Clinical trials: Whole Genome Sequencing
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
Undiagnosed Disease
Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at…
- Trial name
- NCT02927158
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Hereditary Diseases, Critical Illness
UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults
The goal of this study is to learn how clinical whole genome sequencing can help identify diagnoses and guide medical care in adults.
- Trial name
- NCT07718971
- Testing
- Genome sequencing
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Washington
Schizophrenia, Healthy (Controls)
Exploring the Genetics of Schizophrenia in Manitoba
Schizophrenia is a serious mental illness that affects about 1 in 100 Canadians, shortens life expectancy, and places a large burden on individuals, families, and the healthcare system.
- Trial name
- GENES-MB (NCT07656870)
- Where
- Canada
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- University of Manitoba
Bone Marrow Failure Syndromes, Erythrocyte Disorder
Investigation of the Genetics of Hematologic Diseases
The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases.
- Conditions
- Bone Marrow Failure Syndromes, Erythrocyte Disorder, Leukocyte Disorder, Hemostasis
- Trial name
- NCT02720679
- Where
- United States
- Volunteers
- 1,716 people
- Sponsor
- St. Jude Children's Research Hospital
Inherited BMF Syndrome, Inherited Platelet Disorder
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase…
- Conditions
- Inherited BMF Syndrome, Inherited Platelet Disorder, Hematologic Diseases
- Trial name
- IBMDx (NCT05196789)
- Testing
- whole genome and transcriptome sequencing
- Where
- Australia
- Volunteers
- 350 people
- Sponsor
- Peter MacCallum Cancer Centre, Australia
Analysis Transmission Rate
Comparison of Pulsed-field Gel Electrophoresis and Whole Genome Sequencing to Determine Transmission Rate of ESBL-producing E.Coli
The aim of this quality control study is to compare two different techniques to determine ESBL-producing E.coli transmission.
- Trial name
- PFGE-WGS (NCT04323553)
- Testing
- Pulsed-field gel electrophoresis and whole genome sequencing, Data collection
- Where
- Switzerland
- Volunteers
- 43 people
- Sponsor
- University Hospital, Basel, Switzerland
Genetic Predisposition
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Background: The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or…
- Trial name
- NCT01375543
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Glioblastoma
Glioblastoma Targeted Treatment Option Maximization by WGS
In Dutch centers performing neurosurgery on and/or treating GBM, all recurrent GBM patients are discussed in local tumor boards and this setup will be used to effectively identify possible GLOW study candidates.
- Trial name
- GLOW (NCT05186064)
- Testing
- whole genome sequencing
- Where
- Netherlands
- Volunteers
- 164 people
- Sponsor
- UMC Utrecht
Tuberculosis
Whole Genome Sequencing of Tuberculosis for Disease Control in Madagascar
Tuberculosis (TB) whole genome sequencing (WGS) allows outbreak identification and disease transmission tracking. It is hypothesized that prospective WGS-guided epidemiological investigations improve case detection compared to…
- Trial name
- TB_WGS_cRCT (NCT05406453)
- Testing
- Whole Genome Sequencing testing
- Where
- Madagascar
- Volunteers
- 98,362 people
- Sponsor
- Institut Pasteur de Madagascar
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
Hematologic Diseases
Integrated Whole-Genome Analysis of Hematologic Disorders
We will use new technologies to look at the DNA, RNA, proteins, and metabolites in the disease-containing blood, bone marrow, or tissue and normal cells from the skin.
- Trial name
- NCT01108159
- Testing
- Blood Draw, Skin Biopsy
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Stanford University
Microbiota in Patients With Urinary Bladder Carcinoma in Urine and Cancer Tissues
Microbiota in Urine and Urothelium Can be a Factor for Induction of Urinary Bladder Cancer. The Study Will Examine Urine and Bladder Tissues From Egyptian Male Patients and Controls Using Whole Genomic Sequencing Techniques and 16S rRNA. The Aim is to Elucidate Role of Microbiota in Bladder Cancer.
Microbes inhabiting the urinary tract that are playing an important role in maintenance of health and the development of diseases and bladder cancer. There is correlation between initiation of bladder cancer and microbes.
- Trial name
- Cancer bladder (NCT06289270)
- Where
- 2 sites in Egypt
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Theodor Bilharz Research Institute
Inherited Retinal Dystrophy, Retinitis Pigmentosa
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness.
- Conditions
- Inherited Retinal Dystrophy, Retinitis Pigmentosa, Macular Dystrophy
- Trial name
- NCT05793515
- Testing
- whole genome sequencing
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- Istituto Superiore di Sanità
Cancer Predisposition Syndromes, Pediatric Cancer
Questionnaire on Congenital Cancer Signs Through Self-Assessment
This clinical trial tests whether a patient- and caregiver-completed questionnaire (QUOCCAS) can accurately help identify children and adolescents with cancer who may have an underlying cancer predisposition syndrome (CPS).
- Conditions
- Cancer Predisposition Syndromes, Pediatric Cancer, Childhood Neoplasms, Hereditary Cancer Syndromes
- Trial name
- QUOCCAS (NCT07378423)
- Testing
- Pre-Visit Preparation (PVP) Brochure, QUOCCAS Questionnaire, Germline genetic sequencing for Cancer Predisposition Syndromes (CPS)
- Where
- Switzerland
- Volunteers
- 205 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Cardiovascular Diseases
CardioSeq: Impact of WGS in Individuals With CVD
This is a prospective, single-center, open-label study to investigate the diagnostic efficacy of the TruGenome CVD test and its impact on clinical management compared to usual care in individuals with cardiovascular disease.
- Trial name
- NCT05656183
- Testing
- TruGenome Cardiovascular Disease test
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Illumina, Inc.
Rare Diseases, Genetic Predisposition to Disease
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome…
- Trial name
- NCT04315727
- Testing
- WGS Diagnostic Blood take for genetic diagnostic., Hair collection
- Where
- 2 sites in Germany
- Volunteers
- 100 people
- Sponsor
- University Hospital Tuebingen
Nontuberculous Mycobacterium Infection, Whole Genome Sequencing
WGS of NTM From Sputum of NTM Lung Disease Patients and From Their Environments
The purpose of the study is to identify the genetic closeness of NTM derived from patients living together and from their surrounding environment and to trace the temporal relationship between them.
- Trial name
- NTM_HOME (NCT03532438)
- Where
- South Korea
- Volunteers
- 6 people
- Sponsor
- Seoul National University Hospital
Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive
Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis
This pilot study investigates integrating whole genome sequencing and digital twin technology for managing hypercholesterolemia in Abu Dhabi clinics.
- Conditions
- Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive, Familial Combined Hypercholesterolemia
- Trial name
- NCT06535542
- Testing
- Whole Genome Sequencing
- Where
- United Arab Emirates
- Volunteers
- 40 people
- Sponsor
- Abu Dhabi Health Services Company
Necrotizing Enterocolitis
Application of Transcriptome Sequencing Combined With Family-Based Whole Genome Sequencing in Improving Precise Diagnosis of Critically Ill Newborns in Northeast China
Background: Birth defects and genetic diseases are major threats to infant health. Many genetic diseases present atypically in newborns, who often have critical conditions, rapid progression, and high mortality.
- Trial name
- NCT06990334
- Testing
- Whole genome sequencing analysis
- Volunteers
- 1,000 people
- Sponsor
- The First Hospital of Jilin University