Acinar Dysplasia, Bronchogenic Cancer, Congenital Lung Cyst, Congenital Lung Malformation, Pleuropulmonary Blastoma, Sequestrum
Conditions
Keywords
Congenital Lung Anomalies
Brief summary
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.
Detailed description
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.
Interventions
PROCEDUREMalformations resection
Resection of the malformation lung sections with a healthy adjacent part
Sponsors
University Hospital, Geneva
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 16 Years
Healthy volunteers
No
Inclusion criteria
* All patients diagnosed with congenital lung anomalies
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in lesion description by antenatal ultrasound of patients with CLA between different time point | 22, 28, 32 and 37 weeks of gestation | Lesion description (micro cysts, macrocysts),lesion localisation |
| Change in clinical of patients with CLA between different time point | 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 | Clinical measurements: size (cm), weight (kg), saturation (%) |
| Analysis of CLA physiopathology | samples collected during surgery | Analysis of growth factors, transcription factors and extracellular components implicated in CLA genesis by immunohistochemistry, transcriptomic and proteomic methods |
| Change in lung function | 7 years old,10 years old, 12 years old, 16 years old | FEV1 (l/min), FEV1/FVC (%)TLC (L) DLCO (ml/min/mmHg) |
| Change in Scar aspect and thoracic deformation of patients with CLA between different time point | 6 months post surgery, 1 year post surgery, 7 years old, 10 years old, 12 years old | Description |
| Change in lung radiological images of patients with CLA between different time point | 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 | Chest X-ray and Thoracic CT Scan lesion description |
| Change in lesion size described by antenatal ultrasound of patients with CLA between different time point | 22, 28, 32 and 37 weeks of gestation | lesion size (mm) CVR, estimated wight (gr), Head circumferences (cm) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Report biomarkers implicated in CLA with a potential role in lesion oncogenic transformation | 1 year post surgery | Comparison using exome analysis : CLA lesion, healthy adjacent part and blood DNA |
Countries
Switzerland
Contacts
Primary ContactIsabelle Ruchonnet-Métrailler, MD PhD
Backup ContactIsabelle Andrieu Vidal, MD PhD
Outcome results
None listed