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Genomic Sequencing

Whole Genome Sequencing for Genetic Disorder (NSIGHT2 Trial)

N/A

Waitlist Available

Led By Stephen Kingsmore, MD, DSc

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

Be younger than 18 years old

Timeline

Screening 3 weeks

Treatment Varies

Follow Up within one week of the return of results and approximately one year after enrollment

Awards & highlights

NSIGHT2 Trial Summary

This trial will study if genomic sequencing helps babies with acute illnesses, by measuring objective outcomes & family perceptions. It will compare 1,000 babies getting WGS or WES, & analyze families of those not receiving a diagnosis.

Who is the study for?

This trial is for acutely ill infants under 4 months old, admitted to a hospital within the last 96 hours, showing signs of a genetic condition. Biological relatives of enrolled infants can also join. It's not for those with confirmed genetic diagnoses, premature babies without other conditions, or neonates with certain specific exclusions.Check my eligibility

What is being tested?

The study tests whether rapid Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES) can improve outcomes in sick infants by comparing these two methods. Infants are randomly assigned to either WGS or WES and their health outcomes and family perspectives are evaluated.See study design

What are the potential side effects?

Since this trial involves genomic sequencing rather than drug interventions, there aren't direct side effects like you'd expect from medication. However, there may be emotional or social impacts due to learning about potential genetic issues.

NSIGHT2 Trial Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 1 year

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~1 year

This trial's timeline: 3 weeks for screening, Varies for treatment, and 1 year for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Subject's Main Provider's Perceived Clinical Utility of Genomic Sequencing

Test Led to Changes in Management That Altered Patient Outcome

Test Results Led to Change in Patient Management

Secondary outcome measures

Diagnostic Proportion for Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES)

Parental Decisional Regret With Sequencing

Parental Perceived Usefulness of Test

+2 more

NSIGHT2 Trial Design

2Treatment groups

Experimental Treatment

Group I: Whole Genome SequencingExperimental Treatment1 Intervention

Genetic test that looks at all coding and non-coding areas of the genome

Group II: Whole Exome SequencingExperimental Treatment1 Intervention

Genetic test that looks at all coding areas of the genome

Do I qualify?Apply below to find out

Find a Location

Who is running the clinical trial?

Rady Pediatric Genomics & Systems Medicine InstituteLead Sponsor

8 Previous Clinical Trials

213,640 Total Patients Enrolled

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)NIH

1,963 Previous Clinical Trials

2,674,528 Total Patients Enrolled

National Human Genome Research Institute (NHGRI)NIH

263 Previous Clinical Trials

283,919 Total Patients Enrolled

Frequently Asked Questions

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

What is the purpose of this experiment?

"This clinical trial's primary objective, assessed over a one year period, is to observe if Test Results Led to Change in Patient Management. Secondary outcomes include the Diagnostic Proportion for Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES), Parental Decisional Regret With Sequencing as measured on Brehaut's Decisional Regret scale ranging from 0-100, and an assessment of whether Parents perceive any benefit from testing their infant."

Answered by AI

Does this clinical experiment continue to accept new participants?

"This medical trial, first posted on June 29th 2017 and last updated January 28th 2023 is no longer actively seeking patients. However, 42 other investigations are presently enrolling participants."

Answered by AI

Recent research and studies

clinicaltrials.govStudy

Perinatal Precision Medicine

Stephen F. Kingsmore 2017. "Perinatal Precision Medicine". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT03211039.