Clinical trials: Whole Genome Sequencing
Whole Genome Sequencing
South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South
2,000 infants with signs suggestive of a genetic disorder being treated at a neonatal intensive care unit (NICU) in which African-American and rural populations are highly represented will be enrolled.
- Trial name
- NCT03842995
- Testing
- Genetic Counselor, Trained Healthcare Provider
- Where
- 3 sites in United States
- Volunteers
- 477 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Intellectual Disability, Autism
Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Current lab reports are designed to communicate results from the laboratory to the provider; they are not designed to be accessible to patients.
- Conditions
- Intellectual Disability, Autism, Multiple Congenital Anomalies
- Trial name
- NCT02504502
- Testing
- enhanced genomic report
- Volunteers
- 52 people
- Sponsor
- Geisinger Clinic
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Genetic Diseases, Genetic Syndrome
Perinatal Precision Medicine
This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, randomized, blinded study to either rapid…
- Conditions
- Genetic Diseases, Genetic Syndrome, Mendelian Disorders
- Trial name
- NSIGHT2 (NCT03211039)
- Testing
- Genomic sequencing and molecular diagnostic results, if any.
- Where
- United States
- Volunteers
- 213 people
- Sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
Encephalopathy, Birth Defect
Clinical Utility of Pediatric Whole Exome Sequencing
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
- Conditions
- Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly
- Trial name
- NCT03525431
- Testing
- Whole Exome Sequencing
- Where
- 4 sites in United States
- Volunteers
- 529 people
- Sponsor
- University of California, San Francisco
Cluster Detection
CLUSTER Trial for Outbreak Detection and Response
Despite the critical importance of identifying hospital-associated outbreaks as early as possible in order to limit their spread, there are currently no standardized methods for cluster detection.
- Trial name
- CLUSTER (NCT04053075)
- Testing
- Routine cluster detection, Enhanced cluster detection
- Where
- 82 sites in United States
- Volunteers
- 2,905,455 people
- Sponsor
- Harvard Pilgrim Health Care