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Surfactant Disorders and Chronic Lung Disease (APSE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00783978
Recruitment Status : Completed
First Posted : November 2, 2008
Last Update Posted : November 19, 2012
Sponsor:
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
Change History
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 *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
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
Removed Location Countries  
 
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