Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

NCT01732185 — Not applicable, Completed, 45 participants, Assistance Publique - Hôpitaux de Paris

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Registry	NCT01732185, acronym MAKP
Status	Completed
Phase	Not applicable
Study type	Interventional; na, single group, masking: none, basic science
Enrollment	45 (Actual)
Sponsor	Assistance Publique - Hôpitaux de Paris (Other); collaborators: URC-CIC Paris Descartes Necker Cochin
Conditions	Congenital Cystic Adenomatoid Malformation (CCAM)
Interventions	Patient (Genetic)
Dates	start 2012-10-11, primary completion 2015-10-11, completion 2015-10-11, first posted 2012-11-22, last updated 2025-09-08
Locations	1 site in France

-Summary

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

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+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.

+Arms and interventions

Arm	Type	Interventions	Description
Patient	Other	Genetic: Patient	congenital cystic adenomatoid malformations

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

+Outcome measures

Primary outcomes

mRNA expression [at Day 0]: Transcriptomic analysis

Secondary outcomes

Protein expression [at Day 0]: Proteomic expression
Somatic genetic abnormalities [at Day 0]: CGH array

+Eligibility

Sex: All, ages: any to 8 Years

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

+Locations (1)

Facility	City	Country	Status
Necker-Enfants Malades Hospital	Paris	France

+Publications

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. PMID 22726873
Results publication: 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. PMID 32019538

+Investigators

Christophe Delacourt, MD, PhD, Principal investigator, Necker-Enfants Malades Hospital