ABCA3 Gene and RDS in Late Preterm and Term Infants

NCT04137783 | Completed Results

• 1 other identifier: 00020191017
• Study Type: observational
• Target: 39
• Locations: 1 country
• Sites: 1

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

Keywords

respiratory distress syndrome; ABCA3 gene; exome sequencing

Outcome Measures

Primary Outcomes (1)

• Mortality

  the ratio of dead patients against the corresponding group population

  through study completion, an average of 1 month

Secondary Outcomes (3)

• the Onset of Respiratory Distress Syndrome

  up to 1 week

• the Age of Developing Severe RDS Marked With Oxygenation Index of 16

  through study of completion, an average of 1 month

• Radiological Score

  through study of completion, an average of 1 month

Study Arms (3)

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.

Other: no intervention

single ABCA3 mutation

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

Other: no intervention

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.

Other: no intervention

Interventions

no intervention OTHER

there is no intervention in this study, only observation.

homozygous or compound heterozygous ABCA3 mutations; no ABCA3 mutations; single ABCA3 mutation

Eligibility Criteria

• Age: Up to 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

All the infants ≥34 weeks'gestation was admitted in neonatal intensive care unit of Children's Hospital of Chongqing Medical University from January 2013 to December 2018

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Children's Hospital of Chongqing Medical University: lead

Study Sites (1)

Children's hospital of Chongqing Medical University

Chongqing, Chongqing Municipality, 400014, China

Location

MeSH Terms

Conditions

Respiratory Distress Syndrome, Newborn; Respiratory Distress Syndrome

Condition Hierarchy (Ancestors)

Lung Diseases; Respiratory Tract Diseases; Respiration Disorders; Infant, Premature, Diseases; Infant, Newborn, Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Results Point of Contact

• Title: Dr. Jianhui Wang
• Organization: Children's Hospital of Chongqing Medical University

wangjh@cqmu.edu.cn

13678428167

Study Officials

• Wang Jianhui, Doctor

  Children's Hospital of Chongqing Medical University

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Attending Doctor

Study Record Dates

• First Submitted: October 20, 2019
• First Posted: October 24, 2019
• Study Start: May 1, 2019
• Primary Completion: December 1, 2020
• Study Completion: December 1, 2020
• Last Updated: August 6, 2021
• Results First Posted: August 6, 2021

Record last verified: 2021-07

Locations

CN (1)