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Surfactant Disorders and Chronic Lung Disease (APSE)

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ClinicalTrials.gov Identifier: NCT00783978
Recruitment Status : Completed
First Posted : November 3, 2008
Last Update Posted : November 19, 2012
Sponsor:
Information provided by (Responsible Party):

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
Primary Completion Date : June 2012
Study Completion Date : June 2012

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Lung Diseases
U.S. FDA Resources

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

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00783978


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):
Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT00783978     History of Changes
Other Study ID Numbers: AOM 07019
First Posted: November 3, 2008    Key Record Dates
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
Pulmonary Surfactants
Respiratory System Agents