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Epidemiology of Surfactant Protein-B Deficiency

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ClinicalTrials.gov Identifier: NCT00014859
Recruitment Status : Recruiting
First Posted : April 12, 2001
Last Update Posted : June 2, 2015
Sponsor:
Information provided by (Responsible Party):
F. Sessions Cole, MD, 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) associated with increased risk of neonatal respiratory distress syndrome (RDS).

Condition or disease
Lung Diseases Respiratory Distress Syndrome, Newborn Pulmonary Surfactants

  Show Detailed Description

Study Type : Observational [Patient Registry]
Estimated Enrollment : 5000 participants
Observational Model: Case Control
Time Perspective: Prospective
Target Follow-Up Duration: 4 Weeks
Official Title: Epidemiology of Surfactant Protein-B Deficiency
Study Start Date : June 2001
Actual Primary Completion Date : June 2015
Estimated Study Completion Date : June 2019


Group/Cohort
I
Descriptive cohort of population-based DNA samples from the newborn screening program in Missouri with vital statistics based, linked phenotype data
II
Case-control cohort of infants with and without neonatal respiratory distress syndrome



Primary Outcome Measures :
  1. Statistical association of rare, functionally disruptive genomic variant with RDS [ Time Frame: 4 weeks ]
    Using custom exon capture, 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 :
  1. Statistical associations between risk of neonatal respiratory distress syndrome and excess, rare functional variants in gene pathways [ Time Frame: 4 weeks ]
    Using custom exon capture, 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


Biospecimen Retention:   Samples With DNA
DNA and tracheal aspirate samples


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Ages Eligible for Study:   up to 1 Year   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Cohort I is a population-based cohort from Missouri. Cohort II is a case-control cohort from the Neonatal Intensive Care Unit at St. Louis Children's Hospital and from patients referred from other centers.
Criteria

Inclusion Criteria:

  • Normal pulmonary function or a diagnosis of RDS

Exclusion Criteria:


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): NCT00014859


Locations
United States, Missouri
Washington University School of Medicine Recruiting
St. Louis, Missouri, United States, 63110
Contact: F. Sessions Cole, MD    314-454-6148    cole@kids.wustl.edu   
Sponsors and Collaborators
Washington University School of Medicine
Investigators
Principal Investigator: F. Sessions Cole, MD Washington University School of Medicine

Publications of Results:
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12.

Other Publications:

Responsible Party: F. Sessions Cole, MD, Professor of Pediatrics, Washington University School of Medicine
ClinicalTrials.gov Identifier: NCT00014859     History of Changes
Obsolete Identifiers: NCT00200915
Other Study ID Numbers: 967
First Posted: April 12, 2001    Key Record Dates
Last Update Posted: June 2, 2015
Last Verified: June 2015

Keywords provided by F. Sessions Cole, MD, Washington University School of Medicine:
Pulmonary surfactant
Surfactant protein B
Surfactant protein C
ABCA3
NKX2-1

Additional relevant MeSH terms:
Lung Diseases
Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Adult
Pulmonary Alveolar Proteinosis
Respiratory Tract Diseases
Respiration Disorders
Infant, Premature, Diseases
Infant, Newborn, Diseases
Pulmonary Surfactants
Respiratory System Agents