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

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: November 19, 2012
Last updated: December 15, 2015
Last verified: December 2015
The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.

Condition Intervention
Congenital Cystic Adenomatoid Malformation (CCAM)
Genetic: Patient

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
Official Title: Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • mRNA expression [ Time Frame: at Day 0 ]
    Transcriptomic analysis

Secondary Outcome Measures:
  • Protein expression [ Time Frame: at Day 0 ]
    Proteomic expression

  • Somatic genetic abnormalities [ Time Frame: at Day 0 ]
    CGH array

Enrollment: 45
Study Start Date: October 2012
Estimated Study Completion Date: June 2016
Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
congenital cystic adenomatoid malformations
Genetic: Patient
Blood and histological samples will be done at day of the inclusion.

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.

Ages Eligible for Study:   up to 8 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01732185

Necker-Enfants Malades Hospital
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Christophe Delacourt, MD, PhD Necker-Enfants Malades Hospital
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT01732185     History of Changes
Other Study ID Numbers: P100510
Study First Received: November 19, 2012
Last Updated: December 15, 2015

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Congenital lung malformation
Congenital Cystic Adenomatoid Malformation
Cystic lung disease

Additional relevant MeSH terms:
Congenital Abnormalities
Cystic Adenomatoid Malformation of Lung, Congenital
Lung Diseases
Respiratory Tract Diseases
Respiratory System Abnormalities processed this record on May 22, 2017