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NCT Number: NCT07005700

Rapid Diagnostics for Genetic Disorders in Neonates

The goal of this study is to test a prototype genomic blood analysis for identifying rare diseases in infants hospitalized in the neonatal intensive care unit (NICU).

The main question it aims to answer is: Does the prototype accurately identify genetic variation(s) associated with an infant's health condition?

Researchers will compare the prototype's gene identification to traditional genome sequencing methods of gene identification.

Participants will be asked to provide a very small (one-tenth of a teaspoon) sample of blood, one-time.

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Key information

Conditions

Acid Base Disorder

Age range

1 day–6 month

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Sharp Mary Birch Hospital for Women and Newborns

San Diego, California, 92123, United States

Location contact

Jason B Sauberan, PharmD

CONTACT

[email protected]

858-939-7424

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

neonates of any gestational age.

  • Abnormality in routine neonatal screening test.
  • Unexplained neonatal hypotonia or neonate-onset seizures.
  • Unexplained and abnormal biochemical laboratory findings.
  • Skeletal dysplasia or joint problems.

Exclusion criteria

  • Parental refusal of consent to participate.
  • Provider refusal.
  • Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.

Treatment and study plan

Targeted genomic sequencing

Diagnostic Test

Single 0.5 mL venous or capillary blood sample.

Primary outcomes

  1. Identification of genes associated with congenital diseases

    Time frame: birth through hospital discharge or up to 1 month of age

    A finding that a participant has one of the genes among the 254 included in the targeted gene panel being used. These genes are associated with metabolic, lysosomal storage, immunodeficiency, hemoglobinopathy, and channelopathy diseases, sensorineural hearing loss, and other conditions typically exposed through newborn screening.

Study contacts

Contact information is provided by the study sponsor or research team.

Anup Katheria, MD

CONTACT

[email protected]

858-939-4170

Sponsors and collaborators

Lead sponsor

Sharp HealthCare

Other

Collaborators

  • MedySapiens

Registry information

Official study title

Development of Rapid Diagnostics for Genetic Disorders in Neonates Using a Novel Targeted Genomic DNA Sequencing Analysis Panel.

Important dates

Study start
2025
Primary completion
2026
Study completion
2027
First posted
Jun 5, 2025
Registry last updated
Jun 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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