Clinical trial NCT00783978: Surfactant Disorders and Chronic Lung Disease
Official title: Surfactant Disorders Associated With Chronic Lung Disease in Children.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Chronic Lung Disease
Keywords: Surfactant protein C
Interstitial
lung
Children
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2008-11-02
Enrollment: 58
Sex: ALL
Minimum age (years): 1
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: French pulmonary units participating to the study

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.

Eligibility criteria: 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

Primary outcomes:
measure: To assess the prevalence of SFTPC mutation in children with chronic lung diseases
timeFrame: At the inclusion visit
Secondary outcomes:
measure: To precise clinical and radiological features of children with SFTPC mutation
timeFrame: At the inclusion visit
measure: To identify environmental or genetic factors that may explain the extreme variability of this disease
timeFrame: At the inclusion visit
Other outcomes:
Locations:
city: Paris
country: France
facility: Hopital Trousseau
Study officials:
affiliation: Hopital Trousseau, APHP
name: Ralph Epaud, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A. Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17. No abstract available.
citation: Delestrain C, Flamein F, Jonard L, Couderc R, Guillot L, Fanen P, Epaud R. [Lung diseases in children associated with inherited disorders of surfactant metabolism]. Rev Pneumol Clin. 2013 Aug;69(4):183-9. doi: 10.1016/j.pneumo.2013.05.002. Epub 2013 Jul 12. French.
citation: Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Bremont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7.