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

Tracking Information

• First Submitted Date: October 31, 2008
• First Posted Date: November 2, 2008
• Last Update Posted Date: November 19, 2012
• Study Start Date: September 2009
• Actual Primary Completion Date: June 2012 (Final data collection date for primary outcome measure)
• Current Primary Outcome Measures (submitted: October 31, 2008): To assess the prevalence of SFTPC mutation in children with chronic lung diseases [ Time Frame: At the inclusion visit ]
• Original Primary Outcome Measures: Same as current

Current Secondary Outcome Measures (submitted: October 31, 2008)

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

• Original Secondary Outcome Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Surfactant Disorders and Chronic Lung Disease
• Official Title: Surfactant Disorders Associated With Chronic Lung Disease in 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.
• Study Type: Observational
• Study Design: Observational Model: Family-Based; Time Perspective: Cross-Sectional
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples With DNA

Description:

Whole blood, plasma, DNA

• Sampling Method: Non-Probability Sample
• Study Population: French pulmonary units participating to the study
• Condition: Chronic Lung Disease

Intervention

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

Study Groups/Cohorts

1

Children with chronic lung disease

Intervention: Other: whole blood sample

Publications *

• 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.
• 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. Review. 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, Brémont 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.

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: November 16, 2012): 58
• Original Estimated Enrollment (submitted: October 31, 2008): 80
• Actual Study Completion Date: June 2012
• Actual Primary Completion Date: June 2012 (Final data collection date for primary outcome measure)

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 1 Month to 17 Years (Child)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: France

Administrative Information

• NCT Number: NCT00783978
• Other Study ID Numbers: AOM 07019
• Has Data Monitoring Committee: No
• U.S. FDA-regulated Product: Not Provided
• IPD Sharing Statement: Not Provided
• Current Responsible Party: Assistance Publique - Hôpitaux de Paris
• Original Responsible Party: Myriem Carrier, Department Clinical Research of Developpement
• Current Study Sponsor: Assistance Publique - Hôpitaux de Paris
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

Investigators

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

• PRS Account: Assistance Publique - Hôpitaux de Paris
• Verification Date: November 2012