Surfactant Disorders and Chronic Lung Disease

NCT00783978 | Completed

• 1 other identifier: AOM 07019
• Study Type: observational
• Target: 58
• Locations: 1 country
• Sites: 1

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.

Conditions

Chronic Lung Disease

Keywords

Surfactant protein C; Interstitial; lung; Children

Outcome Measures

Primary Outcomes (1)

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

  At the inclusion visit

Secondary Outcomes (2)

• 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

Study Arms (1)

1

Children with chronic lung disease

Other: whole blood sample

Interventions

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

1

Eligibility Criteria

• Age: 1 Month - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

French pulmonary units participating to the study

You may qualify if:

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

You may not qualify if:

• informed consent denied
• absence of social security

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hopital Trousseau

Paris, 75012, France

Location

Related Publications (3)

• 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.

  PMID: 24136335 DERIVED

• 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.

  PMID: 23856024 DERIVED

• 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.

  PMID: 22068586 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, plasma, DNA

Study Officials

• Ralph Epaud, MD

  Hopital Trousseau, APHP

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 31, 2008
• First Posted: November 3, 2008
• Study Start: September 1, 2009
• Primary Completion: June 1, 2012
• Study Completion: June 1, 2012
• Last Updated: November 19, 2012

Record last verified: 2012-11

Locations

FR (1)