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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
| |
| single ABCA3 mutation | patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations. |
| |
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| no intervention | Other | there is no intervention in this study, only observation. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Mortality | the ratio of dead patients against the corresponding group population | through study completion, an average of 1 month |
| Measure | Description | Time Frame |
|---|---|---|
| the Onset of Respiratory Distress Syndrome | the age when the patients presented with respiratory distress sydnrome | up to 1 week |
| the Age of Developing Severe RDS Marked With Oxygenation Index of 16 |
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Inclusion Criteria:
Exclusion Criteria:
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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
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| Name | Affiliation | Role |
|---|---|---|
| Wang Jianhui, Doctor | Children's Hospital of Chongqing Medical University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's hospital of Chongqing Medical University | Chongqing | Chongqing Municipality | 400014 | China |
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| ID | Title | Description |
|---|---|---|
| FG000 | 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. |
| FG001 | 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. |
| FG002 | 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. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | 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. |
| BG001 |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Customized | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Mortality | the ratio of dead patients against the corresponding group population | Posted | Count of Participants | Participants | through study completion, an average of 1 month |
|
through study completion, an average of 1 month
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | 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. |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Jianhui Wang | Children's Hospital of Chongqing Medical University | 13678428167 | wangjh@cqmu.edu.cn |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Mar 16, 2021 | Jun 21, 2021 | Prot_SAP_000.pdf |
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| ID | Term |
|---|---|
| D012127 | Respiratory Distress Syndrome, Newborn |
| D012128 | Respiratory Distress Syndrome |
| ID | Term |
|---|---|
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
| D012120 | Respiration Disorders |
| D007235 | Infant, Premature, Diseases |
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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 |
| 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 |
| 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. |
| BG002 | 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. |
| BG003 | Total | Total of all reporting groups |
| weeks |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| Birthweight(grams) | Mean | Standard Deviation | grams |
|
| Cesarean section (n, %) | Count of Participants | Participants |
|
| Resuscitation (n, %) | Count of Participants | Participants |
|
| Fetal distress (n, %) | Count of Participants | Participants |
|
| Meconium stained amniotic fluid (n, %) | Count of Participants | Participants |
|
| Maternal history | Count of Participants | Participants |
|
| OG002 | 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. |
|
|
| Secondary | the Onset of Respiratory Distress Syndrome | the age when the patients presented with respiratory distress sydnrome | Posted | Mean | Full Range | hours | 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 | Posted | Mean | Full Range | days | 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. | Posted | Mean | Standard Deviation | score on a scale | through study of completion, an average of 1 month |
|
|
|
| 5 |
| 7 |
| 0 |
| 7 |
| 0 |
| 7 |
| EG001 | 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. | 3 | 10 | 0 | 10 | 0 | 10 |
| EG002 | 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. | 11 | 22 | 0 | 22 | 0 | 22 |
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| D007232 | Infant, Newborn, Diseases |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
|
| air bronchogram |
|
| atelectasis |
|
| air leakage |
|
| cysts |
|