Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations (MAKP)
The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.
|Study Design:||Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
|Official Title:||Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations|
- mRNA expression [ Time Frame: at Day 0 ] [ Designated as safety issue: No ]Transcriptomic analysis
- Protein expression [ Time Frame: at Day 0 ] [ Designated as safety issue: No ]Proteomic expression
- Somatic genetic abnormalities [ Time Frame: at Day 0 ] [ Designated as safety issue: No ]CGH array
|Study Start Date:||October 2012|
|Estimated Study Completion Date:||October 2015|
|Estimated Primary Completion Date:||April 2014 (Final data collection date for primary outcome measure)|
Cohort of patients
Blood and histological samples will be done at day of the inclusion.
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.
|Contact: Christophe Delacourt, MD, PhD||+ 33 1 44 49 49 firstname.lastname@example.org|
|Contact: Laurence Lecomte, PhD||+33 1 71 19 64 email@example.com|
|Necker-Enfants Malades Hospital||Recruiting|
|Paris, France, 75015|
|Contact: Christophe Delacourt, MD, PhD + 33 1 44 49 49 55 firstname.lastname@example.org|
|Principal Investigator:||Christophe Delacourt, MD, PhD||Necker-Enfants Malades Hospital|