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Surfactant Disorders and Chronic Lung Disease — APSE  

Chronic Lung Disease Clinical Trial

Official title:
Surfactant Disorders Associated With Chronic Lung Disease in Children.

Clinical Trial Summary

Interstitial lung diseases (ILD) in children represent a heterogeneous group of rare and not well defined disorders. Genetic abnormalities of surfactant proteins B (SFTPB) and more recently C (SFTPC) have been shown to be related to these pathologies. However, variability in the lung disease phenotype suggests the involvement of other surfactant-associated genes such as ABCA3 (ATP-binding cassette, sub-family A, member, 3). Thus, the aim of this project is: 1) to assess the prevalence of SFTPC mutation in children with chronic lung diseases, 2) to precise clinical and radiological features of children with SFTPC mutation, and 3) to identify environmental or genetic factors that may explain the extreme variability of this disease.

Clinical Trial Description

The first stage of this project will be to constitute a clinical, radiological, biological database of children (1 moth-17 years) with severe respiratory distress and/or an unexplained chronic ILD. Mutations in SFTPC, SFTPB and ABCA3 will be further identified by sequencing and documented with using the parents blood samples. ;

Study Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT00783978
Study type Observational
Source Assistance Publique - Hôpitaux de Paris
Contact
Status Completed
Phase N/A
Start date September 2009
Completion date June 2012
View Details
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