Respiratory Distress Syndrome, NewbornNCT04137783
ABCA3 Gene and RDS in Late Preterm and Term Infants
An observational study of Respiratory Distress Syndrome, Newborn, run by Children's Hospital of Chongqing Medical University at 1 site in China.
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. Read more about this study
- Who is it for?
- Ages Up to 6 months
- Conditions the study is for
- Respiratory Distress Syndrome, Newborn
- How many people
- 39 participants
- Where
- 1 siteChina
- Study dates
- 1 May 2019to 1 Dec 2020
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 6 months
- All sexes
- No healthy volunteers
- Child
Study population: 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
Who may be able to join
- 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
Who cannot join
- culture-positive sepsis
- cardiopulmonary malformations
- pulmonary hypoplasia
- known surfactant mutations such as SFTPB, SFTPC, CHPT1, LPCAT1 and PCYT1B were excluded.
Trial locations and contacts
1 site in 1 country.
China1 site
Children's hospital of Chongqing Medical University
Chongqing, Chongqing Municipality, 400014
About this study
Official title: ABCA3 Gene Mutations in Late Preterm and Term Infants With Fatal Unexplained Respiratory Distress Syndrome
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.
- Conditions
- Respiratory Distress Syndrome, Newborn
- Being tested
- no intervention
- Keywords
- respiratory distress syndrome, ABCA3 gene, exome sequencing
- Medical subject headings
- Respiratory Distress Syndrome, Newborn, Respiratory Distress Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
no interventionOther
there is no intervention in this study, only observation.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: no intervention | |
| single ABCA3 mutation | patients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations. Receives: Other: no intervention | |
| 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. Receives: Other: no intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Mortality
the ratio of dead patients against the corresponding group population
Measured: through study completion, an average of 1 month
Secondary outcomes (3)
the Onset of Respiratory Distress Syndrome
the age when the patients presented with respiratory distress sydnrome
Measured: up to 1 week
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
Measured: 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.
Measured: through study of completion, an average of 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Oct 2019
- Study start1 May 2019
- Primary completion1 Dec 2020
- Study completion1 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Respiratory Distress Syndrome, NewbornStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 39 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Chongqing Medical University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Wang Jianhui, Children's Hospital of Chongqing Medical University
- Investigators
- Wang Jianhui, Doctor, Principal investigator, Children's Hospital of Chongqing Medical University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04137783
- Sponsor's protocol ID
- 00020191017
- Status last verified
- Jul 2021
- First submitted
- 20 Oct 2019
- Last updated
- 6 Aug 2021
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ABCA3 Gene Mutations in Late Preterm and Term Infants With Fatal Unexplained Respiratory Distress Syndrome
- ClinicalTrials.gov ID
- NCT04137783
- Acronym / sponsor ID
- 00020191017
- Conditions
- Respiratory Distress Syndrome, Newborn
- Keywords
- respiratory distress syndrome, ABCA3 gene, exome sequencing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 39 participants (actual)
- Lead sponsor
- Children's Hospital of Chongqing Medical UniversityUniversity, hospital or other
- Study start
- 1 May 2019 (actual)
- Primary completion
- 1 Dec 2020 (actual)
- Study completion
- 1 Dec 2020 (actual)
- First posted
- 24 Oct 2019 (actual)
- Results
- Posted 6 Aug 2021
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| homozygous or compound heterozygous ABCA3 mutations | – | Other: no interventionpatients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated homozgyous or compound heterozygous ABCA3 mutations. |
| single ABCA3 mutation | – | Other: no interventionpatients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which indicated single mutations. |
| no ABCA3 mutations | – | Other: no interventionpatients meet the criteria for fatal respiratory distress sydrome and undergone exome sequencing, which exclude all gene mutations involving in the respiratory disease. |
Who may qualify
- Ages
- Up to 6 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- 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
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- culture-positive sepsis
- cardiopulmonary malformations
- pulmonary hypoplasia
- known surfactant mutations such as SFTPB, SFTPC, CHPT1, LPCAT1 and PCYT1B were excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| no interventionthere is no intervention in this study, only observation. | Other | homozygous or compound heterozygous ABCA3 mutations, no ABCA3 mutations, single ABCA3 mutation |
Primary outcome
Mortality
Time frame: through study completion, an average of 1 month
the ratio of dead patients against the corresponding group population
3 secondary outcomes
the Onset of Respiratory Distress Syndrome
Time frame: up to 1 week
the Age of Developing Severe RDS Marked With Oxygenation Index of 16
Time frame: through study of completion, an average of 1 month
Radiological Score
Time frame: through study of completion, an average of 1 month
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Aug 2021.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Wang Jianhui, Doctor principal investigator
Children's Hospital of Chongqing Medical University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Respiratory Distress Syndrome, Newborn, run by Children's Hospital of Chongqing Medical University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Aug 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 6 Aug 2021). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mortality (time frame: through study completion, an average of 1 month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Aug 2021.