Genetic and Molecular Abnormalities in Congenital Cystic... | NCT01732185

Studies
Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

NCT01732185

Sponsor

Assistance Publique - Hôpitaux de Paris

Status

Completed

Last Update Posted

Sep 8, 2025Actual

Enrollment

45Actual

Phase

Not Applicable

Conditions

Congenital Cystic Adenomatoid Malformation (CCAM)

Interventions

Patient

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
2012-A00538-35	Registry Identifier	ID-RCB

Status Module

Record Verification Date

Sep 2025

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 11, 2012Actual

Primary Completion Date

Oct 11, 2015Actual

Completion Date

Oct 11, 2015Actual

First Submitted Date

Nov 19, 2012

First Submission Date that Met QC Criteria

Nov 19, 2012

First Posted Date

Nov 22, 2012Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 1, 2025

Last Update Posted Date

Sep 8, 2025Actual

Name	Class
URC-CIC Paris Descartes Necker Cochin	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

45Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Patient	Other	congenital cystic adenomatoid malformations	Genetic: Patient

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Patient	Genetic	Blood and histological samples will be done at day of the inclusion.	Patient

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
mRNA expression	Transcriptomic analysis	at Day 0

Secondary Outcomes

Measure	Description	Time Frame
Protein expression	Proteomic expression	at Day 0
Somatic genetic abnormalities	CGH array	at Day 0

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

8 Years

Standard Ages

Child

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Christophe Delacourt, MD, PhD	Necker-Enfants Malades Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Necker-Enfants Malades Hospital		Paris		75015	France

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
22726873	Background	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.
32019538

ID	Term
D015615	Cystic Adenomatoid Malformation of Lung, Congenital
C563237	Cystic Disease Of Lung

ID	Term
D008171	Lung Diseases
D012140	Respiratory Tract Diseases
D015619	Respiratory System Abnormalities
D000013	Congenital Abnormalities