Rapid Diagnostics for Genetic Disorders in Neonates

May 27, 2025 updated by: Anup Katheria, M.D., Sharp HealthCare

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

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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

100

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • San Diego, California, United States, 92123
        • Sharp Mary Birch Hospital for Women and Newborns
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Health Services Research
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Consented, Enrolled
All participants who meet inclusion and exclusion criteria and whose parent has provided written informed consent.
Diagnostic test: Targeted genomic sequencing
Single 0.5 mL venous or capillary blood sample.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
birth through hospital discharge or up to 1 month of age

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sharp HealthCare

Collaborators

MedySapiens

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

June 30, 2025

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

May 1, 2027

Study Registration Dates

First Submitted

April 9, 2025

First Submitted That Met QC Criteria

May 27, 2025

First Posted (Estimated)

June 5, 2025

Study Record Updates

Last Update Posted (Estimated)

June 5, 2025

Last Update Submitted That Met QC Criteria

May 27, 2025

Last Verified

May 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MedySeq

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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