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Surfactant Disorders and Chronic Lung Disease (APSE)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00783978
First received: October 31, 2008
Last updated: November 16, 2012
Last verified: November 2012
History of Changes
  Purpose

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 Intervention
Chronic Lung Disease
 Other: whole blood sample

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Surfactant Disorders Associated With Chronic Lung Disease in Children.

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • To assess the prevalence of SFTPC mutation in children with chronic lung diseases [ Time Frame: At the inclusion visit ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • To precise clinical and radiological features of children with SFTPC mutation [ Time Frame: At the inclusion visit ] [ Designated as safety issue: No ]
  • To identify environmental or genetic factors that may explain the extreme variability of this disease [ Time Frame: At the inclusion visit ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Whole blood, plasma, DNA


Enrollment: 58
Study Start Date: September 2009
Study Completion Date: June 2012
Primary Completion Date: June 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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
Other Name: 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.

  Eligibility

Ages Eligible for Study:   1 Month to 17 Years
Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided by Assistance Publique - Hôpitaux de Paris

Additional 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
Study First Received: October 31, 2008
Last Updated: November 16, 2012
Health Authority: France: Ministry of Health

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
Therapeutic Uses
Pharmacologic Actions

ClinicalTrials.gov processed this record on May 19, 2013