Surfactant Disorders and Chronic Lung Disease

Study Overview
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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.

Official Title
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Surfactant Disorders Associated With Chronic Lung Disease in Children.

Conditions
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Chronic Lung Disease

Intervention / Treatment
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* Other: whole blood sample


Participation Criteria
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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

Ages Eligible for Study
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Minimum Age: 1 Month
Maximum Age: 17 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| 1<br>Children with chronic lung disease | Other: whole blood sample<br>* 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<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To assess the prevalence of SFTPC mutation in children with chronic lung diseases |  | At the inclusion visit | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To precise clinical and radiological features of children with SFTPC mutation |  | At the inclusion visit | 
| To identify environmental or genetic factors that may explain the extreme variability of this disease |  | At the inclusion visit | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Surfactant protein C, Interstitial, lung, Children