Clinical trials: Whole Genome Sequencing
Adverse Drug Reaction (ADR), Polypharmacy Patients
IPGx PILOT Whole Genome Sequencing Extension Cohort
The investigator's primary aim is to evaluate polypharmacy-associated adverse drug reactions (ADR) in a pilot study of at-risk patients using state-of-the-art pharmacogenomic technology and to use this information to make…
- Trial name
- NCT06766071
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Texas A&M University
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
High Grade Serous Ovarian Cancer, Cervical Cancer Screening
Routine Shallow-coverage Whole Genome Sequencing Testing of Liquid-based Cervical Smears for the Early Diagnosis of Ovarian Cancer
High-grade serous ovarian carcinoma (HGSOC) is the deadliest gynaecological tumour. The 5-year overall survival rate for advanced-stage disease is less than 30 per cent, due to diagnosis at an advanced stage.
- Conditions
- High Grade Serous Ovarian Cancer, Cervical Cancer Screening, Whole Genome Sequencing, Genomic Instability
- Trial name
- SHALLOW ROUTE (NCT07821879)
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Institut Claudius Regaud
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
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
Peripheral T Cell Lymphoma
Circulating Tumor DNA Sequencing in Patients With Peripheral T-cell Lymphomas
The purpose of this study is to assess the feasibility of analyzing circulating tumor DNA (ctDNA) as a biomarker using the shallow whole genome sequencing (lpWGS) technique coupled with deep sequencing of a targeted panel of…
- Trial name
- PTCL-SEQ (NCT06089941)
- Testing
- circulating tumoral DNA detection
- Where
- France
- Volunteers
- 45 people
- Sponsor
- Centre Henri Becquerel
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
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
Genetic Eye Disease
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the…
- Trial name
- NCT02077894
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Eye Institute (NEI)
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
Developmental and Epileptic Encephalopathy, Epilepsy in Children
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
This study focuses on children with Developmental and Epileptic Encephalopathy (DEE), a severe form of epilepsy that often has a genetic origin.
- Trial name
- EEPILOG (NCT07396883)
- Testing
- Long-read Whole Genome Sequencing (lrWGS)
- Where
- 4 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Strasbourg, France
Cancer, Pediatric Cancer
Retrospective WGS Study
This retrospective case series reviews clinical notes to assess whether NHS whole genome sequencing provides tangible benefits for paediatric tumours.
- Conditions
- Cancer, Pediatric Cancer, Neoplasm
- Trial name
- NCT06820294
- Testing
- No intervention
- Where
- United Kingdom
- Volunteers
- 2,000 people
- Sponsor
- The Wellcome Sanger Institute
Pulmonary Nodule, Solitary, Whole-genome Methylation Sequencing
Benign/Malignant Pulmonary Nodule Classification Based on High-throughput Whole-genome Methylation Sequencing(GM-seq)
Lung cancer is the first cancer in China in terms of morbidity and mortality. The problem of early diagnosis/treatment has always been concerned.
- Trial name
- NCT05415670
- Testing
- Whole-genome Methylation Sequencing(GM-seq)
- Where
- 2 sites in China
- Volunteers
- 158 people, healthy volunteers welcome
- Sponsor
- Geneplus-Beijing Co. Ltd.
Congenital Malformations
Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).
- Trial name
- CARTOGEN-N (NCT07370792)
- Testing
- blood sample
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Céline PEBREL-RICHARD
Syphilis
Global Syphilis Sequencing
Syphilis is an important sexually transmitted infection. There has been an epidemic of syphilis amongst men who have sex with men in the United Kingdom in the last decade.
- Trial name
- NCT03709862
- Testing
- Whole Genome Sequencing
- Where
- 5 sites in United Kingdom
- Volunteers
- 726 people
- Sponsor
- London School of Hygiene and Tropical Medicine
Whole Genome Sequencing
A Study of Consent Forms for Whole Exome and Whole Genome Sequencing
Background: The purpose of this study is to investigate the process of consenting participants to whole exome/genome sequencing and its outcomes. It is unknown how best to consent people to this new technology.
- Trial name
- NCT01927770
- Where
- United States
- Volunteers
- 212 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Intellectual Disability, Multiple Congenital Anomaly
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and…
- Conditions
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- Trial name
- NCT03424772
- Testing
- Whole genome sequencing
- Where
- 14 sites in China
- Volunteers
- 100 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Pneumonia, Pneumococcal, Pneumonia Childhood
Paediatric Pneumococcal Pneumonia in Malaysia Prior to and During Pneumococcal Conjugate Vaccine (PCV) Implementation
The purpose of this research is to provide baseline surveillance of pneumonia in young children in Malaysia before and during the implementation of the pneumococcal conjugate vaccine (PCV).
- Trial name
- MSIP PCV (NCT04923035)
- Where
- 3 sites in Malaysia
- Volunteers
- 1,010 people, healthy volunteers welcome
- Sponsor
- IMU University, Malaysia
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
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