Congenital lung anomalies include different pathologies such as congenital cystic adenomatoid malformation, pulmonary sequestration, bronchial atresia, emphysema, bronchogenic cyst. They concern less than 1/10000 births and their physiopathological origin is still poorly understood. The main goal of this project is to pool the cases from different swiss centers on a prospective cohort study, first to increase knowledge of clinical and radiological evolution and their correlation with histological data, and second to analyse the pathological embryological mechanism underlying these malformations.
1. To register prospectively clinical, biological, radiological and histological datas in a multicentric database (secured internet link, via Secutrial® software). for children with prenatal diagnosis of this kind of malformation. This study is conducted by a multidisciplinary team, involving obstetricians, neonatologists, pneumologists, pediatric surgeons, radiologists and anatomopathologists. 2. To create a tissue biobank Outcomes: 1. Contribute to the definition of a standardized procedure at the Swiss level for the treatment of patients suffering from these malformations, 2. Improve the assessment of lesion evolution related to CLA, and 3. Possibly validate some biomarkers, which could help to identify individuals at risk. On the long term, these results could also support the development of innovative therapies targeting the factors involved in lung development.
Study Type
OBSERVATIONAL
Enrollment
100
Resection of the malformation lung sections with a healthy adjacent part
Geneva University Hospital
Geneva, Switzerland
RECRUITINGChange in clinical of patients with CLA between different time point
Clinical measurements: size (cm), weight (kg), saturation (%)
Time frame: Birth, 1 month of life, 4 months of life, 9-18 months of life, 6 months post surgery, 1 year post surgery, 7 years old, 10 years old, 12 years old
Analysis of CLA physiopathology
Analysis of growth factors, transcription factors and extracellular components implicated in CLA genesis by immunohistochemistry, transcriptomic and proteomic methods
Time frame: samples collected during surgery
Change in lung function
FEV1 (l/min), FEV1/FVC (%)TLC (L) DLCO (ml/min/mmHg)
Time frame: 7 years old,10 years old, 12 years old, 16 years old
Change in Scar aspect and thoracic deformation of patients with CLA between different time point
Description
Time frame: 6 months post surgery, 1 year post surgery, 7 years old, 10 years old, 12 years old
Change in lung radiological images of patients with CLA between different time point
Chest X-ray and Thoracic CT Scan lesion description
Time frame: 1 month of life, 4 months of life, 9-18 months of life, 6 months post surgery, 1 year post surgery, 7 years old, 10 years old, 12 years old
Change in lesion size described by antenatal ultrasound of patients with CLA between different time point
lesion size (mm) CVR, estimated wight (gr), Head circumferences (cm)
Time frame: 22, 28, 32 and 37 weeks of gestation
Change in lesion description by antenatal ultrasound of patients with CLA between different time point
Lesion description (micro cysts, macrocysts),lesion localisation
Time frame: 22, 28, 32 and 37 weeks of gestation
Report biomarkers implicated in CLA with a potential role in lesion oncogenic transformation
Comparison using exome analysis : CLA lesion, healthy adjacent part and blood DNA
Time frame: 1 year post surgery
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