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 Details — Status: Completed

Administrative data

• NCT number: NCT04137783
• Other study ID #: 00020191017
• Status: Completed
• Start date: May 1, 2019
• Est. completion date: December 1, 2020

Study information

• Verified date: July 2021
• Source: Children's Hospital of Chongqing Medical University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 39
• Est. completion date: December 1, 2020
• Est. primary completion date: December 1, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 6 Months

Eligibility

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.

Related Conditions & MeSH terms

• Respiratory Distress Syndrome, Adult
• Respiratory Distress Syndrome, Newborn
• Syndrome

Intervention

Other:
• no intervention
there is no intervention in this study, only observation.

Locations

Country	Name	City	State
China	Children's hospital of Chongqing Medical University	Chongqing	Chongqing

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital of Chongqing Medical University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Mortality	the ratio of dead patients against the corresponding group population	through study completion, an average of 1 month
Secondary	the Onset of Respiratory Distress Syndrome	the age when the patients presented with respiratory distress sydnrome	up to 1 week
Secondary	the Age of Developing Severe RDS Marked With Oxygenation Index of 16	the age when the patients develop severe RDS,which is marked with an oxygenation index of 16	through study of completion, an average of 1 month
Secondary	Radiological Score	The chest x-ray was rated in three sections on both sides of the lung: apex to the carina, carina to the lower pulmonary vein, and lower pulmonary vein to diaphragm. The incidence of radiological features, including ground-glass opacity, reticular pattern, air bronchogram, atelectasis, and air leak, was evaluated for each lung section, respectively. Each finding was scored as 0=none, 1=discrete,2=diffuse, and 3= strong at each section. An overall cumulative score was calculated by adding the individual section scores together, making a minimum of 0, and a maximum of 18 for each patient. Higher scores mean the higher severity of the radiological apperance, and commonly predict worse respiratory outcomes.	through study of completion, an average of 1 month