Clinical trials: Whole Genome Sequencing
Epilepsy
Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services
Overall, this observational cohort study aims too: 1. Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age. 2.
- Trial name
- Gene-STEPS (NCT06082999)
- Where
- 4 sites in United States, Australia and 2 more
- Volunteers
- 300 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Rare Diseases, Genetic Predisposition
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio…
- Trial name
- NCT03954652
- Testing
- WGS-Diagnostic
- Where
- Germany
- Volunteers
- 1,350 people
- Sponsor
- University Hospital Tuebingen
Endometrial Cancer, Atypical Endometrial Hyperplasia
Liquid Biopsy-Based Early Screening for Endometrial Cancer in Regional Chinese Populations
Endometrial cancer is one of the most common gynecological malignancies, and its incidence is rising. Currently, there is a lack of highly effective and non-invasive screening methods.
- Trial name
- NCT07892755
- Where
- China
- Volunteers
- 512 people, healthy volunteers welcome
- Sponsor
- Guizhou Provincial People's Hospital
Rare Diseases, Genetic Predisposition to Disease
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).
- Trial name
- GE-MED (NCT04760522)
- Testing
- WGS Diagnostic: Blood take for genetic diagnostic
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
Cervical Adenocarcinoma, Human Papillomavirus
HPV Integration and Tumorigenesis of Uterine Cervical Adenocarcinoma
This study aims to analyze the multi-omics results between uterine cervical adenocarcinoma patients with and without human papillomavirus (HPV) infections.
- Conditions
- Cervical Adenocarcinoma, Human Papillomavirus, Genome-wide Association Study, Whole Exome Sequencing
- Trial name
- NCT03742869
- Testing
- A multi-omics analysis
- Where
- China
- Volunteers
- 40 people
- Sponsor
- Lei Li
Biliary Tract Cancer
Molecular Profiling of Advanced Biliary Tract Cancers
Biliary tract cancer (BTC) accounts for <1% of all cancers, but remains a highly fatal malignancy. Surgical resection is the only hope for cure, but most patients present with advanced disease when curative-intent surgery is not…
- Trial name
- COMPASS-B-MUHC (NCT04318834)
- Testing
- Tumour and germline molecular profiling
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Neurologic Deficits, Neurologic Disorder
NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology
Prospective, multi-site, single-arm study to evaluate the diagnostic yield of cWGS in adults with neurological disorders. A single cohort naive of genetic testing will receive standard of care testing for 180 days followed by…
- Conditions
- Neurologic Deficits, Neurologic Disorder, Neurologic Abnormalities
- Trial name
- NeuroSEQ (NCT04170985)
- Testing
- clinical Whole Genome Sequencing
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
Adults Patients, With Fecal Carriage of Multi-Drug Resistant Enterobacterales (MDR-E)
Household Transmission Dynamics of Multidrug Resistant Enterobacterales
The HOME study will prospectively follow a cohort of Multi-Drug Resistant Enterobacterales (MDR-E) carriers after hospital discharge, and their related household members over a 3-month period.
- Trial name
- HOME (NCT05798364)
- Where
- France
- Volunteers
- 507 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Infant, Newborn, Disease, Genetic Disease
Genome Sequencing in the Intensive Care Unit Population
The purpose of this study is to understand how the use of whole genome sequencing (WGS) may be able to increase the speed with which a diagnosis is made for patients in an intensive care unit population.
- Trial name
- PISCES (NCT04848090)
- Testing
- Neonate WGS Testing
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Jerry Vockley, MD, PhD
Hepatocellular Carcinoma, Hepatitis C
Genome Studies of Hepatocellular Carcinoma Developed in Hepatitis C Patients With Sustained Virological Response
In this international collaboration study, the research group will analyze somatic mutations of hepatocellular carcinoma (HCC) developed after sustained virological response (SVR) in patients treated with hepatitis C (HCV) therapy
- Trial name
- HEPCASUS (NCT03254121)
- Where
- Sweden
- Volunteers
- 93 people
- Sponsor
- Karolinska Institutet
Genetic Disease
Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk
Maternal and infant health is the foundation of public health, and its status directly reflects the overall health level of the population.
- Trial name
- NCT07365254
- Where
- China
- Volunteers
- 1,000,000 people, healthy volunteers welcome
- Sponsor
- Women's Hospital School Of Medicine Zhejiang University
Microbiome, Human
Effects of IAP-EOGBSD on Maternal Vaginal Microbiome, Offspring's Gut Microbiome and Metabolites.
In view of the current status of prevention and research on GBS disease in mothers and infants at home and abroad, this project intends to explore the characteristics of vaginal microbiota of GBS-colonized pregnant women in…
- Trial name
- NCT05738473
- Testing
- antibiotic
- Where
- China
- Volunteers
- 492 people, healthy volunteers welcome
- Sponsor
- Zhujiang Hospital
Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate
Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Brief Summary: Nonimmune hydrops fetalis (NIHF) is a potentially fatal condition characterized by abnormal fluid accumulation in two or more fetal compartments.
- Conditions
- Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
- Trial name
- NCT03911531
- Testing
- Whole Exome Sequencing, Whole Genome Sequencing
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Thomas Jefferson University
Breast Cancer
Clinical Application of ctDNA in Early Screening of Breast Cancer
The investigators aim to evaluate the possibility of clinical application of ctDNA detection in peripheral blood of normal people, benign breast disease patients and breast cancer patients, so as to act as the new techniques or…
- Trial name
- NCT03973034
- Testing
- Low depth whole genome sequencing
- Volunteers
- 300 people
- Sponsor
- Peking Union Medical College Hospital
COVID-19
NGS Diagnostic in COVID-19 Hosts - Genetic Cause Relating to the Course of Disease Progression
In this study (i) the host genome to identify susceptibility regions of infection, inflammation, and host defense, (ii) host response to Severe Acute Respiratory Syndrome-Corona-Virus-2 (SARS-CoV-2) infection, and (iii) viral…
- Trial name
- COVID-19 NGS (NCT04364828)
- Testing
- Whole Genome Analysis, T-cell receptor (TCR) repertoire, SARS-CoV-2 viral composition
- Where
- Germany
- Volunteers
- 1,000 people
- Sponsor
- University Hospital Tuebingen
Whole Genome Sequencing, Genetic Disease
N-Care Project: Enhancing Asian-Pacific Collaboration
Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for…
- Conditions
- Whole Genome Sequencing, Genetic Disease, Critical Care, Intensive Care, Nanopore Sequencing
- Trial name
- N-Care project (NCT06821386)
- Testing
- Genetic study with nanopore sequencing
- Where
- Taiwan
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Genetic Diseases, Inborn
Whole Genome Sequencing in the Neonatal Intensive Care Unit
This research is being done to see if whole genome sequencing (WGS) improves the diagnosis of patients in the NICU. Using WGS in this way, which is relatively new, researchers at Penn State College of Medicine will look at…
- Trial name
- NCT03721458
- Testing
- Sequence
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Milton S. Hershey Medical Center
Breast Cancer
Genomic and Transcriptomic Predictors of Sequential SG Sensitivity After T-DXd in ER+/HER2-Low Metastatic Breast Cancer
Advanced hormone positive (HR+), HER2 negative breast cancer continues to pose a challenge when patients have progressed on CDK4/6 inhibitor and endocrine therapy leaving limited treatment options.
- Trial name
- NCT06665178
- Testing
- Sacituzumab Govitecan
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- British Columbia Cancer Agency
Non-small Cell Lung Cancer, Breast Cancer
Copenhagen Master Observational Trial
The primary objectives of this prospective non-interventional study (NIS) are to assess and describe outcomes in relation to biomarkers, including whole-genome sequencing (WGS) in patients with non- small cell lung cancer (NSCLC)…
- Trial name
- C-MOT (NCT05145244)
- Testing
- No Intervention: Observational Cohort
- Where
- Denmark
- Volunteers
- 2,400 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Mycobacterium Avium, Mycobacterium Infections, Nontuberculous
M. Avium WGS During Mav-PD Treatment
This is a prospective observational study using whole genome sequencing (WGS) to investigate whether new strains (other than the initially identified strain(s)) of M.
- Conditions
- Mycobacterium Avium, Mycobacterium Infections, Nontuberculous, Mycobacterium Infections, Nontuberculous Mycobacterial Lung Disease
- Trial name
- NCT06266442
- Testing
- Whole genome sequencing testing
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- University Health Network, Toronto