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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.
Outcomes:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patient with CLA with surgery |
| ||
| Patient with CLA without surgery |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Malformations resection | Procedure | Resection of the malformation lung sections with a healthy adjacent part |
|
| Measure | Description | Time Frame |
|---|---|---|
| Change in clinical of patients with CLA between different time point | Clinical measurements: size (cm), weight (kg), saturation (%) | 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 | samples collected during surgery |
| Change in lung function | FEV1 (l/min), FEV1/FVC (%)TLC (L) DLCO (ml/min/mmHg) | 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 | 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 | 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) | 22, 28, 32 and 37 weeks of gestation |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | 1 year post surgery |
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Inclusion Criteria:
Exclusion Criteria:
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Recruitment for this study is performed through a discussion with parents of the child during prenatal and postnatal medical consultations.
Blood samples will be collected during surgery.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Isabelle Ruchonnet-Métrailler, MD PhD | Contact | isabelle.ruchonnet-metrailler@hcuge.ch | ||
| Isabelle Andrieu Vidal, MD PhD | Contact | isabelle.andrieuvidal@hcuge.ch |
| Name | Affiliation | Role |
|---|---|---|
| Isabelle Andrieu Vidal, MD PhD | University Hospital, Geneva | Principal Investigator |
| Isabelle Ruchonnet-Métrailler, MD PhD | University Hospital, Geneva | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Geneva University Hospital | Recruiting | Geneva | 1205 | Switzerland |
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| ID | Term |
|---|---|
| D015615 | Cystic Adenomatoid Malformation of Lung, Congenital |
| C537516 | Pleuropulmonary blastoma |
| ID | Term |
|---|---|
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
| D015619 | Respiratory System Abnormalities |
| D000013 | Congenital Abnormalities |
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To create a biobank with the different samples of patients undergoing surgery, healthy edge of resections being considered as control tissue. Leukocyte DNA will be compared with lung tissue DNA.
| Change in lesion description by antenatal ultrasound of patients with CLA between different time point |
Lesion description (micro cysts, macrocysts),lesion localisation |
| 22, 28, 32 and 37 weeks of gestation |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |