Genetic DiseaseNCT03918707
Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
An observational study of Genetic Disease and Genetic Syndrome, run by University of Illinois College of Medicine at Peoria at 1 site in United States.
Trial summary
This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. Read more about this study
- Who is it for?
- Ages 0 to 4 months
- Conditions the study is for
- Genetic Disease, Genetic Syndrome
- What is being tested?
- Rapid Whole Genome Sequencing (rWGS)
- How many people
- 115 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Jun 2019to Jan 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
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 0 to 4 months
- All sexes
- No healthy volunteers
- Child
Study population: This is a pilot study involving a prospective group of approximately 15 evaluable patients who will undergo rWGS sequencing in addition to standard of care genetic testing. Subjects in this study will be drawn from children admitted to the NICU at OSF HealthCare Children's Hospital of Illinois who meet inclusion criteria. Non English speaking patients and their families may also be approached for participation in the study. Data will also be collected from a historical control of similar patients hospitalized from January 1, 2016 - December 31, 2018.
Who may be able to join
- Patients in the NICU less than 4 months of age with complex medical presentation of unknown etiology, who have 2 or more of the following are eligible:
- critically ill* and/or organ dysfunction
- one or more major congenital anomalies
- dysmorphic features and/or abnormal growth parameters
- neurologic impairment (seizure, hypotonia, encephalopathy)
- cardiomyopathy
- features suggestive of a metabolic disorder (eg unexplained/persistent hypoglycemia or acidosis)
- critically ill - cardiorespiratory insufficiency requiring ventilatory or cardiac support
Who cannot join
- previously confirmed specific genetic diagnosis (antenatal or postnatal)
- obvious clinical findings for a specific condition that could be tested by targeted gene analysis
- preterm less than 24 weeks post-menstrual age
- ward of the state
- parent/legal guardian refusal to give consent for participation in the study
- patient does not meet eligibility criteria
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Illinois
Peoria, Illinois, 61637
About this study
This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. The aims of this study are to evaluate the turn-around time and cost of performing rapid whole genome sequencing (rWGS) compared to standard of care in the diagnosis of genetic disorders among critically ill infants in a regional children's hospital and to describe management outcomes of utilizing rWGS in acutely ill patients less than four months of age.
- Conditions
- Genetic Disease, Genetic Syndrome
- Being tested
- Rapid Whole Genome Sequencing (rWGS)
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Rapid Whole Genome Sequencing (rWGS)Diagnostic test
rWGS will be performed on blood samples from subjects in the prospective group in addition to standard of care laboratory testing and imaging studies. Blood samples will also be obtained from biological parents (if available), to determine if variants are inherited or de novo and for variant segregation.
| Study group | Role | What they receive |
|---|---|---|
| Prospective | The prospective group will consist of approximately 15 evaluable patients who will undergo rWGS sequencing in addition to standard of care genetic testing. Subjects in this study will be drawn from children admitted to the NICU at OSF HealthCare Children's Hospital of Illinois who meet inclusion criteria. Receives: Diagnostic Test: Rapid Whole Genome Sequencing (rWGS) | |
| Historical Control | The historical control group will consist of patients admitted to the NICU between January 1, 2016 and December 31, 2018 who received genetic testing at less than 4 months of age and fulfil eligibility criteria. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Turnaround Time
If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data.
We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.
Measured: Duration of individual patients hospital stay typically less than 60 days
Cost of Hospitalization until Genetic Diagnosis
If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data.
We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.
Measured: Duration of individual patients hospital stay typically less than 60 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Apr 2019
- Study start1 Jun 2019
- Primary completionJan 2022 (estimated)
- Study completionJan 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies 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
- Prospective
- Enrolment
- 115 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Illinois College of Medicine at Peoria
- Sponsor type
- University, hospital or other
- Collaborators
- Rady Children's Institute of Genomic Medicine
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03918707
- Sponsor's protocol ID
- 1346781
- Status last verified
- May 2021
- First submitted
- 4 Mar 2019
- Last updated
- 27 May 2021
- Results posted
- No
- 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 27 May 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
- ClinicalTrials.gov ID
- NCT03918707
- Acronym / sponsor ID
- 1346781
- Conditions
- Genetic Disease, Genetic Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 115 participants (estimated)
- Lead sponsor
- University of Illinois College of Medicine at PeoriaUniversity, hospital or other
- Collaborators
- Rady Children's Institute of Genomic Medicine
- Study start
- 1 Jun 2019 (actual)
- Primary completion
- Jan 2022 (estimated)
- Study completion
- Jan 2022 (estimated)
- First posted
- 17 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. The aims of this study are to evaluate the turn-around time and cost of performing rapid whole genome sequencing (rWGS) compared to standard of care in the diagnosis of genetic disorders among critically ill infants in a regional children's hospital and to describe management outcomes of utilizing rWGS in acutely ill patients less than four months of age.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Prospective | – | Diagnostic Test: Rapid Whole Genome Sequencing (rWGS)The prospective group will consist of approximately 15 evaluable patients who will undergo rWGS sequencing in addition to standard of care genetic testing. Subjects in this study will be drawn from children admitted to the NICU at OSF HealthCare Children's Hospital of Illinois who meet inclusion criteria. |
| Historical Control | – | –The historical control group will consist of patients admitted to the NICU between January 1, 2016 and December 31, 2018 who received genetic testing at less than 4 months of age and fulfil eligibility criteria. |
Who may qualify
- Ages
- 0 to 4 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- This is a pilot study involving a prospective group of approximately 15 evaluable patients who will undergo rWGS sequencing in addition to standard of care genetic testing. Subjects in this study will be drawn from children admitted to the NICU at OSF HealthCare Children's Hospital of Illinois who meet inclusion criteria. Non English speaking patients and their families may also be approached for participation in the study. Data will also be collected from a historical control of similar patients hospitalized from January 1, 2016 - December 31, 2018.
Key inclusion criteria (8 listed)
- Patients in the NICU less than 4 months of age with complex medical presentation of unknown etiology, who have 2 or more of the following are eligible:
- critically ill* and/or organ dysfunction
- one or more major congenital anomalies
- dysmorphic features and/or abnormal growth parameters
- neurologic impairment (seizure, hypotonia, encephalopathy)
Key exclusion criteria (6 listed)
- previously confirmed specific genetic diagnosis (antenatal or postnatal)
- obvious clinical findings for a specific condition that could be tested by targeted gene analysis
- preterm less than 24 weeks post-menstrual age
- ward of the state
- parent/legal guardian refusal to give consent for participation in the study
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 |
|---|---|---|
| Rapid Whole Genome Sequencing (rWGS)rWGS will be performed on blood samples from subjects in the prospective group in addition to standard of care laboratory testing and imaging studies. Blood samples will also be obtained from biological parents (if available), to determine if variants are inherited or de novo and for variant segregation. | Diagnostic test | Prospective |
Primary outcome
Turnaround Time
Time frame: Duration of individual patients hospital stay typically less than 60 days
If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data. We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.
Cost of Hospitalization until Genetic Diagnosis
Time frame: Duration of individual patients hospital stay typically less than 60 days
If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data. We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 2021.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Genetic Disease and Genetic Syndrome, run by University of Illinois College of Medicine at Peoria at 1 site in United States.
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 8 inclusion and 6 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: status not confirmed, as of the sponsor's last update on 27 May 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 United States. 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?
Results are not available in the source record.
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?
Turnaround Time (time frame: Duration of individual patients hospital stay typically less than 60 days). The study lists 2 primary outcomes in all. 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 27 May 2021.