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ENROLLING BY INVITATION

NCT04848090

Genome Sequencing in the Intensive Care Unit Population

Sponsor: Jerry Vockley, MD, PhD

View on ClinicalTrials.gov

Summary

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 Details

Gender

All

Age Range

Any - 1 Year

Study Type

INTERVENTIONAL

Enrollment

400

Start Date

2020-07-13

Completion Date

2027-06

Last Updated

2026-01-09

Healthy Volunteers

Conditions

Infant, Newborn, Disease Genetic Disease

Interventions

DIAGNOSTIC_TEST

Neonate WGS Testing

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.

Inclusion Criteria: * Neonates: In order to be approached to participate, a neonate must meet all of the following criteria: 1. Greater than 24 weeks gestational age 2. Birth weight greater than 600 grams 3. Admitted to the intensive care unit at UPMC Children's Hospital (CHP) and/or Magee Women's Hospital 4. Possibility of a genetic disorder based on signs, symptoms, and laboratory values triggering a formal clinical medical genetics consult by the clinical care team. 5. Triaged by PI or attending co-investigators and prioritized to introduction of this research study based on patient-specific clinical concerns 6. Documented informed consent from parent/guardian * Parents: Parent of a neonate who meets the above inclusion criteria and who has been consented to participate in the study. * Siblings: Siblings of a neonate who meets the above inclusion criteria and who has been consented to participate in the study. Siblings will only be recruited if their participation has been determined to be essential to the accurate interpretation of the neonate's genetic studies. * Historical Controls: Individuals who have been evaluated by Medical Genetics within the last 24 months and who meet the criteria for matched controls as defined by propensity score matching. Exclusion Criteria: * Neonates: An individual who meets any of the following criteria will be excluded from participating in this study: 1. Has a known etiologic diagnosis (e.g. prenatal testing) 2. Has a major congenital anomaly (renal, cardiac, hepatic, neurological, or pulmonary malformations) associated with a chromosomal anomaly detected on prenatal testing (e.g. ultrasound, genetic testing) 3. Sequencing sent after birth for any other reason than the genetics consult that triggers the study 4. Presence of documented significant congenital infection (e.g. congenital cytomegalovirus) * Parents: 1. Is not the biological parent of the identified neonate 2. There is no exclusion for parent participation. If the parent is less than 18 years of age, however, these individuals will be asked to assent to the study and their parent(s) will be asked to provide permission/consent for the minor parent's participation 3. Having had previous genetic testing does not exclude the parent from participating in this study. * Siblings: 1. Is not a biological sibling of a neonate who meets the inclusion criteria 2. Is not require for accurate interpretation of neonate results 3. Having had previous genetic testing does not exclude the sibling from participating in this study. * Historical Control: Has not been seen within the past 24 months and/or does not meet the criteria for matched control as defined by propensity score matching. Part of this matching requires that the historical control be matched to a study participant based on age, thus they will be selected based on all matching criteria and will be excluded if they do not meet the criteria, including age.

Locations (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States