Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations (MAKP)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Congenital Cystic Adenomatoid Malformation (CCAM)

Treatments: Genetic: Patient

Study type: Interventional

Funder types: Other

Identifiers

NCT01732185

P100510

2012-A00538-35 (Registry Identifier)

Details and patient eligibility

About

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

Full 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.

Enrollment: 45 patients

Sex: All

Ages: Under 8 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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45 participants in 1 patient group

Patient

Other group

Description:

congenital cystic adenomatoid malformations

Treatment:

Genetic: Patient