Trial Outcomes & Findings for ABCA3 Gene and RDS in Late Preterm and Term Infants (NCT NCT04137783)
NCT ID: NCT04137783
Last Updated: 2021-08-06
Results Overview
the ratio of dead patients against the corresponding group population
Recruitment status
COMPLETED
Target enrollment
39 participants
Primary outcome timeframe
through study completion, an average of 1 month
Results posted on
2021-08-06
Participant Flow
Participant milestones
| Measure |
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: 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: 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: there is no intervention in this study, only observation.
|
|---|---|---|---|
|
Overall Study
STARTED
|
7
|
10
|
22
|
|
Overall Study
COMPLETED
|
7
|
10
|
22
|
|
Overall Study
NOT COMPLETED
|
0
|
0
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
ABCA3 Gene and RDS in Late Preterm and Term Infants
Baseline characteristics by cohort
| Measure |
Homozygous or Compound Heterozygous ABCA3 Mutations
n=7 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated homozgyous or compound heterozygous ABCA3 mutations.
no intervention: there is no intervention in this study, only observation.
|
Single ABCA3 Mutation
n=10 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations.
no intervention: there is no intervention in this study, only observation.
|
no ABCA3 Mutations
n=22 Participants
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: there is no intervention in this study, only observation.
|
Total
n=39 Participants
Total of all reporting groups
|
|---|---|---|---|---|
|
Age, Customized
Gestational age
|
36.85 weeks
STANDARD_DEVIATION 2.12 • n=93 Participants
|
36.80 weeks
STANDARD_DEVIATION 1.81 • n=4 Participants
|
37.27 weeks
STANDARD_DEVIATION 2.27 • n=27 Participants
|
37.08 weeks
STANDARD_DEVIATION 2.09 • n=483 Participants
|
|
Sex: Female, Male
Female
|
3 Participants
n=93 Participants
|
5 Participants
n=4 Participants
|
10 Participants
n=27 Participants
|
18 Participants
n=483 Participants
|
|
Sex: Female, Male
Male
|
4 Participants
n=93 Participants
|
5 Participants
n=4 Participants
|
12 Participants
n=27 Participants
|
21 Participants
n=483 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=93 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=27 Participants
|
0 Participants
n=483 Participants
|
|
Race (NIH/OMB)
Asian
|
7 Participants
n=93 Participants
|
10 Participants
n=4 Participants
|
22 Participants
n=27 Participants
|
39 Participants
n=483 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=93 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=27 Participants
|
0 Participants
n=483 Participants
|
|
Race (NIH/OMB)
Black or African American
|
0 Participants
n=93 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=27 Participants
|
0 Participants
n=483 Participants
|
|
Race (NIH/OMB)
White
|
0 Participants
n=93 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=27 Participants
|
0 Participants
n=483 Participants
|
|
Race (NIH/OMB)
More than one race
|
0 Participants
n=93 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=27 Participants
|
0 Participants
n=483 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=93 Participants
|
0 Participants
n=4 Participants
|
0 Participants
n=27 Participants
|
0 Participants
n=483 Participants
|
|
Birthweight(grams)
|
2996.57 grams
STANDARD_DEVIATION 351.92 • n=93 Participants
|
2934.10 grams
STANDARD_DEVIATION 517.68 • n=4 Participants
|
3043.59 grams
STANDARD_DEVIATION 358.03 • n=27 Participants
|
3007.08 grams
STANDARD_DEVIATION 395.04 • n=483 Participants
|
|
Cesarean section (n, %)
|
5 Participants
n=93 Participants
|
5 Participants
n=4 Participants
|
14 Participants
n=27 Participants
|
24 Participants
n=483 Participants
|
|
Resuscitation (n, %)
|
4 Participants
n=93 Participants
|
4 Participants
n=4 Participants
|
6 Participants
n=27 Participants
|
14 Participants
n=483 Participants
|
|
Fetal distress (n, %)
|
2 Participants
n=93 Participants
|
3 Participants
n=4 Participants
|
4 Participants
n=27 Participants
|
9 Participants
n=483 Participants
|
|
Meconium stained amniotic fluid (n, %)
|
2 Participants
n=93 Participants
|
2 Participants
n=4 Participants
|
3 Participants
n=27 Participants
|
7 Participants
n=483 Participants
|
|
Maternal history
premature rupture of membrane
|
2 Participants
n=93 Participants
|
3 Participants
n=4 Participants
|
5 Participants
n=27 Participants
|
10 Participants
n=483 Participants
|
|
Maternal history
gestational diabetes mellitus
|
2 Participants
n=93 Participants
|
2 Participants
n=4 Participants
|
7 Participants
n=27 Participants
|
11 Participants
n=483 Participants
|
|
Maternal history
Preeclampsia
|
1 Participants
n=93 Participants
|
1 Participants
n=4 Participants
|
3 Participants
n=27 Participants
|
5 Participants
n=483 Participants
|
PRIMARY outcome
Timeframe: through study completion, an average of 1 monththe ratio of dead patients against the corresponding group population
Outcome measures
| Measure |
Homozygous or Compound Heterozygous ABCA3 Mutations
n=7 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated homozgyous or compound heterozygous ABCA3 mutations.
no intervention: there is no intervention in this study, only observation.
|
Single ABCA3 Mutation
n=10 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations.
no intervention: there is no intervention in this study, only observation.
|
no ABCA3 Mutations
n=12 Participants
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: there is no intervention in this study, only observation.
|
|---|---|---|---|
|
Mortality
|
5 Participants
|
3 Participants
|
5 Participants
|
SECONDARY outcome
Timeframe: up to 1 weekthe age when the patients presented with respiratory distress sydnrome
Outcome measures
| Measure |
Homozygous or Compound Heterozygous ABCA3 Mutations
n=7 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated homozgyous or compound heterozygous ABCA3 mutations.
no intervention: there is no intervention in this study, only observation.
|
Single ABCA3 Mutation
n=10 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations.
no intervention: there is no intervention in this study, only observation.
|
no ABCA3 Mutations
n=12 Participants
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: there is no intervention in this study, only observation.
|
|---|---|---|---|
|
the Onset of Respiratory Distress Syndrome
|
1.83 hours
Interval 0.1 to 5.0
|
4.6 hours
Interval 1.0 to 10.0
|
5.24 hours
Interval 0.1 to 13.0
|
SECONDARY outcome
Timeframe: through study of completion, an average of 1 monththe age when the patients develop severe RDS,which is marked with an oxygenation index of 16
Outcome measures
| Measure |
Homozygous or Compound Heterozygous ABCA3 Mutations
n=7 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated homozgyous or compound heterozygous ABCA3 mutations.
no intervention: there is no intervention in this study, only observation.
|
Single ABCA3 Mutation
n=10 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations.
no intervention: there is no intervention in this study, only observation.
|
no ABCA3 Mutations
n=12 Participants
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: there is no intervention in this study, only observation.
|
|---|---|---|---|
|
the Age of Developing Severe RDS Marked With Oxygenation Index of 16
|
1.06 days
Interval 0.1 to 2.0
|
5.3 days
Interval 2.0 to 15.0
|
4.5 days
Interval 1.0 to 11.0
|
SECONDARY outcome
Timeframe: through study of completion, an average of 1 monthThe 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.
Outcome measures
| Measure |
Homozygous or Compound Heterozygous ABCA3 Mutations
n=7 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated homozgyous or compound heterozygous ABCA3 mutations.
no intervention: there is no intervention in this study, only observation.
|
Single ABCA3 Mutation
n=10 Participants
patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations.
no intervention: there is no intervention in this study, only observation.
|
no ABCA3 Mutations
n=12 Participants
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: there is no intervention in this study, only observation.
|
|---|---|---|---|
|
Radiological Score
ground glass opacity
|
15.29 score on a scale
Standard Deviation 1.38
|
12.90 score on a scale
Standard Deviation 2.03
|
10.77 score on a scale
Standard Deviation 1.95
|
|
Radiological Score
reticular pattern
|
15.14 score on a scale
Standard Deviation 1.22
|
14.90 score on a scale
Standard Deviation 0.88
|
13.23 score on a scale
Standard Deviation 2.11
|
|
Radiological Score
air bronchogram
|
11.86 score on a scale
Standard Deviation 2.34
|
11.00 score on a scale
Standard Deviation 1.25
|
7.86 score on a scale
Standard Deviation 3.09
|
|
Radiological Score
atelectasis
|
5.57 score on a scale
Standard Deviation 2.82
|
3.20 score on a scale
Standard Deviation 2.35
|
2.64 score on a scale
Standard Deviation 0.91
|
|
Radiological Score
air leakage
|
1.43 score on a scale
Standard Deviation 1.99
|
1.20 score on a scale
Standard Deviation 1.40
|
0.91 score on a scale
Standard Deviation 1.07
|
|
Radiological Score
cysts
|
1.86 score on a scale
Standard Deviation 2.04
|
1.00 score on a scale
Standard Deviation 1.25
|
0.50 score on a scale
Standard Deviation 0.86
|
Adverse Events
Homozygous or Compound Heterozygous ABCA3 Mutations
Serious events: 0 serious events
Other events: 0 other events
Deaths: 5 deaths
Single ABCA3 Mutation
Serious events: 0 serious events
Other events: 0 other events
Deaths: 3 deaths
no ABCA3 Mutations
Serious events: 0 serious events
Other events: 0 other events
Deaths: 11 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Dr. Jianhui Wang
Children's Hospital of Chongqing Medical University
Phone: 13678428167
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place