Clinical trials: Genome
Chronic Pancreatitis, Inflammatory Bowel Diseases
Genomic Resources for Enhancing Available Therapies (GREAT1.0) Study
This is a prospective, descriptive, observational research study designed to observe and document the clinical practice by domain experts, and how the knowledge of new findings that are published in the medical literature affect…
- Conditions
- Chronic Pancreatitis, Inflammatory Bowel Diseases, Hepatitis, NASH - Nonalcoholic Steatohepatitis
- Trial name
- GREAT1 (NCT04306939)
- Testing
- venipuncture, Questionnaires, Additional Sample Collections
- Where
- United States
- Volunteers
- 120,000 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Rare Diseases, Genetic Disease
Genomic Profiling of Genetic and Rare Diseases
In Italy, over 2 million patients are affected by Rare Diseases (RD), which pose significant challenges due to their clinical diversity, long diagnostic processes (often 4-5 years), and high socio-healthcare costs.
- Trial name
- GEN&RARE (NCT06926127)
- Testing
- Whole Exome Sequencing (WES)
- Where
- Italy
- Volunteers
- 1,500 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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
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
Cardiovascular Disease
Genomic Approaches to Common Chronic Disease - Ancillary to ARIC
The ARIC study is a prospective epidemiologic study conducted in four U.S. communities and designed to investigate the etiology and natural history of atherosclerosis, the etiology of clinical atherosclerotic diseases, and…
- Trial name
- NCT00808353
- Volunteers
- 15,792 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Colorectal Cancer
Association of MSI, TS, DPD, MVD and EGFR With Chemosensitivity in Stage IV in Colorectal Cancer
The present project will follow our previous phaseⅡ study of FOLFOX regimens for the treatment of stage Ⅳ colorectal cancer. We will recruit at least 200 patients for this study.
- Trial name
- NCT00173472
- Testing
- Chemotherapy
- Where
- Taiwan
- Volunteers
- 200 people
- Sponsor
- National Taiwan University Hospital
Advanced Incurable Cancers
Utilization of Genomic Information to Augment Chemotherapy Decision-making for People With Incurable Malignancies
Most systemic therapies are chosen on the basis of large randomized clinical trials; however, tumour heterogeneity means that cancers with similar histological features may have substantially different underlying biological…
- Trial name
- NCT01802905
- Testing
- in depth genomic sequencing
- Where
- Canada
- Volunteers
- 100 people
- Sponsor
- British Columbia Cancer Agency
Colorectal Cancer, APC Gene Mutation
Patogenic Mutation in 5 Genes
This is a pathogenic mutation profile of colorectal patients specifically in 5 genes, i.e. APC, TP53, PIK3CA, KRAS, and MLH1. Single nucleotide variants identified were synchronized with patients' characteristics.
- Conditions
- Colorectal Cancer, APC Gene Mutation, TP53 Gene Mutation, PIK3CA Gene Mutation
- Trial name
- NCT04976439
- Testing
- co-occuring mutation
- Where
- Indonesia
- Volunteers
- 22 people
- Sponsor
- Dr Cipto Mangunkusumo General Hospital
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics
Cluster Detection
CLUSTER Trial for Outbreak Detection and Response
Despite the critical importance of identifying hospital-associated outbreaks as early as possible in order to limit their spread, there are currently no standardized methods for cluster detection.
- Trial name
- CLUSTER (NCT04053075)
- Testing
- Routine cluster detection, Enhanced cluster detection
- Where
- 82 sites in United States
- Volunteers
- 2,905,455 people
- Sponsor
- Harvard Pilgrim Health Care
Advanced Solid Tumors, Colorectal Cancer
A Study to Evaluate the Safety, Pharmacokinetics, and Anti-Tumor Activity of VVD-133214 as Monotherapy and in Combination in Participants With Advanced Solid Tumors
This is a first-in-human, Phase I, open-label, multicenter, dose-escalation and dose expansion study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary anti-tumor activity of VVD-133214…
- Trial name
- NCT06004245
- Testing
- VVD-133214, Pembrolizumab, Bevacizumab
- Where
- 55 sites in United States, Australia and 9 more
- Volunteers
- 280 people
- Sponsor
- Vividion Therapeutics, Inc.
Monoclonal Gammopathy of Undetermined Significance, Smoldering Multiple Myeloma
Genomic and Psychosocial Effects of the 3RP on Patients With MGUS and Smoldering Multiple Myeloma
This research study is evaluating the effects of a mind body medicine intervention called the Relaxation Response Resiliency Program (3RP) on stress and stress related symptoms in patients with monoclonal gammopathy of…
- Trial name
- NCT01955395
- Testing
- Relaxation Response Resiliency Program (3RP)
- Where
- 3 sites in United States
- Volunteers
- 93 people
- Sponsor
- Dana-Farber Cancer Institute
Vascular Diseases
The Framingham Study: Examining DNA Markers and Links to Diseases
Since 1948, residents of Framingham, Massachusetts, have participated in a program that collects blood samples and clinical data to provide a rare and valuable database for scientific research.
- Trial name
- NCT00062777
- Where
- United States
- Volunteers
- 330 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Kawasaki Disease
Clinical Precise Diagnosis and Treatment in the Kawasaki Disease
The purpose of this project is to explore the differential gene expression profile of Kawasaki disease, and will explore the diagnosis and treatment targets related to coronary artery injury or kawasaki disease susceptibility…
- Trial name
- NCT05347901
- Testing
- Echocardiography, Genomics NGS sequencing
- Where
- 4 sites in China
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- Affiliated Hospital of Nantong University
Coronary Artery Disease
Polygenic Risk-based Detection of Subclinical Coronary Atherosclerosis and Change in Cardiovascular Health
The goal of this randomized controlled trial is to assess the impact of disclosing a high polygenic risk result for coronary artery disease on change in cardiovascular health over one year.
- Trial name
- PROACT 1 (NCT05819814)
- Testing
- Disclosure of high polygenic risk result for coronary artery disease
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Massachusetts General Hospital
Genetic Disease, Genetic Syndrome
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of…
- Trial name
- NCT03458962
- Testing
- Genetic Enrollees
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Post-menopausal ER+ Stage I-IIIA Primary Operable Breast Cancer
Anti-Proliferative Effects and Genomic Alterations of Abiraterone Acetate Compared to an Aromatase Inhibitor in Post-menopausal HR+ Operable Breast Cancer
This study is being offered to patients who are post-menopausal, have breast cancer with a positive estrogen and/or progesterone hormone receptor test and are currently awaiting surgery for breast cancer.
- Trial name
- NCT01814865
- Testing
- Abiraterone Acetate, Prednisone, Aromatase Inhibitor
- Where
- 4 sites in Canada
- Sponsor
- British Columbia Cancer Agency
Breast Neoplasms
Genomic Signatures to Predict Treatment Response
A genomic test was developed to predict chemo-sensitivity to taxane-anthracycline-based chemotherapy as neoadjuvant treatment. The primary aim of this study is to prospectively evaluate the microarray-based, genomic test as a…
- Trial name
- AGO-Austria (NCT02032745)
- Where
- Austria
- Volunteers
- 277 people
- Sponsor
- Medical University of Graz
Carcinoma, Renal Cell, Von Hippel-Lindau Disease
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates…
- Trial name
- SoMuKT (NCT06194669)
- Testing
- Blood and urine sample collection
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- IRCCS San Raffaele
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
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