Rapid Diagnostics for Genetic Disorders in Neonates

Launched by SHARP HEALTHCARE · May 27, 2025

Keywords

ClinConnect Summary

This clinical trial, called "Rapid Diagnostics for Genetic Disorders in Neonates," is focused on finding out if a new blood test can quickly identify genetic problems in newborns who are in the neonatal intensive care unit (NICU). The main goal is to see if this new test works as well as the traditional methods currently used to analyze genes, especially for babies with certain health issues, like abnormal screening results or unexplained conditions such as low muscle tone or seizures.

To participate in the trial, infants of any gestational age who have specific health concerns may be eligible. This includes babies with unusual results from routine tests or unexplained medical issues. Parents will only need to provide a tiny blood sample—about one-tenth of a teaspoon—just once. It’s important to know that the trial is not yet recruiting participants, and any decision about joining will depend on the consent of the parents and the judgment of the healthcare provider involved. This study could lead to faster and more accurate diagnoses for newborns with rare genetic disorders, which can be crucial for their care and treatment.

Gender

ALL

Eligibility 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.