Epidemiology of Surfactant Protein-B Deficiency

Completed

• Conditions: Lung Diseases; Respiratory Distress Syndrome, Newborn; Pulmonary Surfactant; Lung Diseases, Interstitial

• Registration Number: NCT00014859
• Lead Sponsor: Washington University School of Medicine

Brief Summary

The purpose of this study is to test the hypothesis that excess, rare, functionally disruptive single nucleotide polymorphisms (SNPs) characterize genes (e.g., the surfactant protein-B gene)(SFTPB) and gene networks (e.g., the pulmonary surfactant metabolic network or other gene networks that regulate alveolar type 2 cell function) associated with increased ...

Detailed Description

BACKGROUND:
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Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2001-04-11
• Study First Submitted QC: 2001-04-11
• Study First Posted: 2001-04-12
• Study Start: 2001-06-01
• Status Verified: 2024-04
• Primary Completion: 2024-04-26
• Study Completion: 2024-04-26
• Last Update Submitted: 2024-04-26
• Last Update Posted: 2024-04-29

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 5176

Inclusion Criteria

• Normal pulmonary function or a diagnosis of RDS

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Exclusion Criteria

• None

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Statistical association of rare, functionally disruptive genomic variant with RDS	4 weeks	Using trio whole exome or whole genome sequencing, next generation sequencing, and in silico prediction of function, discover statistical associations between gene loci with excess, rare, functionally disruptive variants and risk of neonatal respiratory distress syndrome.

Secondary Outcome Measures

Name	Time	Method
Statistical associations between risk of neonatal respiratory distress syndrome and excess, rare functional variants in gene pathways	4 weeks	Using trio whole exome or whole genome sequencing, next generation sequencing, in silico prediction of functional variants, and Metacore for pathway construction, identify statistical associations between risk of neonatal respiratory distress syndrome and pathways with excess, rare functional variants

Trial Locations

Locations (1)

Washington University School of Medicine; 🇺🇸 Saint Louis, Missouri, United States