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

April 30, 2021 updated by: Assistance Publique - Hôpitaux de Paris
The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Actual)

45

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75015
        • Necker-Enfants Malades Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 8 years (CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: BASIC_SCIENCE
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
OTHER: Patient
congenital cystic adenomatoid malformations
Genetic: Patient
Blood and histological samples will be done at day of the inclusion.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
mRNA expression
Time Frame: at Day 0
Transcriptomic analysis
at Day 0

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Investigators

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

October 11, 2012

Primary Completion (ACTUAL)

October 11, 2015

Study Completion (ACTUAL)

October 11, 2015

Study Registration Dates

First Submitted

November 19, 2012

First Submitted That Met QC Criteria

November 19, 2012

First Posted (ESTIMATE)

November 22, 2012

Study Record Updates

Last Update Posted (ACTUAL)

May 3, 2021

Last Update Submitted That Met QC Criteria

April 30, 2021

Last Verified

April 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • P100510
  • 2012-A00538-35 (REGISTRY: ID-RCB)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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