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ABCA3 Gene and RDS in Late Preterm and Term Infants

NCT04137783 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 39

Last updated 2021-08-06

Study results available
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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.

Conditions

  • Respiratory Distress Syndrome, Newborn

Interventions

OTHER

no intervention

there is no intervention in this study, only observation.

Sponsors & Collaborators

  • Children's Hospital of Chongqing Medical University

    lead OTHER

Principal Investigators

  • Wang Jianhui, Doctor · Children's Hospital of Chongqing Medical University

Eligibility

Max Age
6 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-05-01
Primary Completion
2020-12-01
Completion
2020-12-01

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04137783 on ClinicalTrials.gov