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Surfactant Disorders and Chronic Lung Disease

NCT ID: NCT00783978

Last Updated: 2012-11-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

58 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-09-30

Study Completion Date

2012-06-30

Brief Summary

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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

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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.

Conditions

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Chronic Lung Disease

Keywords

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Surfactant protein C Interstitial lung Children

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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1

Children with chronic lung disease

whole blood sample

Intervention Type 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

Interventions

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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

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

1 Month

Maximum Eligible Age

17 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Ralph Epaud, MD

Role: PRINCIPAL_INVESTIGATOR

Hopital Trousseau, APHP

Locations

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Hopital Trousseau

Paris, , France

Site Status

Countries

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France

References

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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.

Reference Type DERIVED
PMID: 24136335 (View on PubMed)

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.

Reference Type DERIVED
PMID: 23856024 (View on PubMed)

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.

Reference Type DERIVED
PMID: 22068586 (View on PubMed)

Other Identifiers

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AOM 07019

Identifier Type: -

Identifier Source: org_study_id