Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations
Overview
The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.
Study Type
- Study Type: Interventional
- Study Design
- Allocation: N/A
- Intervention Model: Single Group Assignment
- Primary Purpose: Basic Science
- Masking: None (Open Label)
- Study Primary Completion Date: October 11, 2015
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.
Interventions
- Genetic: Patient
- Blood and histological samples will be done at day of the inclusion.
Arms, Groups and Cohorts
- Other: Patient
- congenital cystic adenomatoid malformations
Clinical Trial Outcome Measures
Primary Measures
- mRNA expression
- Time Frame: at Day 0
- Transcriptomic analysis
Secondary Measures
- Protein expression
- Time Frame: at Day 0
- Proteomic expression
- Somatic genetic abnormalities
- Time Frame: at Day 0
- CGH array
Participating in This Clinical Trial
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
Gender Eligibility: All
Minimum Age: N/A
Maximum Age: 8 Years
Are Healthy Volunteers Accepted: No
Investigator Details
- Lead Sponsor
- Assistance Publique – Hôpitaux de Paris
- Provider of Information About this Clinical Study
- Sponsor
- Overall Official(s)
- Christophe Delacourt, MD, PhD, Principal Investigator, Necker-Enfants Malades Hospital
References
Kotecha S, Barbato A, Bush A, Claus F, Davenport M, Delacourt C, Deprest J, Eber E, Frenckner B, Greenough A, Nicholson AG, Anton-Pacheco JL, Midulla F. Antenatal and postnatal management of congenital cystic adenomatoid malformation. Paediatr Respir Rev. 2012 Sep;13(3):162-70; quiz 170-1. doi: 10.1016/j.prrv.2012.01.002. Epub 2012 Apr 25.
Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.