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Completed

NCT Number: NCT00783978

Surfactant Disorders and Chronic Lung Disease

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.

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Key information

Conditions

Chronic Lung Disease

Age range

1 month–17 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Hopital Trousseau

Paris, 75012, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

whole blood sample

Other

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

Primary outcomes

  1. To assess the prevalence of SFTPC mutation in children with chronic lung diseases

    Time frame: At the inclusion visit

Secondary outcomes

  1. To precise clinical and radiological features of children with SFTPC mutation

    Time frame: At the inclusion visit

  2. To identify environmental or genetic factors that may explain the extreme variability of this disease

    Time frame: At the inclusion visit

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

Surfactant Disorders Associated With Chronic Lung Disease in Children.

Acronym: APSE

Important dates

Study start
2009
Primary completion
2012
Study completion
2012
First posted
Nov 3, 2008
Registry last updated
Nov 19, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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