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Clinical Trial Details — Status: Active, not recruiting

Administrative data

NCT number NCT06276348
Other study ID # 20226892
Secondary ID
Status Active, not recruiting
Phase N/A
First received
Last updated
Start date March 13, 2023
Est. completion date September 2024

Study information

Verified date February 2024
Source Rady Pediatric Genomics & Systems Medicine Institute
Contact n/a
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial Summary

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled. The main questions this study aims to answer are: - What is the diagnostic yield of diagnostic whole genome sequencing (DWGS) in this population? - What is the diagnostic sensitivity and specificity of BeginNGS and whole exome sequencing (WES) as compared to DWGS? - What are the potential issues related to implementing DWGS in this population? Enrolled newborns will have a blood sample taken and will receive three tests: - DWGS - BeginNGS - WES


Description:

Newborn screening (NBS) by testing dried blood spots (DBS) identifies newborns with a few diseases for which effective treatments are available to enable treatment at or before symptom onset. Because NBS improves outcomes in these diseases, it is performed on almost all US babies. The current Federal recommended NBS list is limited to 35 conditions and identifies ~6,600 affected children per year. In genetic diseases not screened by NBS, however, outcomes remain poor because of delays in diagnosis and treatment. The investigators recently developed a system for NBS for 434 severe, childhood genetic diseases for which effective treatments are available using whole genome sequencing (WGS), called BeginNGS. Retrospective studies showed BeginNGS to have a true negative rate (specificity) of 99.7% and true positive rate (sensitivity) of 88.8%. The investigators now propose to undertake a first prospective study in newborns admitted to the Neonatal Intensive Care Unit (NICU) at Rady Children's Hospital, San Diego (RCHSD) to compare the sensitivity and specificity of BeginNGS with that of standard, diagnostic rapid whole genome sequencing (DWGS) and whole exome sequencing (WES). This study is in preparation for larger, future clinical trials.


Recruitment information / eligibility

Status Active, not recruiting
Enrollment 120
Est. completion date September 2024
Est. primary completion date February 28, 2024
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 1 Day to 10 Days
Eligibility Inclusion Criteria: - Neonates less than or equal to 10 days old who are admitted to the RCHSD NICU. Exclusion Criteria: 1. Neonates who have enrolled in another clinical study at Rady Children's Institute for Genomic Medicine or in whom DWGS has been ordered or is being considered. 2. Neonates whose mother is less than 18 years of age. 3. Neonates who are wards of the state. 4. Neonates whose parent/legal guardian is unable to provide consent.

Study Design


Related Conditions & MeSH terms


Intervention

Genetic:
Whole genome sequencing
Standard diagnostic whole genome sequencing will be performed.
BeginNGS test
Genomic sequencing that screens for 434 genetic diseases.
WES
Whole exome sequencing will be performed.

Locations

Country Name City State
United States Rady Children's Hospital San Diego San Diego California

Sponsors (1)

Lead Sponsor Collaborator
Rady Pediatric Genomics & Systems Medicine Institute

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Proportion of enrolled infants who are diagnosed with a genetic disease by DWGS. Proportion 18 months
Secondary Proportion of enrolled infants who are identified with a genetic disease by BeginNGS. Proportion 18 months
Secondary Proportion of enrolled infants who are identified with a genetic disease by WES. Proportion 18 months
Secondary Proportion of enrolled infants who have a positive standard NBS test. Proportion 18 months
Secondary Proportion of parents approached who agree to participate in the study. Proportion 18 months
Secondary Parental reasons for refusal. Questionnaire 18 months
Secondary Time from sample arriving in lab to return of DWGS results. Time (days) 18 months
Secondary Time from birth to return of DWGS results. Time (days) 18 months
Secondary Results of confirmatory testing if BeginNGS or WES identifies a diagnostic finding not reported by DWGS. Proportion of findings confirmed 18 months
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