Clinical Trial: Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Brief Summary: The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.

Detailed Summary: 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.
Sponsor: Assistance Publique - Hôpitaux de Paris

Current Primary Outcome: mRNA expression [ Time Frame: at Day 0 ]

Transcriptomic analysis


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Protein expression [ Time Frame: at Day 0 ]
    Proteomic expression
  • Somatic genetic abnormalities [ Time Frame: at Day 0 ]
    CGH array


Original Secondary Outcome: Same as current

Information By: Assistance Publique - Hôpitaux de Paris

Dates:
Date Received: November 19, 2012
Date Started: October 2012
Date Completion: June 2016
Last Updated: December 15, 2015
Last Verified: December 2015