← Back to Search

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 below

Select...

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

This trial's timeline: 3 weeks for screening, Varies for treatment, and 18 months for reporting.

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 more

Trial 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).

0 / 1Eligibility criteria met

Find a Location

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

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Are there any ongoing efforts to enlist participants for this trial?

"Indeed, the information on clinicaltrials.gov confirms that this trial is actively enrolling participants. The trial was first listed on March 13, 2023 and most recently revised on February 16, 2024. They are seeking to recruit a total of 200 patients at a single site."

Answered by AI

What is the overall count of individuals involved in this research endeavor?

"Indeed, the information on clinicaltrials.gov reflects that this particular medical investigation is presently seeking eligible participants. The trial was first made available on March 13th, 2023, with the most recent update recorded on February 16th, 2024. A total of 200 individuals are sought after for inclusion from a single designated site."

Answered by AI

What are the eligibility criteria for individuals interested in participating in this research project?

"Individuals eligible for inclusion in this research must exhibit a genetic anomaly and be between 24 hours and 240 hours old. The study aims to recruit a cohort of 200 participants."

Answered by AI