Genetic DiseaseNCT06276348
Newborn Genomic Sequencing Pilot Study
A study testing Whole genome sequencing, BeginNGS test and WES in people with Genetic Disease, run by Rady Pediatric Genomics & Systems Medicine Institute at 1 site in United States.
Trial summary
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled. Read more about this study
- Who is it for?
- Ages 1 day to 10 daysHealthy volunteers can take part
- Conditions the study is for
- Genetic Disease
- What is being tested?
- Whole genome sequencing, BeginNGS test and WES
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 120 participants
- Where
- 1 siteUnited States
- Study dates
- 13 Mar 2023to 12 Nov 2024
- Phase
- Interventional
- 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 1 day to 10 days
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- Neonates less than or equal to 10 days old who are admitted to the RCHSD NICU.
Who cannot join
- Neonates who have enrolled in another clinical study at Rady Children's Institute for Genomic Medicine or in whom DWGS has been ordered or is being considered.
- Neonates whose mother is less than 18 years of age.
- Neonates who are wards of the state.
- Neonates whose parent/legal guardian is unable to provide consent.
Trial locations and contacts
1 site in 1 country.
United States1 site
Rady Children's Hospital San Diego
San Diego, California, 92123
About this study
Official title: Newborn Genomic Sequencing (BeginNGS) Prospective Pilot Study
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled. The main questions this study aims to answer are:
- What is the diagnostic yield of diagnostic whole genome sequencing (DWGS) in this population?
- What is the diagnostic sensitivity and specificity of BeginNGS and whole exome sequencing (WES) as compared to DWGS?
- What are the potential issues related to implementing DWGS in this population?
Read more
Enrolled newborns will have a blood sample taken and will receive three tests:
- DWGS
- BeginNGS
- WES
Read the detailed description
Newborn screening (NBS) by testing dried blood spots (DBS) identifies newborns with a few diseases for which effective treatments are available to enable treatment at or before symptom onset. Because NBS improves outcomes in these diseases, it is performed on almost all US babies. The current Federal recommended NBS list is limited to 35 conditions and identifies ~6,600 affected children per year. In genetic diseases not screened by NBS, however, outcomes remain poor because of delays in diagnosis and treatment. The investigators recently developed a system for NBS for 434 severe, childhood genetic diseases for which effective treatments are available using whole genome sequencing (WGS), called BeginNGS. Retrospective studies showed BeginNGS to have a true negative rate (specificity) of 99.7% and true positive rate (sensitivity) of 88.8%. The investigators now propose to undertake a first prospective study in newborns admitted to the Neonatal Intensive Care Unit (NICU) at Rady Children's Hospital, San Diego (RCHSD) to compare the sensitivity and specificity of BeginNGS with that of standard, diagnostic rapid whole genome sequencing (DWGS) and whole exome sequencing (WES). This study is in preparation for larger, future clinical trials.
- Conditions
- Genetic Disease
- Being tested
- Whole genome sequencing, BeginNGS test, WES
- 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.
Whole genome sequencingGenetic
Standard diagnostic whole genome sequencing will be performed.
BeginNGS testGenetic
Genomic sequencing that screens for 434 genetic diseases.
WESGenetic
Whole exome sequencing will be performed.
| Study group | Role | What they receive |
|---|---|---|
| Enrollees | Experimental | Enrolled infants will receive 3 tests (DWGS, BeginNGS, and WES). DWGS will be performed in a standard manner. BeginNGS and WES will be performed in a batch after completion of enrollment. The diagnostic sensitivity and specificity of BeginNGS and WES will be compared to DWGS (a standard clinical test compliant with the Clinical Laboratory Improvement Amendments Act). Receives: Genetic: Whole genome sequencing; Genetic: BeginNGS test; Genetic: WES |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of enrolled infants who are diagnosed with a genetic disease by DWGS.
Proportion
Measured: 18 months
Secondary outcomes (8)
Proportion of enrolled infants who are identified with a genetic disease by BeginNGS.
Proportion
Measured: 18 months
Proportion of enrolled infants who are identified with a genetic disease by WES.
Proportion
Measured: 18 months
Proportion of enrolled infants who have a positive standard NBS test.
Proportion
Measured: 18 months
Proportion of parents approached who agree to participate in the study.
Proportion
Measured: 18 months
Parental reasons for refusal.
Questionnaire
Measured: 18 months
Time from sample arriving in lab to return of DWGS results.
Time (days)
Measured: 18 months
Time from birth to return of DWGS results.
Time (days)
Measured: 18 months
Results of confirmatory testing if BeginNGS or WES identifies a diagnostic finding not reported by DWGS.
Proportion of findings confirmed
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2024
- Study start13 Mar 2023
- Primary completion28 Feb 2024
- Study completion12 Nov 2024
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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Single group, multiple interventions. All enrollees receive all interventions.
- Masking
- None (open label)
- Enrolment
- 120 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stephen F. Kingsmore, Rady Pediatric Genomics & Systems Medicine Institute
- Investigators
- Stephen Kingsmore, MD DSc, Principal investigator, Rady Children's Institute for Genomic Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06276348
- Sponsor's protocol ID
- 20226892
- Status last verified
- Nov 2024
- First submitted
- 16 Feb 2024
- Last updated
- 14 Nov 2024
- 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 14 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Newborn Genomic Sequencing (BeginNGS) Prospective Pilot Study
- ClinicalTrials.gov ID
- NCT06276348
- Acronym / sponsor ID
- 20226892
- Conditions
- Genetic Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 120 participants (actual)
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine InstituteUniversity, hospital or other
- Study start
- 13 Mar 2023 (actual)
- Primary completion
- 28 Feb 2024 (actual)
- Study completion
- 12 Nov 2024 (actual)
- First posted
- 26 Feb 2024 (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.
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled. The main questions this study aims to answer are:
- What is the diagnostic yield of diagnostic whole genome sequencing (DWGS) in this population?
- What is the diagnostic sensitivity and specificity of BeginNGS and whole exome sequencing (WES) as compared to DWGS?
- What are the potential issues related to implementing DWGS in this population?
Enrolled newborns will have a blood sample taken and will receive three tests:
- DWGS
- BeginNGS
- WES
Detailed description
Newborn screening (NBS) by testing dried blood spots (DBS) identifies newborns with a few diseases for which effective treatments are available to enable treatment at or before symptom onset. Because NBS improves outcomes in these diseases, it is performed on almost all US babies. The current Federal recommended NBS list is limited to 35 conditions and identifies ~6,600 affected children per year. In genetic diseases not screened by NBS, however, outcomes remain poor because of delays in diagnosis and treatment. The investigators recently developed a system for NBS for 434 severe, childhood genetic diseases for which effective treatments are available using whole genome sequencing (WGS), called BeginNGS. Retrospective studies showed BeginNGS to have a true negative rate (specificity) of 99.7% and true positive rate (sensitivity) of 88.8%. The investigators now propose to undertake a first prospective study in newborns admitted to the Neonatal Intensive Care Unit (NICU) at Rady Children's Hospital, San Diego (RCHSD) to compare the sensitivity and specificity of BeginNGS with that of standard, diagnostic rapid whole genome sequencing (DWGS) and whole exome sequencing (WES). This study is in preparation for larger, future clinical trials.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single group, multiple interventions. All enrollees receive all interventions.
| Arm | Type | Receives |
|---|---|---|
| Enrollees | Experimental | Genetic: Whole genome sequencing, Genetic: BeginNGS test, Genetic: WESEnrolled infants will receive 3 tests (DWGS, BeginNGS, and WES). DWGS will be performed in a standard manner. BeginNGS and WES will be performed in a batch after completion of enrollment. The diagnostic sensitivity and specificity of BeginNGS and WES will be compared to DWGS (a standard clinical test compliant with the Clinical Laboratory Improvement Amendments Act). |
Who may qualify
- Ages
- 1 day to 10 days
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (1 listed)
- Neonates less than or equal to 10 days old who are admitted to the RCHSD NICU.
Key exclusion criteria (4 listed)
- Neonates who have enrolled in another clinical study at Rady Children's Institute for Genomic Medicine or in whom DWGS has been ordered or is being considered.
- Neonates whose mother is less than 18 years of age.
- Neonates who are wards of the state.
- Neonates whose parent/legal guardian is unable to provide consent.
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 |
|---|---|---|
| Whole genome sequencingStandard diagnostic whole genome sequencing will be performed. | Genetic | Enrollees |
| BeginNGS testGenomic sequencing that screens for 434 genetic diseases. | Genetic | Enrollees |
| WESWhole exome sequencing will be performed. | Genetic | Enrollees |
Primary outcome
Proportion of enrolled infants who are diagnosed with a genetic disease by DWGS.
Time frame: 18 months
Proportion
8 secondary outcomes
Proportion of enrolled infants who are identified with a genetic disease by BeginNGS.
Time frame: 18 months
Proportion of enrolled infants who are identified with a genetic disease by WES.
Time frame: 18 months
Proportion of enrolled infants who have a positive standard NBS test.
Time frame: 18 months
Proportion of parents approached who agree to participate in the study.
Time frame: 18 months
Parental reasons for refusal.
Time frame: 18 months
Time from sample arriving in lab to return of DWGS results.
Time frame: 18 months
Time from birth to return of DWGS results.
Time frame: 18 months
Results of confirmatory testing if BeginNGS or WES identifies a diagnostic finding not reported by DWGS.
Time frame: 18 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Nov 2024.
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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.
Stephen Kingsmore, MD DSc principal investigator
Rady Children's Institute for Genomic Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole genome sequencing, BeginNGS test and WES in people with Genetic Disease, run by Rady Pediatric Genomics & Systems Medicine Institute 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 1 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 14 Nov 2024. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Proportion of enrolled infants who are diagnosed with a genetic disease by DWGS. (time frame: 18 months). 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 14 Nov 2024.