Genome Sequencing in the Intensive Care Unit Population

Part of paid clinical trials in Pittsburgh, Pennsylvania.

Sponsor
Jerry Vockley, MD, PhD
Study ID
NCT04848090
Status
Enrolling By Invitation

Conditions

  • Genetic Disease
  • Infant, Newborn, Disease

Eligibility Criteria

Sex
ALL
Age
N/A - 1 Year
Healthy Volunteers
Not accepted

Interventions

  • Neonate WGS Testing — DIAGNOSTIC_TEST
    Neonates will undergo whole genome sequencing, and analysis with a targeted panel of genes likely to cause genetic disorders in the first year of life. If no diagnosis is identified, sequenced data will be analyzed using a whole exome filter. Performed in a CLIA-certified lab. Pathogenic, likely pathogenic, and VUS in genes related to the phenotype will be returned to the care team and family. Parents will be enrolled for the purpose of trio analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic findings will be reported to the parents in the setting of genetic counseling. Sibling will be enrolled and have samples collected for use in the genetic analysis only if deemed essential. Results will be reported to the parents in the setting of genetic counseling.

Study Details

The purpose of this study is to understand how the use of whole genome sequencing (WGS) may be able to increase the speed with which a diagnosis is made for patients in an intensive care unit population. This is not an assessment of a new device, test, or technology. This project is an investigation of the utility of this technology in clinical care when compared to standard of care testing. The study will look at the ability to more quickly diagnose a patient (time to diagnosis and efficacy of testing) as compared to standard of care testing. The study will also look at the impact of WGS on patient outcomes and cost of clinical care.

Key Dates

Start date
Jul 13, 2020
Status verified
Jan 2026
Primary completion
Feb 28, 2027
Completion
Jun 30, 2027

Study Design

Enrollment
400 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC

Arms

  • Other: Neonate WGS Testing
    Neonate subjects who are eligible and whose parents consent to study will undergo blood sampling which will be sent for whole genome sequencing and bioinformatics analysis, filtering first a targeted panel of 1722 genes most likely to cause genetic disorders in the first year of life, and then with a whole exome filter if no obvious diagnosis is determined using the 1722 gene panel filter.

Primary Outcome Measure

Confirmed Diagnosis [ Time Frame: Up to 4 years ]

Locations (1)

FacilityCityStateZIPSite coordinators
UPMC Children's Hospital of PittsburghPittsburghPennsylvania15224-

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By research site
UPMC Children's Hospital of Pittsburgh· Pittsburgh, PA

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