Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
ConditionRare Diseases
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age1-90
SponsorBaylor College of Medicine
About this trial
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering feedback from healthcare providers. Researchers will provide rapid whole genome sequencing (WGS) to 200 infants over a period of 5 years. Data will be collected via Consultagene, surveys, and qualitative interviews.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Undiagnosed infants from 0-90 days of age, with a diverse group of phenotypes and strongly suspected to have genetic disorders.
Disqualifiers
(1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating an inborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence of other congenital anomalies; (7) isolated birth defects such as myelomeningocele, cleft lip/palate, cardiac septal defects, isolated congenital diaphragmatic hernia, etc.; (8) birth defects due to known teratogens i.e., alcohol, Isotretinoin, etc.; (9) multiple congenital anomalies associated with maternal diabetes; (10) VACTERL association; and (11) hemodynamically unstable newborns needing transport for higher level of care.
Trial design
Design model
Single group
Treatments tested in this trial
Rapid whole genome sequencing
GeneticAll consented patients will receive a virtual genetic evaluation and rapid whole genome sequencing
Treatment groups
410 Participants
are divided into 1 treatment groupGroup A: MAGNET study patientsExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Effectiveness of Consultagene
The primary outcome will be effectiveness of Consultagene, defined as difference in diagnostic yield compared to usual care.
Time frame
From enrollment to the end of treatment-4 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Baylor College of Medicine
Lead sponsor
National Human Genome Research Institute (NHGRI)
Collaborator
Source ClinicalTrials.gov