Rapid Diagnostics for Genetic Disorders in Neonates

ConditionAcid Base Disorder

Trial statusNot yet recruiting

Trial phaseNot applicable

Trial typeInterventional

Biological sexAll

Age1-6

SponsorSharp HealthCare

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Abnormality in routine neonatal screening test.

Unexplained neonatal hypotonia or neonate-onset seizures.

Unexplained and abnormal biochemical laboratory findings.

Skeletal dysplasia or joint problems.

Disqualifiers

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

Design model

Single group

Treatments tested in this trial

Targeted genomic sequencing
Diagnostic test
Single 0.5 mL venous or capillary blood sample.

Treatment groups

100 Participants

are divided into 1 treatment group

Group A: Consented, EnrolledExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

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.

Time frame

birth through hospital discharge or up to 1 month of age

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Sharp HealthCare

Lead sponsor

MedySapiens

Collaborator

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: