Trial record 2 of 4 for:    "surfactant metabolism deficiency" [DISEASE] OR NCT00828243 [ID-NUMBER] OR NCT00014859 [ID-NUMBER]

Epidemiology of Surfactant Protein-B Deficiency

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2015 by Washington University School of Medicine
Information provided by (Responsible Party):
F. Sessions Cole, MD, Washington University School of Medicine Identifier:
First received: April 11, 2001
Last updated: June 1, 2015
Last verified: June 2015
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).

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
Primary Completion Date: June 2015 (Final data collection date for primary outcome measure)
Descriptive cohort of population-based DNA samples from the newborn screening program in Missouri with vital statistics based, linked phenotype data
Case-control cohort of infants with and without neonatal respiratory distress syndrome

  Show Detailed Description


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.

Inclusion Criteria:

  • Normal pulmonary function or a diagnosis of RDS

Exclusion Criteria:

  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 identifier: NCT00014859

United States, Missouri
Washington University School of Medicine Recruiting
St. Louis, Missouri, United States, 63110
Contact: F. Sessions Cole, MD    314-454-6148   
Sponsors and Collaborators
Washington University School of Medicine
Principal Investigator: F. Sessions Cole, MD Washington University School of Medicine
  More Information

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 Identifier: NCT00014859     History of Changes
Obsolete Identifiers: NCT00200915
Other Study ID Numbers: 967 
Study First Received: April 11, 2001
Last Updated: June 1, 2015
Health Authority: United States: Federal Government

Keywords provided by Washington University School of Medicine:
Pulmonary surfactant
Surfactant protein B
Surfactant protein C

Additional relevant MeSH terms:
Lung Diseases
Pulmonary Alveolar Proteinosis
Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Newborn
Infant, Newborn, Diseases
Infant, Premature, Diseases
Respiration Disorders
Respiratory Tract Diseases
Pulmonary Surfactants
Pharmacologic Actions
Respiratory System Agents
Therapeutic Uses processed this record on May 05, 2016