Epidemiology of Surfactant Protein-B Deficiency

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by Washington University School of Medicine
Sponsor:
Collaborator:
Information provided by (Responsible Party):
F. Sessions Cole, MD, Washington University School of Medicine
ClinicalTrials.gov Identifier:
NCT00014859
First received: April 11, 2001
Last updated: October 19, 2014
Last verified: October 2014
  Purpose

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
Lung Diseases
Respiratory Distress Syndrome, Newborn
Pulmonary Surfactants

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Target Follow-Up Duration: 4 Weeks
Official Title: Epidemiology of Surfactant Protein-B Deficiency

Resource links provided by NLM:


Further study details as provided by Washington University School of Medicine:

Primary Outcome Measures:
  • Statistical association of rare, functionally disruptive genomic variant with RDS [ Time Frame: 4 weeks ] [ Designated as safety issue: No ]
    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:
  • Statistical associations between risk of neonatal respiratory distress syndrome and excess, rare functional variants in gene pathways [ Time Frame: 4 weeks ] [ Designated as safety issue: No ]
    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


Estimated Enrollment: 5000
Study Start Date: June 2001
Estimated Study Completion Date: June 2019
Estimated Primary Completion Date: June 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
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

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   up to 1 Year
Genders Eligible for Study:   Both
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:

  • None
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
  More Information

Publications:
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.

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, R01HL065174
Study First Received: April 11, 2001
Last Updated: October 19, 2014
Health Authority: United States: Federal Government

Keywords provided by Washington University School of Medicine:
Pulmonary surfactant
Surfactant protein B
Surfactant protein C
ABCA3
NKX2-1

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

ClinicalTrials.gov processed this record on October 20, 2014