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Perinatal Precision Medicine

NCT03211039 · Status: ACTIVE_NOT_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 213

Last updated 2024-03-01

Study results available
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Summary

This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, randomized, blinded study to either rapid Whole Genome Sequencing (WGS) or rapid Whole Exome Sequencing (WES, which is 2% of the genome and \~4-fold less expensive). 213 infants were actually enrolled. Outcomes will be measured both by objective clinical measures and family perceptions (patient/family centered outcomes). Primary analysis of WGS or WES will be in infants alone. Secondary analysis, in infants who do not receive a diagnosis, will be of families - ideally trios (mother, father, and affected infant), which is \~2-fold more expensive. Trios will be analyzed within the same randomization arm (WGS or WES). This study is designed to quantify which acutely ill infants benefit from rapid genomic sequencing, by how much they benefit, how they benefit, which rapid genomic sequencing method is superior, and the cost effectiveness of such testing.

Conditions

Interventions

GENETIC

Genomic sequencing and molecular diagnostic results, if any.

Patients and their families will be randomized to either receive whole genome sequencing or whole exome sequencing.

Sponsors & Collaborators

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

    collaborator NIH

  • National Human Genome Research Institute (NHGRI)

    collaborator NIH

  • Rady Pediatric Genomics & Systems Medicine Institute

    lead OTHER

Principal Investigators

  • Stephen F Kingsmore, MD, DSc · Rady Pediatric Genomics & Systems Medicine Institute

Study Design

Allocation
RANDOMIZED
Purpose
DIAGNOSTIC
Masking
SINGLE
Model
PARALLEL

Eligibility

Max Age
4 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-06-29
Primary Completion
2018-10-09
Completion
2024-07-30
FDA Device
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03211039 on ClinicalTrials.gov