Perinatal Precision Medicine (NCT03211039) | Clinical Trial Compass
UnknownNot Applicable
Perinatal Precision Medicine
United States213 participantsStarted 2017-06-29
Plain-language 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.
Who can participate
Age range4 Months
SexALL
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Inclusion criteria
ā. Acutely ill inpatient of less than 4 months of age and within 96 hours of admission.
ā. Acutely ill inpatient of less than 4 months of age and within 96 hours of development of an abnormal response to standard therapy for an underlying condition.
ā. Acutely ill inpatient of less than 4 months of age and within 96 hours of development of clinical feature or laboratory test value suggestive of a genetic condition.
ā. Biological relative of an infant enrolled in this study.
Exclusion criteria
ā. Neonatal infection or sepsis with normal response to therapy
ā. Isolated prematurity
ā. Isolated unconjugated hyperbilirubinemia
ā. Hypoxic Ischemic Encephalopathy with clear precipitating event
ā. Previously confirmed genetic diagnosis that explains their clinical condition (i.e. have a positive genetic test)
What they're measuring
1
Subject's Main Provider's Perceived Clinical Utility of Genomic Sequencing
Timeframe: Within one week of the return of results
2
Test Results Led to Change in Patient Management
Timeframe: Within 1 week of return of results
3
Test Led to Changes in Management That Altered Patient Outcome
Timeframe: 1 year
Trial details
NCT IDNCT03211039
SponsorRady Pediatric Genomics & Systems Medicine Institute