Clinical trials: Whole Genome Sequencing
Pancreatic Cancer
Endoscopic Ultrasound Guided Fine Needle Biopsy (EUS-FNB-SC) Using a Novel Fork Needle
This is a clinical trial to compare two needles used in biopsy techniques to acquire tissue from pancreatic cancer. The hypothesis is that the tissue yield, as measured by tumor DNA and cellular material is superior for Flexible…
- Trial name
- NCT02678442
- Testing
- Fine Needle Biopsy (FNB), Fine Needle Aspiration (FNA)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Mayo Clinic
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
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
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
Waldenstrom's Macroglobulinemia
Study of Ibrutinib in Patients With Symptomatic, Previously Untreated Waldenstrom's Macroglobulinemia, and Impact on Tumor Genomic Evolution Using Whole Genome Sequencing
This research study is studying a drug called ibrutinib as a possible treatment for untreated Waldenstrom's Macroglobulinemia (WM).
- Trial name
- NCT02604511
- Testing
- Ibrutinib
- Where
- 2 sites in United States
- Volunteers
- 31 people
- Sponsor
- Dana-Farber Cancer Institute
Genetic Disorders
Clinical Implementation of Carrier Status Using Next Generation Sequencing
This study is conducting a randomized controlled trial (RCT) with up to 400 subjects (women \& partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS). 1.
- Trial name
- NextGen (NCT01902901)
- Testing
- Whole Genome Sequencing, Carrier status testing
- Where
- United States
- Volunteers
- 384 people, healthy volunteers welcome
- Sponsor
- Kaiser Permanente
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
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
Healthy Adults, Genetic Predisposition to Disease
Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into clinical medical care in the military…
- Trial name
- MilSeq (NCT03276637)
- Testing
- Whole exome sequencing
- Where
- 3 sites in United States
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Tuberculosis, Pulmonary
Study to Evaluate H56:IC31 in Preventing Rate of TB Recurrence
This is a phase 2, double-blind, randomized (1:1), placebo-controlled trial with two parallel groups. H56:IC31 (investigational vaccine) Placebo 900 HIV-negative adults with a diagnosis of drug susceptible pulmonary TB are…
- Trial name
- NCT03512249
- Testing
- H56:IC31
- Where
- 6 sites in South Africa, Tanzania
- Volunteers
- 831 people
- Sponsor
- International AIDS Vaccine Initiative
Healthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare
The MedSeq™ Project seeks to explore the impact of incorporating information from a patient's whole genome sequence into the practice of clinical medicine.
- Trial name
- NCT01736566
- Testing
- Family History + Whole Genome Sequencing, Family History Only
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital