Ignite Creation Date:
2024-05-06 @ 1:48 PM
Last Modification Date:
2024-10-26 @ 1:20 PM
Study NCT ID:
NCT04137783
Status:
COMPLETED
Last Update Posted:
2021-08-06
First Post:
2019-10-20
Brief Title:
ABCA3 Gene and RDS in Late Preterm and Term Infants
Sponsor:
Childrens Hospital of Chongqing Medical University
Organization:
Childrens Hospital of Chongqing Medical University
Study Overview
Official Title:
ABCA3 Gene Mutations in Late Preterm and Term Infants With Fatal Unexplained Respiratory Distress Syndrome
Status:
COMPLETED
Status Verified Date:
2021-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None