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ABCA3 Gene and RDS in Late Preterm and Term Infants

Respiratory Distress Syndrome, Newborn Clinical Trial

Official title:
ABCA3 Gene Mutations in Late Preterm and Term Infants With Fatal Unexplained Respiratory Distress Syndrome

Clinical Trial Summary

Respiratory distress syndrome (RDS) is the most common respiratory cause of mortality and morbidity in very preterm infants, but it also could be seen in late preterm and term infants. Some genetic mechanisms were involved in the pathogenesis of RDS in late preterm and term infants. ATP-binding cassette transporter A3 (ABCA3) is essential for the production of pulmonary surfactant, whose mutation is the most common monogenetic cause of RDS in newborns. It also takes a vital role on unexplained RDS (URDS) in late preterm and term infants. Some previous studies showed that URDS with homozygous or compound heterozygous ABCA3 mutations had high mortality, while different mutation types could lead to different outcomes. However, most of the study focused on URDS with ABCA3 gene mutations, and there is no evidence that URDS without confirmed gene mutations have relatively better or worse outcomes. Furthermore, all the population in previous study are non-Asian races, which indicated that all the study conclusion is not applicable in Asia. Based on the next-generation sequencing technology, exome sequencing has been widely used in the clinic. In our neonatal intensive care unit (NICU), a clinic exome sequencing was usually performed in infants with fatal URDS. The present study was designed to compare the URDS with ABCA3 gene mutations with those without confirmed gene mutations and to establish the relationship between various ABCA3 gene mutations and variant RDS severity and outcomes.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

  • Respiratory Distress Syndrome, Adult
  • Respiratory Distress Syndrome, Newborn
  • Syndrome
Clinical Trial Details
NCT number NCT04137783
Study type Observational
Source Children's Hospital of Chongqing Medical University
Contact
Status Completed
Phase
Start date May 1, 2019
Completion date December 1, 2020
View Details
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