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Surfactant Disorders and Chronic Lung Disease

NCT00783978 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 58

Last updated 2012-11-19

No results posted yet for this study

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

Interventions

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

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Ralph Epaud, MD · Hopital Trousseau, APHP

Eligibility

Min Age
1 Month
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-09-30
Primary Completion
2012-06-30
Completion
2012-06-30

Countries

  • France

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00783978 on ClinicalTrials.gov