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ABCA3 gene mutations in term and late preterm infants with fatal unexplained respiratory distress syndrome

ABCA3 gene mutations in term and late preterm infants with fatal unexplained respiratory distress syndrome

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR1800020219
Enrollment
Unknown
Registered
2018-12-20
Start date
2019-01-01
Completion date
Unknown
Last updated
2019-01-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

neonatal respiratory distress syndrome

Interventions

Case series:Nil

Sponsors

Children's Hospital of Chongqing Medical University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1. GA=32weeks; 2. severe RDS, which was defined in this study as following: (1) the manifestations and chest radiograph are compatible with RDS; (2) at least 7days on invasive ventilation with FiO2 =60%, or SPO2=85% on FiO2 100% regardless of duration of invasive ventilation; (3) PS supplement was given; 3. the exome panel of respiratory disease or the whole exome sequencing was performed.

Exclusion criteria

Exclusion criteria: Infants with culture-confirmed sepsis, cardiopulmonary malformations, pulmonary hypoplasia, known surfactant mutations such as SFTPB, SFTPC, CHPT1, LPCAT1 and PCYT1B were excluded.

Design outcomes

Primary

MeasureTime frame
mortality;—

Secondary

MeasureTime frame
time of onset;duration of invasive mechanical ventilation;radiography scoring;—

Countries

China

Contacts

Public ContactWang Jianhui

Children's Hospital of Chongqing Medical University

wangjh805@126.com+86 13678428167

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026