MAKP: Genetic and Molecular Abnormalities in Congenital Cystic Adenomatoid Malformations
Study Details
Study Description
Brief Summary
The aim of this study is to identify genetic abnormalities and molecular pathways associated with the occurrence of CCAM.
Condition or Disease | Intervention/Treatment | Phase |
---|---|---|
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N/A |
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 Design
Arms and Interventions
Arm | Intervention/Treatment |
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Other: Patient congenital cystic adenomatoid malformations |
Genetic: Patient
Blood and histological samples will be done at day of the inclusion.
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Outcome Measures
Primary Outcome Measures
- mRNA expression [at Day 0]
Transcriptomic analysis
Secondary Outcome Measures
- Protein expression [at Day 0]
Proteomic expression
- Somatic genetic abnormalities [at Day 0]
CGH array
Eligibility Criteria
Criteria
Inclusion Criteria:
-
Children < 8 years
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Thoracic surgery for congenital lung malformation
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Parental written consent
Exclusion Criteria:
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Children > 8 years
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Previous infection of the malformation
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Parental rebutal
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
---|---|---|---|---|---|
1 | Necker-Enfants Malades Hospital | Paris | France | 75015 |
Sponsors and Collaborators
- Assistance Publique - Hôpitaux de Paris
Investigators
- Principal Investigator: Christophe Delacourt, MD, PhD, Necker-Enfants Malades Hospital
Study Documents (Full-Text)
None provided.More Information
Publications
- P100510
- 2012-A00538-35