Surfactant Disorders and Chronic Lung Disease

Chronic Lung Disease Clinical Trial

— APSE  

Official title:

Surfactant Disorders Associated With Chronic Lung Disease in Children.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00783978
• Other study ID #: AOM 07019
• Status: Completed
• Phase: N/A
• First received: October 31, 2008
• Last updated: November 16, 2012
• Start date: September 2009
• Est. completion date: June 2012

Study information

• Verified date: November 2012
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 58
• Est. completion date: June 2012
• Est. primary completion date: June 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 1 Month to 17 Years

Eligibility

Inclusion Criteria:

• Children from 1 month to 17 years old with radiological alveola-interstitial syndrome and:

• Oxygen weaning failure > 1 month in term newborn babies(>37th week of PCA)or> 40 weeks of PCA in preterm babies

• or

• Chronic respiratory disease define by chronic hypoxia and/or clinical signs of respiratory distress (cough, retractions, crackle)

Exclusion criteria:

• informed consent denied

• absence of social security

Study Design

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

Related Conditions & MeSH terms

• Chronic Lung Disease
• Lung Diseases

Intervention

Other:
• whole blood sample
2 ml of whole blood for children 5 ml of whole blood for parents that will be used only if 1 mutation is found in children

Locations

Country	Name	City	State
France	Hopital Trousseau	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To assess the prevalence of SFTPC mutation in children with chronic lung diseases		At the inclusion visit	No
Secondary	To precise clinical and radiological features of children with SFTPC mutation		At the inclusion visit	No
Secondary	To identify environmental or genetic factors that may explain the extreme variability of this disease		At the inclusion visit	No