Rapid Diagnostics for Genetic Disorders in Neonates

NCT07005700 | Not Yet Recruiting

• 1 other identifier: MedySeq
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Acid Base Disorder

Outcome Measures

Primary Outcomes (1)

• Identification of genes associated with congenital diseases

  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

Study Arms (1)

Consented, Enrolled

EXPERIMENTAL

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

Diagnostic Test: Targeted genomic sequencing

Interventions

Targeted genomic sequencing DIAGNOSTIC_TEST

Single 0.5 mL venous or capillary blood sample.

Consented, Enrolled

Eligibility Criteria

• Age: 1 Day - 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Sharp HealthCare: lead
• MedySapiens: collaborator

Study Sites (1)

Sharp Mary Birch Hospital for Women and Newborns

San Diego, California, 92123, United States

Location

Related Publications (1)

• Kim MJ, Kim SY, Lee JS, Kang S, Park LJ, Choi W, Jung JY, Kim T, Park SS, Ko JM, Seong MW, Chae JH. Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Ann Lab Med. 2023 May 1;43(3):280-289. doi: 10.3343/alm.2023.43.3.280. Epub 2022 Dec 22.

  PMID: 36544340 BACKGROUND

Related Links

• Gene sequencing panel and bioinformatics software being used in the study.

Central Study Contacts

Anup Katheria, MD

CONTACT

858-939-4170; Anup.Katheria@sharp.com

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, Neonatal Research Institute, Sharp Mary Birch Hospital for Women and Newborns

Study Record Dates

• First Submitted: April 9, 2025
• First Posted: June 5, 2025
• Study Start: June 30, 2025
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): May 1, 2027
• Last Updated: June 5, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)