Understanding the Impact of Genetics on the Risk for Respiratory Distress Syndrome in Infants - Full Text View

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Understanding the Impact of Genetics on the Risk for Respiratory Distress Syndrome in Infants

This study is currently recruiting participants.

Verified by National Heart, Lung, and Blood Institute (NHLBI), July 2009

First Received: April 11, 2001 Last Updated: July 14, 2009 History of Changes

Sponsor:	National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:	National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier:	NCT00014859

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

Study Type:	Observational
Study Design:	Case Control, Prospective
Official Title:	Epidemiology of Surfactant Protein-B Deficiency

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Biospecimen Retention: Samples With DNA

Biospecimen Description:

DNA and tracheal aspirate samples

Estimated Enrollment:	1747
Study Start Date:	June 2001
Estimated Study Completion Date:	June 2012
Estimated Primary Completion Date:	June 2012 (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

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

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

Principal Investigator:

F. Sessions Cole, MD

Washington University, St. Louis

More Information

Publications:

Hamvas A, Madden KK, Nogee LM, Trusgnich MA, Wegner DJ, Heins HB, Cole FS. Informed consent for genetic research. Arch Pediatr Adolesc Med. 2004 Jun;158(6):551-5.

Hamvas A, Wegner DJ, Trusgnich MA, Madden K, Heins H, Liu Y, Rice T, An P, Watkins-Torry J, Cole FS. Genetic variant characterization in intron 4 of the surfactant protein B gene. Hum Mutat. 2005 Nov;26(5):494-5.

Wilson RK, Ley TJ, Cole FS, Milbrandt JD, Clifton S, Fulton L, Fewell G, Minx P, Sun H, McLellan M, Pohl C, Mardis ER. Mutational profiling in the human genome. Cold Spring Harb Symp Quant Biol. 2003;68:23-9. Review. No abstract available.

Wegner DJ, Hertzberg T, Heins HB, Elmberger G, Maccoss MJ, Carlson CS, Nogee LM, Cole FS, Hamvas A. A major deletion in the surfactant protein-B gene causing lethal respiratory distress. Acta Paediatr. 2007 Apr;96(4):516-20.

Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS. Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res. 2007 Aug;62(2):170-5.

Saugstad OD, Hansen TW, Rønnestad A, Nakstad B, Tølløfsrud PA, Reinholt F, Hamvas A, Coles FS, Dean M, Wert SE, Whitsett JA, Nogee LM. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr. 2007 Feb;96(2):185-90.

Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008 Jun;63(6):645-9.

McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, Hamvas A. Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol. 2008 May;43(5):443-50.

Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, Yang P, Carlson CS, An P, Cole FS. Developmental and genetic regulation of human surfactant protein B in vivo. Neonatology. 2009;95(2):117-24. Epub 2008 Sep 6.

Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Quantification of rare allelic variants from pooled genomic DNA. Nat Methods. 2009 Apr;6(4):263-5. Epub 2009 Mar 1.

Nogee LM. Abnormal expression of surfactant protein C and lung disease. Am J Respir Cell Mol Biol. 2002 Jun;26(6):641-4. No abstract available.

Merchak A, Janssen DJ, Bohlin K, Patterson BW, Zimmermann LJ, Carnielli VP, Hamvas A. Endogenous pulmonary surfactant metabolism is not affected by mode of ventilation in premature infants with respiratory distress syndrome. J Pediatr. 2002 Jun;140(6):693-8.

Cole FS. Surfactant protein B: unambiguously necessary for adult pulmonary function. Am J Physiol Lung Cell Mol Physiol. 2003 Sep;285(3):L540-2. Review. No abstract available.

Nogee LM. Genetic mechanisms of surfactant deficiency. Biol Neonate. 2004;85(4):314-8. Epub 2004 Jun 08.

Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Mendeloff EN, Hsu FF, Wert SE, Gonzales LW, Beers MF, Ballard PL. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol. 2004 Jun;30(6):771-6. Epub 2003 Dec 04.

Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr. 2005 Mar;146(3):370-5.

Palomar LM, Nogee LM, Sweet SC, Huddleston CB, Cole FS, Hamvas A. Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure. J Pediatr. 2006 Oct;149(4):548-553.

Cole FS, Nogee LM, Hamvas A. Defects in Surfactant Synthesis: Clinical Implications. Pediatr Clin North Am. 2006 Oct;53(5):911-927. No abstract available.

Responsible Party:	Washington University School of Medicine ( F. Sessions Cole, MD )
Study ID Numbers:	967, R01 HL65174
Study First Received:	April 11, 2001
Last Updated:	July 14, 2009
ClinicalTrials.gov Identifier:	NCT00014859 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Heart, Lung, and Blood Institute (NHLBI):

Pulmonary surfactant
Surfactant protein B
Surfactant protein C

Additional relevant MeSH terms:

Respiratory System Agents
Disease
Respiratory Distress Syndrome, Adult
Respiration Disorders
Respiratory Distress Syndrome, Newborn
Infant, Premature, Diseases
Pharmacologic Actions

Pathologic Processes
Respiratory Tract Diseases
Lung Diseases
Syndrome
Therapeutic Uses
Infant, Newborn, Diseases
Pulmonary Surfactants

ClinicalTrials.gov processed this record on November 09, 2009