplasia, pulmonary infection, primary ciliary dyskinesia presenting with newborn respiratory distress and recurrent aspiration.
结局指标
主要结局
Diagnosed with specific cause for chILD
时间窗: 6 years
(yes/no) Specific causes for chILD based on the 2013 Official American Thoracic Society Clinical Practice Guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy
次要结局
- Change of BALF(bronchoalveolar lavage fluid)(6 years)
- Abnormal autoantibody at baseline when diagnosed with chILD(6 years)
- Pathological change of lung biopsy(6 years)
- Abnormal serum immunoglobulin at baseline when diagnosed with chILD(6 years)
- Abnormal blood urea nitrogen at baseline when diagnosed with chILD(6 years)
- Having pathogenic gene mutations(6 years)
- Deterioration of pulmonary imaging(6 years)
- Change from baseline in lung function on the spirometry forced expiratory(6 years)
- Abnormal serum creatinine at baseline when diagnosed with chILD(6 years)
- Deterioration of pulmonary arterial hypertension(6 years)
- Hypoxemia(6 years)
- Survival(5 years)
- Abnormal thyroid hormone at baseline when diagnosed with chILD(6 years)
- Abnormal myocardial zymogram at baseline when diagnosed with chILD(6 years)
- Abnormal alanine transferase at baseline when diagnosed with chILD(6 years)
- Recurrent hospitalization(1 year after diagnosis)
- Abnormal allergen at baseline when diagnosed with chILD(6 years)