N/A N=236 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophy · White Matter Disease · 4H Syndrome
Primary: Changes in Diagnosis Status (Resulting From WGS) — 45 Participants
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
N/A N=477 South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South
Whole Genome Sequencing
Primary: Evaluate Parental Empowerment Using the Genetic Counseling Outcome Scale (GCOS) — 117.94; 117.19 score on a scale
N/A N=970 Genomic Sequencing for Childhood Risk and Newborn Illness
Hereditary Disease · Genetic Predisposition to Disease
Primary: Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care — 0.1; 0.0; 3.1; 3.8 Days
N/A N=383 Clinical Implementation of Carrier Status Using Next Generation Sequencing
Genetic Disorders
Primary: Number of Patients That Receive Carrier Testing and Have Results to Return — 9; 155 Participants
N/A N=1,097 Prenatal Genetic Diagnosis by Genomic Sequencing
Fetal Structural Anomalies
Primary: Number of Participants Who Had Reportable Variants — 114; 22 Participants
N/A N=213 A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare
Healthy Adults (Full Study and Extension Phase) · Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
Primary: Change in Attitudes and Trust — 0.0; 0.7; 3.5; 1.8 units on a scale
N/A N=105 Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
Healthy Adults · Genetic Predisposition to Disease
Primary: Active-duty Airmen's Perceptions About Military Use of Genomic Information to Make Career Decisions — 2.62; 2.66 score on a scale
N/A N=400 Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
Pediatric: Genetic Syndrome
Primary: The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx — 109 Participants
N/A N=50 Feasibility Clinical Study of Targeted and Genome-Wide Sequencing
Solid Tumors
Primary: Time From Patient Recruitment to Final Results ≤ 21 Days in ≥ 90% of Patients — 21 calendar days
N/A N=548 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Epilepsy; Seizure · Neuromuscular Diseases · Brain Malformation
Primary: Initial Patient Pediatric Quality of Life (Peds QL) Score — 64.37; 65.83; 60.04; 63.39 score on a scale
N/A N=316 Clinical Utility of Prenatal Whole Exome Sequencing
Structural Anomalies · Cardiac Anomalies · Central Nervous System Anomalies
Primary: Diagnostic Yield of Prenatal Exome in Patients With Fetal Structural Anomalies — 60 Participants
N/A N=529 Clinical Utility of Pediatric Whole Exome Sequencing
Encephalopathy · Birth Defect · Intellectual Disability
Primary: Number of Pediatric Patients With a Positive Exome Sequencing Result — 142 Participants
N/A N=214 Precision Diagnosis of Acute Infectious Diseases; Neuroinflammatory Cohort
Encephalitis · Meningitis
Primary: Total Number of Cases With at Least One Provider Response — 98; 58 cases
N/A N=106 North Carolina Newborn Exome Sequencing for Universal Screening
Metabolism, Inborn Errors · Hearing Loss · Hereditary Disease
Primary: Parental Choices Following Decision Aid — 120; 57; 25; 2 Participants
N/A N=20 Molecular Profiling in Guiding Individualized Treatment Plan in Adults With Recurrent/Progressive Glioblastoma
Adult Glioblastoma
Primary: Number of Participants Who Received Treatment Recommendations Within 35 Days of Surgery — 15 Participants
N/A N=240 Antibiotic Selection Using Next Generation Sequencing vs Urine Culture
Kidney Stone · Renal Stone · Infection, Bacterial
Primary: Incidence of Infection Post Surgery — 0; 7 participants
Phase 4 N=28 Implementation of PPI Medication PGX Testing
Gastroesophageal Reflux
Primary: Count of Patients Agreeing to Volunteer for the Study — 28 Participants
Phase 2 N=134 Bacterial Genomic Sequencing in Overactive Bladder
Overactive Bladder
Primary: Bacterial Genomic Sequencing — 25; 11; 3; 6 participants
N/A N=38 Next-Generation Sequencing for Pathogen Detection and Quantification in Children With Musculoskeletal Infections
Musculoskeletal Infection · Acute Hematogenous Osteomyelitis · Septic Arthritis
Primary: Number of Participants With a Pathogen Identified by the Initial Karius Test (IP1) and Standard Culture Methods — 23; 26; 15 Participants
N/A N=300 Clinical Protocol SeCore, uTYPE and 3500 Dx System
Human Leukocyte Antigens (HLA)
Primary: All SeCore® Kits,Primary Analysis of Concordance Rate (Clopper-Pearson CI) — 99.6 percentage of concordant alleles
N/A N=2 Next Generation Sequencing-Based Stratification of Front Line Treatment of HighGrade Neuroendocrine Carcinoma
Large-Cell Neuroendocrine Carcinoma
Primary: Sequencing Rate (Feasibility)
N/A N=531 Implementing Pharmacogenetic Testing in Gastrointestinal Cancers
Gastrointestinal Cancer
Primary: Feasibility: Number and Percentage of Participants Who Had Their Pharmacogenetic Tests Returned Prior to Initial Dose — 130; 95 Participants
N/A N=6 VircapSeq Virus Detection in Sézary Syndrome
Lymphoma, T-Cell, Cutaneous · Sézary Syndrome
Primary: Number of Participants With Viral Sequences Present in Malignant T Cells of Patients With Sézary Syndrome — 6 Participants
Phase 2 N=193 Randomized Controlled Trial of Genomically Directed Therapy in Patients With Triple Negative Breast Cancer
Malignant Neoplasm of Breast · Breast Cancer
Primary: Percentage of Participants With Two-Year Disease-Free Survival (DFS) — 56.6; 62.4 percentage of participants
N/A N=148 Implementation of Genomics in Substance Use Disorder Treatment
Tobacco Use Disorder · Smoking Cessation · Tobacco Use Cessation
Primary: Change in Use of Smoking Cessation Pharmacotherapy in Past 30 Days — 11; 9; 9; 2 Participants
N/A N=225 Advanced Metagenomic Analysis of Human Colonic Microbiota in Patients With Chronic GI Disorders
Irritable Bowel Syndrome · Colitis, Ulcerative · Crohn Disease
Primary: Colonic-Mucosa Associated Microbial Species Per Compiled Participants in 5 Different Arms — 40; 30; 23; 23 microbial species population
N/A N=685 An Open Label Study of Clinical Utility and Patient Outcomes of the Genecept Assay
Treatment Resistant Depression · Generalized Anxiety Disorder
Primary: Change From Baseline in Clinical Global Impressions Improvement (CGI-I) Scale at 3 Months — 545; 386 Participants
Phase 3 N=2,415 Applying Pharmacogenetic Algorithms to Individualize Dosing of Warfarin
Thromboembolism
Primary: The Percent of Out of Range (OOR) International Normalized Prothrombin Time Ratio (INRs) in the Standard and Modified Pharmacogenetic Arms. — 30.6; 31.8 percent — p=<0.05
N/A N=52 Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Intellectual Disability · Autism · Multiple Congenital Anomalies
Primary: Satisfaction With Genomic Test Report — 0; 2; 1; 1 Participants
N/A N=36 Flura-seq for Evaluating the Effects of Different Hyperthermic Intraperitoneal Chemotherapy Regimens on the Transcriptome of Pseudomyxoma Peritonei
Pseudomyxoma Peritonei
Primary: Changes in RNA in Tumor Tissues Before and After HIPEC — 1413; 1927 Numbers of changed RNA