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Genomic Sequencing
Enrollees for Genetic Disorder
N/A
Waitlist Available
Led By Charlotte Hobbs, MD PhD
Research Sponsored by Rady Pediatric Genomics & Systems Medicine Institute
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial Must have
Neonates less than or equal to 10 days old who are admitted to the RCHSD NICU.
Be younger than 18 years old
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 18 months
Awards & highlights
Study Summary
This trial aims to test a new method, called BeginNGS, for screening newborns using whole genome sequencing at Rady Children's Hospital in San Diego. They want to see how effective this method
Who is the study for?
This trial is for newborns without suspected genetic diseases, admitted to the NICU at Rady Children's Hospital in San Diego. It aims to evaluate a new genome sequencing method (BeginNGS) alongside whole genome and exome sequencing.Check my eligibility
What is being tested?
The study tests BeginNGS against standard diagnostic whole genome sequencing (DWGS) and whole exome sequencing (WES). It will assess how well these methods identify genetic disorders in newborns by comparing their accuracy and efficiency.See study design
What are the potential side effects?
Since this trial involves non-invasive genomic testing, there are no direct physical side effects from the interventions themselves. However, potential issues may arise from data interpretation or privacy concerns related to genetic information.
Eligibility Criteria
Inclusion Criteria
You may be eligible if you check “Yes” for the criteria belowSelect...
My newborn is 10 days old or younger and in the RCHSD NICU.
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ 18 months
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~18 months
Treatment Details
Study Objectives
Outcome measures can provide a clearer picture of what you can expect from a treatment.Primary outcome measures
Proportion of enrolled infants who are diagnosed with a genetic disease by DWGS.
Secondary outcome measures
Parental reasons for refusal.
Proportion of enrolled infants who are identified with a genetic disease by BeginNGS.
Proportion of enrolled infants who are identified with a genetic disease by WES.
+5 moreTrial Design
1Treatment groups
Experimental Treatment
Group I: EnrolleesExperimental Treatment3 Interventions
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).
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Who is running the clinical trial?
Rady Pediatric Genomics & Systems Medicine InstituteLead Sponsor
8 Previous Clinical Trials
213,733 Total Patients Enrolled
Charlotte Hobbs, MD PhDPrincipal InvestigatorRady Children's Institute for Genomic Medicine
Stephen Kingsmore, MD DScPrincipal InvestigatorRady Children's Institute for Genomic Medicine
1 Previous Clinical Trials
10,000 Total Patients Enrolled
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