Rapid Diagnostics for Genetic Disorders in Neonates

Sharp HealthCare

Status: Not yet enrolling

Conditions: Acid Base Disorder

Treatments: Diagnostic Test: Targeted genomic sequencing

Study type: Interventional

Funder types: Other

Identifiers

NCT07005700

MedySeq

Details and patient eligibility

About

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.

Enrollment: 100 estimated patients

Sex: All

Ages: 1 day to 6 months old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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.

Trial design

Primary purpose: Health Services Research

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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100 participants in 1 patient group

Consented, Enrolled

Experimental group

Description:

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

Treatment:

Diagnostic Test: Targeted genomic sequencing