Clinical trials: Sequence Analysis
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Genotyping Techniques
Method Comparison Study of the Spartan FRX CYP2C19 Genotyping System Against Bi-directional Sequencing
The Spartan FRX CYP2C19 Test System (hereafter referred to as the 'FRX System') is a qualitative in vitro diagnostic test for the identification of a patient's CYP2C19 *2, *3 and *17 genotypes from genomic DNA obtained from…
- Trial name
- NCT01718535
- Testing
- Spartan FRX CYP2C19 Test System
- Where
- Canada
- Volunteers
- 327 people, healthy volunteers welcome
- Sponsor
- Spartan Bioscience Inc.
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Human Leukocyte Antigens (HLA)
Clinical Protocol SeCore, uTYPE and 3500 Dx System
The purpose of this study is to compare the Invitrogen SeCore(R) sequencing system and uTYPE(R) interpretation software to the predicate device Invitrogen SSP UniTray(R) with UniMatch(R) interpretation software and show 95%…
- Trial name
- NCT01285427
- Volunteers
- 300 people
- Sponsor
- Life Technologies Corporation
Anxiety Disorder of Adolescence
Sequencing CBT for Child Anxiety: CBT Plus Sertraline Versus Switch to Sertraline
The purpose of this study is to determine whether cognitive behavioral therapy (CBT) in combination with sertraline (SRT) is more effective than SRT alone in treating children and adolescents with anxiety disorders (after an…
- Trial name
- NCT01977729
- Testing
- Sertraline, Cognitive Behavioral Therapy
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Yale University
Musculoskeletal Infection, Acute Hematogenous Osteomyelitis
Next-Generation Sequencing for Pathogen Detection and Quantification in Children With Musculoskeletal Infections
The purpose of this study is to evaluate the use of a blood test: Karius® plasma-based next-generation sequencing test (Karius Test), to see if we can detect and measure the infection causing agent in children with…
- Conditions
- Musculoskeletal Infection, Acute Hematogenous Osteomyelitis, Septic Arthritis, Osteomyelitis
- Trial name
- KDG-002 (NCT03846804)
- Testing
- Karius Test
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Indiana University
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
Hereditary Disease, Genetic Predisposition to Disease
Genomic Sequencing for Childhood Risk and Newborn Illness
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.
- Trial name
- NCT02422511
- Testing
- Genomic sequencing, Family history report
- Where
- 2 sites in United States
- Volunteers
- 1,205 people
- Sponsor
- Brigham and Women's Hospital
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
Encephalitis, Meningitis
Precision Diagnosis of Acute Infectious Diseases; Neuroinflammatory Cohort
This study aims to use a clinically validated metagenomic next-generation sequencing (mNGS) assay to provide a demonstration of precision medicine for diagnosis of acute infectious disease in hospitalized patients.
- Trial name
- PDAID (NCT02910037)
- Testing
- mNGS for pathogen detection
- Where
- 7 sites in United States
- Volunteers
- 214 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
Malignant Pericardial Effusion, Malignant Pleural Effusion
Genetic Sequencing-Informed Targeted Therapy in Treating Patients With Stage IIIB-IV Non-small Cell Lung Cancer
This randomized clinical trial studies how well genetic sequencing-informed targeted therapy works in treating patients with stage IIIB-IV non-small cell lung cancer.
- Conditions
- Malignant Pericardial Effusion, Malignant Pleural Effusion, Recurrent Non-small Cell Lung Cancer, Stage IIIB Non-small Cell Lung Cancer
- Trial name
- NCT02132884
- Testing
- cytology specimen collection procedure, therapeutic procedure, targeted therapy
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Fox Chase Cancer Center
Malignant Solid Neoplasm
Testing Copanlisib as Potentially Targeting Treatment in Cancers With PTEN Loss (MATCH - Subprotocol Z1G)
The phase II MATCH treatment trial tests how well copanlisib works to treat patients with cancer with PTEN loss. Copanlisib may stop the growth of tumor cells and may kill them by blocking some of the enzymes needed for cell…
- Trial name
- NCT06360588
- Testing
- Biopsy Procedure, Biospecimen Collection, Copanlisib
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- National Cancer Institute (NCI)
Respiratory Distress Syndrome, Newborn
ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory distress syndrome (RDS) is the most common respiratory cause of mortality and morbidity in very preterm infants, but it also could be seen in late preterm and term infants.
- Trial name
- NCT04137783
- Testing
- no intervention
- Where
- China
- Volunteers
- 39 people
- Sponsor
- Children's Hospital of Chongqing Medical University
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
Post Menopausal Women With Early Breast Cancer
Sequencing Of Endocrine Therapy In Post-Menopausal Women With Early Breast Cancer (FAST)
Quality of life under therapy with Aromasin® (exemestane) according to IBCSG (International Breast Cancer Study Group) questionnaire. Change of the endometrium after switching from tamoxifen to Aromasin® (exemestane).
- Trial name
- FAST (NCT01050634)
- Testing
- Aromasin (exemestane)
- Volunteers
- 980 people
- Sponsor
- Pfizer
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