Genetic Regulation of Surfactant Deficiency in Human Newborn Infants

NCT00828243 COMPLETED

Inherited deficiencies in any one of 3 genes (surfactant protein B, surfactant protein C, and ATP-binding cassette transporter A3) can cause neonatal respiratory distress syndrome by disrupting metabolism of the pulmonary surfactant. The investigators will use state of the art methods to link specific changes in the genetic code of each of these genes with disruption of discrete steps in the metabolism of the pulmonary surfactant in human newborn infants. These studies will lead to improved diagnostic capabilities and suggest novel strategies to correct surfactant deficiency in newborn infants.

Details

Lead sponsor	Washington University School of Medicine
Status	COMPLETED
Enrolment	525
Start date	2007-11
Completion	2013-03

Conditions

• Respiratory Distress Syndrome, Newborn

Interventions

• Nutrient

Primary outcomes

• Association of specific variants or interactions among variants in SFTPB, SFTPC, and ABCA3 with neonatal respiratory distress syndrome — 1 week
  Statistical association of increased risk of neonatal respiratory distress in term or near term infants with specific genomic variants in SFTPB, SFTPC, and ABCA3

Countries

United States