Rapid Diagnostics for Genetic Disorders in Neonates

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Clinical Phase

NA

Total Enrollment

100 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-06-30

Study Completion Date

2027-05-31

Brief Summary

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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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Detailed Description

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Conditions

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Acid Base Disorder

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

HEALTH_SERVICES_RESEARCH

Blinding Strategy

NONE

Study Groups

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Consented, Enrolled

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

Group Type EXPERIMENTAL

Targeted genomic sequencing

Intervention Type DIAGNOSTIC_TEST

Single 0.5 mL venous or capillary blood sample.

Interventions

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Targeted genomic sequencing

Single 0.5 mL venous or capillary blood sample.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* 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.

Minimum Eligible Age

1 Day

Maximum Eligible Age

6 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

No