Surfactant Disorders and Chronic Lung Disease

Surfactant Disorders Associated With Chronic Lung Disease in Children.

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00783978

Acronym

APSE

Enrollment

Registered

2008-11-03

Start date

2009-09-30

Completion date

2012-06-30

Last updated

2012-11-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Chronic Lung Disease

Keywords

Surfactant protein C, Interstitial, lung, Children

Brief 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.

Detailed 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.

Interventions

OTHERwhole 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

Study design

Observational model

FAMILY_BASED

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

1 Months to 17 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
To assess the prevalence of SFTPC mutation in children with chronic lung diseases	At the inclusion visit

Secondary

Measure	Time frame
To precise clinical and radiological features of children with SFTPC mutation	At the inclusion visit
To identify environmental or genetic factors that may explain the extreme variability of this disease	At the inclusion visit

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026