Acid Base Disorder
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTTargeted genomic sequencing
Single 0.5 mL venous or capillary blood sample.
Sponsors
MedySapiens
Sharp HealthCare
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
1 Days to 6 Months
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of genes associated with congenital diseases | birth through hospital discharge or up to 1 month of age | 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. |
Countries
United States
Contacts
Primary ContactAnup Katheria, MD
Outcome results
None listed