Surfactant Disorders and Chronic Lung Disease (APSE)

• ClinicalTrials.gov Identifier: NCT00783978
• Recruitment Status: Completed
• First Posted: November 2, 2008
• Last Update Posted: November 19, 2012
• Sponsor: Assistance Publique - Hôpitaux de Paris
• Information provided by (Responsible Party): Assistance Publique - Hôpitaux de Paris

Study Description

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.

Condition or disease	Intervention/treatment
Chronic Lung Disease	Other: whole blood sample

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.

Study Design

• Study Type: Observational
• Actual Enrollment: 58 participants
• Observational Model: Family-Based
• Time Perspective: Cross-Sectional
• Official Title: Surfactant Disorders Associated With Chronic Lung Disease in Children.
• Study Start Date: September 2009
• Actual Primary Completion Date: June 2012
• Actual Study Completion Date: June 2012

Groups and Cohorts

Group/Cohort	Intervention/treatment
1; Children with chronic lung disease	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

Outcome Measures

Primary Outcome Measures :

1. To assess the prevalence of SFTPC mutation in children with chronic lung diseases [ Time Frame: At the inclusion visit ]

Secondary Outcome Measures :

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 ]

Biospecimen Retention:   Samples With DNA

Whole blood, plasma, DNA

Eligibility Criteria

• Ages Eligible for Study: 1 Month to 17 Years (Child)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

French pulmonary units participating to the study

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

Contacts and Locations

Locations

France

Hopital Trousseau

Paris, France, 75012

Sponsors and Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

• Principal Investigator: Ralph Epaud, MD; Hopital Trousseau, APHP

More Information

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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.

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.

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.

• Responsible Party: Assistance Publique - Hôpitaux de Paris
• ClinicalTrials.gov Identifier: NCT00783978
• Other Study ID Numbers: AOM 07019
• First Posted: November 2, 2008
• Last Update Posted: November 19, 2012
• Last Verified: November 2012

Keywords provided by Assistance Publique - Hôpitaux de Paris:

Surfactant protein C; Interstitial; lung; Children

Additional relevant MeSH terms:

Lung Diseases; Respiratory Tract Diseases