MAKP: Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Sponsor
Assistance Publique - Hôpitaux de Paris (Other)
Overall Status
Completed
CT.gov ID
NCT01732185
Collaborator
(none)
45
1
1
36
1.3

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase
  • Genetic: Patient
N/A

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 Design

Study Type:
Interventional
Actual Enrollment :
45 participants
Allocation:
N/A
Intervention Model:
Single Group Assignment
Masking:
None (Open Label)
Primary Purpose:
Basic Science
Official Title:
Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations
Actual Study Start Date :
Oct 11, 2012
Actual Primary Completion Date :
Oct 11, 2015
Actual Study Completion Date :
Oct 11, 2015

Arms and Interventions

Arm Intervention/Treatment
Other: Patient

congenital cystic adenomatoid malformations

Genetic: Patient
Blood and histological samples will be done at day of the inclusion.

Outcome Measures

Primary Outcome Measures

  1. mRNA expression [at Day 0]

    Transcriptomic analysis

Secondary Outcome Measures

  1. Protein expression [at Day 0]

    Proteomic expression

  2. Somatic genetic abnormalities [at Day 0]

    CGH array

Eligibility Criteria

Criteria

Ages Eligible for Study:
N/A to 8 Years
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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

Contacts and Locations

Locations

Site City State Country Postal Code
1 Necker-Enfants Malades Hospital Paris France 75015

Sponsors and Collaborators

  • Assistance Publique - Hôpitaux de Paris

Investigators

  • Principal Investigator: Christophe Delacourt, MD, PhD, Necker-Enfants Malades Hospital

Study Documents (Full-Text)

None provided.

More Information

Publications

Responsible Party:
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01732185
Other Study ID Numbers:
  • P100510
  • 2012-A00538-35
First Posted:
Nov 22, 2012
Last Update Posted:
May 3, 2021
Last Verified:
Apr 1, 2021

Study Results

No Results Posted as of May 3, 2021