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

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01732185
First received: November 19, 2012
Last updated: June 25, 2014
Last verified: June 2014
  Purpose

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 ] [ Designated as safety issue: No ]
    Transcriptomic analysis


Secondary Outcome Measures:
  • Protein expression [ Time Frame: at Day 0 ] [ Designated as safety issue: No ]
    Proteomic expression

  • Somatic genetic abnormalities [ Time Frame: at Day 0 ] [ Designated as safety issue: No ]
    CGH array


Estimated Enrollment: 70
Study Start Date: October 2012
Estimated Study Completion Date: October 2015
Estimated Primary Completion Date: June 2015 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Patient
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.

  Eligibility

Ages Eligible for Study:   up to 8 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01732185

Contacts
Contact: Christophe Delacourt, MD, PhD + 33 1 44 49 49 55 christophe.delacourt@nck.aphp.fr
Contact: Laurence Lecomte, PhD +33 1 71 19 64 94 laurence.lecomte@nck.aphp.fr

Locations
France
Necker-Enfants Malades Hospital Recruiting
Paris, France, 75015
Contact: Christophe Delacourt, MD, PhD    + 33 1 44 49 49 55    christophe.delacourt@nck.aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Christophe Delacourt, MD, PhD Necker-Enfants Malades Hospital
  More Information

Publications:
Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01732185     History of Changes
Other Study ID Numbers: P100510
Study First Received: November 19, 2012
Last Updated: June 25, 2014
Health Authority: France: Ministry of Health

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

ClinicalTrials.gov processed this record on August 21, 2014