Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

NCT ID: NCT01732185

Last Updated: 2025-09-08

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 45 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2012-10-11
• Study Completion Date: 2015-10-11

Brief Summary

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

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.

Conditions

Congenital Cystic Adenomatoid Malformation (CCAM)

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Patient

congenital cystic adenomatoid malformations

Group Type: OTHER

Patient

Intervention Type: GENETIC

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

Interventions

Patient

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

Intervention Type: GENETIC

Eligibility Criteria

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

• Maximum Eligible Age: 8 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Christophe Delacourt, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Necker-Enfants Malades Hospital

Locations

Necker-Enfants Malades Hospital

Paris, , France

Countries

France

References

Lezmi G, Vibhushan S, Bevilaqua C, Crapart N, Cagnard N, Khen-Dunlop N, Boyle-Freyssaut C, Hadchouel A, Delacourt C. Congenital cystic adenomatoid malformations of the lung: an epithelial transcriptomic approach. Respir Res. 2020 Feb 4;21(1):43. doi: 10.1186/s12931-020-1306-5.

Reference Type: BACKGROUND

PMID: 32019538 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 22726873 (View on PubMed)

Other Identifiers

2012-A00538-35

Identifier Type: REGISTRY

Identifier Source: secondary_id

P100510

Identifier Type: -

Identifier Source: org_study_id