Clinical trials: Whole Genome Sequencing
Acute Lymphoblastic Leukemia
Whole Genome Sequencing (ChromoSeq®) for Acute Lymphoblastic Leukemia (ALL) Patients
This is a prospective data collection study evaluating the feasibility of using the ChromoSeq® assay for upfront classification in a real-time clinical setting of pediatric and young patients suspected of having ALL.
- Trial name
- NCT07313592
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Washington University School of Medicine
Genetic Disease, Genetic Syndrome
Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing.
- Trial name
- NCT03918707
- Testing
- Rapid Whole Genome Sequencing (rWGS)
- Where
- United States
- Volunteers
- 115 people
- Sponsor
- University of Illinois College of Medicine at Peoria
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Computational Modeling of Individual Metabolic Pathways
Continuous N-of-1 Computational Feasibility Study of a Whole Genome Sequence
This is an observational, computational N-of-1 study that uses previously collected Whole Genome Sequencing (WGS) data from a single adult participant to evaluate the feasibility of a deterministic bioenergetic simulation model.
- Trial name
- B2026N1 (NCT07462234)
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Bioactify LLC
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
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
Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in Pediatric Intensive Care in Belgium
Prospective, multi-site, non-randomized (single arm) study to evaluate the feasibility, the yield and clinical utility of trio WGS in 30 critically ill patients in neonatology intensive care units (NICU) and pediatric intensive…
- Trial name
- rWGS_v3 (NCT05337462)
- Where
- 2 sites in Belgium
- Volunteers
- 30 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
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
Spinal Cord Astrocytoma
Genomic Landscape of Intramedullary Astrocytoma
intramedullary astrocytoma is a rare and devastating spinal cord glioma. while the management of intracranial astrocytoma includes gross total resection, radiotherapy and chemotherapy, spinal cord astrocytoma is very difficult to…
- Trial name
- GIMA (NCT04211974)
- Testing
- whole-exome sequencing
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Xuanwu Hospital, Beijing
Heart Defects, Congenital
Genetics of Ventriculo-arterial Discordance
Number of centres planned : 16 centres in France Type of study / Study design : Research Involving the Human Person category 2. Multicentric. Prospective Planning of the study : Total duration: 57,5 months.
- Trial name
- PreciPed (NCT05330338)
- Testing
- Genetic analyses: whole genome sequencing
- Where
- 16 sites in France
- Volunteers
- 600 people
- Sponsor
- Nantes University 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
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
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
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
Cancer Childhood
Ultrafast Whole Genome Sequencing for Childhood Cancer
Cambridge University Hospitals NHS Foundation Trust (CUHNFT) is the Principal Treatment Centre for the East of England region, responsible for 120-150 patients <16 years with a new diagnosis of paediatric malignancy annually;…
- Trial name
- UF-WGS (NCT07201038)
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- University of Cambridge
Bone and Soft Tissue Tumors
Molecular and Clinical Studies of Bone and Soft Tissue Tumors
The goal of this observational study is to learn whether tumors of bone and soft tissue can be sorted into groups by their genes. Today these tumors are named mainly by how they look under a microscope.
- Trial name
- NCT07822204
- Where
- Sweden
- Volunteers
- 50,000 people
- Sponsor
- Karolinska Institutet
Autism Spectrum Disorder (ASD)
Investigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
The goal of this observational study is to investigate the genetic and epigenetic mechanisms that may contribute to the development of Autism Spectrum Disorder (ASD) in individuals of different age groups.
- Trial name
- ASD-Omics-TR (NCT06662591)
- Where
- 20 sites in Turkey (Türkiye)
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Research and Treatment Society of Genetic Disorders
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
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)
Rare Diseases
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue…
- Trial name
- NICU-Seq (NCT03290469)
- Testing
- clinical whole genome sequencing (cWGS)
- Where
- 5 sites in United States
- Volunteers
- 355 people
- Sponsor
- Illumina, Inc.