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.

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