Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Not Applicable

Completed

• Conditions: Congenital Cystic Adenomatoid Malformation (CCAM)
• Interventions: Genetic: Patient

• Registration Number: NCT01732185
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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.

Study Timeline

• Study Start: 2012-10-11
• Study First Submitted: 2012-11-19
• Study First Submitted QC: 2012-11-19
• Study First Posted: 2012-11-22
• Primary Completion: 2015-10-11
• Study Completion: 2015-10-11
• Status Verified: 2021-04
• Last Update Submitted: 2021-04-30
• Last Update Posted: 2021-05-03

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 45

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Patient	Patient	congenital cystic adenomatoid malformations

Primary Outcome Measures

Name	Time	Method
mRNA expression	at Day 0	Transcriptomic analysis

Secondary Outcome Measures

Name	Time	Method
Protein expression	at Day 0	Proteomic expression
Somatic genetic abnormalities	at Day 0	CGH array

Trial Locations

Locations (1)

Necker-Enfants Malades Hospital; 🇫🇷 Paris, France