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
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
Treatments tested in this trial
- Targeted genomic sequencing
Treatment groups
100 Participants
are divided into 1 treatment groupSponsors and collaborators
Sharp HealthCare
Lead sponsor
MedySapiens
Collaborator
Source ClinicalTrials.gov