Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Congenital Cystic Adenomatoid Malformation (CCAM) Clinical Trial

— MAKP  

Official title:

Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01732185
• Other study ID #: P100510
• Secondary ID: 2012-A00538-35
• Status: Completed
• Phase: N/A
• Start date: October 11, 2012
• Est. completion date: October 11, 2015

Study information

• Verified date: April 2021
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 45
• Est. completion date: October 11, 2015
• Est. primary completion date: October 11, 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 8 Years

Eligibility

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

Related Conditions & MeSH terms

• Congenital Abnormalities
• Congenital Cystic Adenomatoid Malformation (CCAM)

Intervention

Genetic:
• Patient
Blood and histological samples will be done at day of the inclusion.

Locations

Country	Name	City	State
France	Necker-Enfants Malades Hospital	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (1)

Kotecha S, Barbato A, Bush A, Claus F, Davenport M, Delacourt C, Deprest J, Eber E, Frenckner B, Greenough A, Nicholson AG, Antón-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. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	mRNA expression	Transcriptomic analysis	at Day 0
Secondary	Protein expression	Proteomic expression	at Day 0
Secondary	Somatic genetic abnormalities	CGH array	at Day 0