ABCA3 Gene and RDS in Late Preterm and Term Infants

NCT ID: NCT04137783

Last Updated: 2021-08-06

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 39 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-05-01
• Study Completion Date: 2020-12-01

Brief 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

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

homozygous or compound heterozygous ABCA3 mutations

patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated homozgyous or compound heterozygous ABCA3 mutations.

no intervention

Intervention Type: OTHER

there is no intervention in this study, only observation.

single ABCA3 mutation

patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations.

no intervention

Intervention Type: OTHER

there is no intervention in this study, only observation.

no ABCA3 mutations

patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which exclude all gene mutations involving in the respiratory disease.

no intervention

Intervention Type: OTHER

there is no intervention in this study, only observation.

Interventions

no intervention

there is no intervention in this study, only observation.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• infants ≥34 weeks' gestation
• meet the fatal respiratory distress syndrome as following: (1) manifestations and chest radiograph are compatible with RDS; (2) at least 7days on invasive ventilation with FiO2 ≥60%, or persistent hypoxemic respiratory failure on FiO2 100% regardless of duration of invasive ventilation
• undergone exome sequencing

Exclusion Criteria

• culture-positive sepsis
• cardiopulmonary malformations
• pulmonary hypoplasia
• known surfactant mutations such as SFTPB, SFTPC, CHPT1, LPCAT1 and PCYT1B were excluded.

• Maximum Eligible Age: 6 Months
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Children's Hospital of Chongqing Medical University

OTHER

Sponsor Role: lead

Responsible Party

Wang Jianhui

Attending Doctor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Wang Jianhui, Doctor

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital of Chongqing Medical University

Locations

Children's hospital of Chongqing Medical University

Chongqing, Chongqing Municipality, China

Countries

China

Provided Documents

Document Type: Study Protocol and Statistical Analysis Plan

View Document

Other Identifiers

00020191017

Identifier Type: -

Identifier Source: org_study_id