Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Congenital Cystic Adenomatoid Malformation (CCAM)
- Sponsor
- Assistance Publique - Hôpitaux de Paris
- Enrollment
- 45
- Locations
- 1
- Primary Endpoint
- mRNA expression
- Status
- Completed
- Last Updated
- 7 months ago
Overview
Brief Summary
The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.
Detailed Description
Congenital lung malformations are rare diseases, characterized by the coexistence in the same individual of normal lung and localized lung malformation. Among these malformations, congenital cystic adenomatoid malformations (CCAM) represent the most important group, with an estimated incidence between 1/11 000 and 1/35 000 births. The precise mechanisms leading to these lung malformations remain poorly understood. This project aims to identify key genetic and/or molecular mechanisms associated with the occurrence of CCAM. CCAMs are collected during postnatal surgical resection. Parental agreement is required. A standardised histologic description of malformations is performed for each sample. Normal lung tissue at the periphery of the malformation is considered as control. Malformations will be analyzed in a systematic way by proteome and transcriptome, after laser microdissection. Somatic genetic abnormalities will also systematically be sought.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Children \< 8 years
- •Thoracic surgery for congenital lung malformation
- •Parental written consent
Exclusion Criteria
- •Children \> 8 years
- •Previous infection of the malformation
- •Parental rebutal
Outcomes
Primary Outcomes
mRNA expression
Time Frame: at Day 0
Transcriptomic analysis
Secondary Outcomes
- Protein expression(at Day 0)
- Somatic genetic abnormalities(at Day 0)