Targeted Genomic Sequencing for Genetic Disorders in Newborns

Overseen By Anup Katheria, MD

Age: < 18

Sex: Any

Trial Phase: Academic

Sponsor: Sharp HealthCare

Disqualifiers: Parental refusal, Provider refusal, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 1

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new blood test designed to detect rare genetic diseases in newborns in the neonatal intensive care unit (NICU). The main goal is to determine if this test, called targeted genomic sequencing, can accurately identify genetic changes related to a baby's health issues compared to standard methods. The study requires taking a tiny blood sample from the infant, just once. Babies who might qualify for this trial include those with unusual results on standard newborn tests, unexplained low muscle tone, seizures, abnormal lab results, or joint and bone problems. As an unphased study, this trial offers a unique opportunity to contribute to groundbreaking research that could improve early diagnosis and treatment for newborns.

Do I need to stop my current medications to join the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial team or your doctor.

What prior data suggests that this genomic sequencing method is safe for newborns?

Research has shown that targeted genomic sequencing is generally safe and well-tolerated for newborn screening. Studies have found that this method can successfully identify genetic disorders in babies, leading to better health outcomes. No specific reports of negative effects from the sequencing itself exist. The process involves taking a very small blood sample, about one-tenth of a teaspoon, making it a low-risk procedure. Since targeted genomic sequencing is already used in various ways for newborn screening, it indicates a level of safety for this application. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Targeted genomic sequencing is unique because it offers a precise way to identify genetic disorders in newborns, something current methods like standard newborn screening or karyotyping cannot do with the same level of detail. Researchers are excited about this technique because it can quickly pinpoint the exact genetic mutations causing a disorder, potentially allowing for faster and more accurate diagnosis. This speed and accuracy could lead to earlier interventions and better outcomes for affected infants, setting it apart from traditional, broader approaches that might take longer to yield results.

What evidence suggests that this genomic sequencing method is effective for identifying genetic disorders in newborns?

Research has shown that targeted genomic sequencing, which participants in this trial will undergo, effectively identifies genetic disorders in newborns. In one study, 13% of newborns received at least one possible diagnosis based on the genetic information found. This method is nearly twice as effective as traditional methods, offering faster results at a lower cost. Additionally, targeted genomic sequencing can significantly benefit health by enabling doctors to start preventive measures or treatments based on the findings. The technology's ability to quickly provide useful information makes it a promising tool for diagnosing rare genetic conditions in infants. ^{6 7 8 9 10}

Are You a Good Fit for This Trial?

This trial is for infants in the NICU with suspected genetic disorders. They must be able to provide a small blood sample. Specific inclusion and exclusion criteria are not listed, but typically involve health status and parental consent.

Inclusion Criteria

Unexplained and abnormal biochemical laboratory findings

Abnormality in routine neonatal screening test

My baby is a newborn.

Exclusion Criteria

Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.

My parents or guardians have not agreed to let me join.

My doctor has advised against me joining this trial.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

1-2 weeks

Sample Collection

Participants provide a very small (one-tenth of a teaspoon) sample of blood, one-time

1 day

1 visit (in-person)

Analysis

Prototype genomic blood analysis is conducted to identify genetic variations

Up to 1 month

Follow-up

Participants are monitored for safety and effectiveness after analysis

Up to 1 month

What Are the Treatments Tested in This Trial?

Interventions

• Targeted genomic sequencing

Trial Overview Researchers are testing a new genomic blood test designed to quickly identify rare diseases in newborns. It will be compared against traditional genome sequencing methods to check its accuracy.

How Is the Trial Designed?

Group I: Consented, Enrolled Experimental Treatment 1 Intervention

All participants who meet inclusion and exclusion criteria and whose parent has provided written informed consent.

Who Is Running the Clinical Trial?

Sharp HealthCare

Lead Sponsor

Trials

42

Recruited

17,600+

MedySapiens

Collaborator

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC12534850/

A Genomic Sequencing Approach to Newborn Mass ... In this cohort study of 4054 newborns, 13.0% received at least 1 possible diagnosis based on pathogenic or likely pathogenic variants detected ...

2. jamanetwork.com jamanetwork.com/journals/jamanetworkopen/fullarticle/2840293

A Genomic Sequencing Approach to Newborn Mass ... This cohort study examines the feasibility, potential utility, and clinical implications of next-generation sequencing–based newborn ...

3. radygenomics.org radygenomics.org/2023/genome-sequencing-effective-diagnosing-genetic-disorders-newborns-infants-gemini-study/

Genome Sequencing Nearly Twice as Effective as a ... Targeted genome sequencing was found to deliver routine results more quickly and at a lower cost; lack of standardization in analytic ...

4. sciencedirect.com sciencedirect.com/science/article/pii/S1098360025000905

Data-driven consideration of genetic disorders for global ... Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening.

5. nature.com nature.com/articles/s41591-025-03986-z

Feasibility, acceptability and clinical outcomes of the ... Average time to genomic newborn result was 13 days. Clinical impact ranged from instituting preventative measures or surveillance to active ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC9326745/

Newborn Screening by Genomic Sequencing As occurred with MSMS, next generation sequencing (NGS) offers the promise of screening for more disorders at lower overall cost per disease.

7. radygenomics.org radygenomics.org/begin-ngs-newborn-sequencing/publications/

BeginNGS Publications | RCIGM Genome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs).

8. nature.com nature.com/articles/s41591-024-03465-x

Population-based, first-tier genomic newborn screening in ... A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes.

9. jamanetwork.com jamanetwork.com/journals/jamanetworkopen/fullarticle/2809070

Genome Sequencing for Newborn Screening The introduction of genome sequencing into newborn screening has the potential to dramatically improve health outcomes for newborns with genetic ...

10. link.springer.com link.springer.com/article/10.1007/s00481-025-00870-9

The case against genomic sequencing of healthy newborns Sequencing targeted at infants with suspected genetic conditions can help make an early diagnosis which can impact treatment, and it is ...