Clinical trials: Exome Analysis
Melanoma
Use of Exome Sequence Analysis and Circulating Tumour in Assessing Tumour Heterogeneity in BRAF Mutant Melanoma
Despite recent advances in cancer treatment, little impact has been made on curing as opposed to controlling cancers over the last several decades.
- Trial name
- NCT02251314
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- University Health Network, Toronto
All Types of Metastatic Solid Malignancy, 1st-line Treatment
Study of Cancer Patients' Preferences for Genetic Information Modalities Preceding Theranostic Exome Analysis.
Currently, the EXOMA2 study (NCT04614480) offers earlier and more comprehensive exome analysis in the management of cancer patients than EXOMA.
- Conditions
- All Types of Metastatic Solid Malignancy, 1st-line Treatment, Exome Analysis, Active File EXOMA2 Study
- Trial name
- INFOGENE (NCT06550687)
- Testing
- Cancer patients' preferences regarding genetic information modalities prior to theranostic exome analysis
- Where
- 2 sites in France
- Volunteers
- 80 people
- Sponsor
- Centre Georges Francois Leclerc
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
Renal Cell Carcinoma (Kidney Cancer)
Multi-omics Analysis of Renal Cell Carcinoma Mechanisms; Drug Sensitivity Testing in Patient-Derived Cell-based Microtumors
This is a research study aiming to better understand a type of kidney cancer called Renal Cell Carcinoma (RCC). Doctors have observed that inside some larger RCC tumors, there are multiple smaller nodules.
- Trial name
- NCT07351266
- Testing
- Multi-region Tumor Sampling and Integrated Multi-omics Analysis and Microtumor PTC Drug Sensitivity Assay
- Volunteers
- 10 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Cancer
Exome Analysis (Complexe vs Simple) to Help the Therapeutic Decision for the Precision Medicine
The "simple" analysis of the exome can determine somatic and constitutional mutations. The major challenge lies in the translation of sequencing data into clinically relevant information allowing the clinician to guide his…
- Trial name
- EXOMA2 (NCT04614480)
- Testing
- Exome analysis
- Where
- 12 sites in France
- Volunteers
- 7,976 people
- Sponsor
- Centre Georges Francois Leclerc
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
Pulmonary Dysfunction
Early Pulmonary Dysfunction in Childhood Cancer Patients
This longitudinal, prospective, multicentre study is to monitor lung function prospectively in childhood cancer patients after diagnosis.
- Trial name
- SWISS-Pearl (NCT05427136)
- Testing
- Lung function measurements, Breath Analysis, Magnetic resonance imaging (MRI)
- Where
- 5 sites in Switzerland
- Volunteers
- 140 people
- Sponsor
- University Children's Hospital Basel
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
Carcinoma
What Benefit of a Full Analysis of Exome? Routine Care Study in Patients With Solid Tumors
The management of cancers and their therapeutic guidance was until shortly mostly based on histopathological considerations of the tumor. the development of targeted therapies is a turning point and keeps increase.
- Trial name
- EXOMA (NCT02840604)
- Where
- France
- Volunteers
- 795 people
- Sponsor
- Centre Georges Francois Leclerc
Hypertension;Nephropathy
Whole Exome Sequencing in CKD Hypertension
The prevalence of hypertension in patients with CKD in China is high but the control rate is low. Compared with the single blood pressure measurement method of the blood pressure of the office, ambulatory blood pressure…
- Trial name
- WESCH (NCT03718585)
- Testing
- whole exome sequencing analysis
- Where
- China
- Volunteers
- 4,000 people
- Sponsor
- Fifth Affiliated Hospital, Sun Yat-Sen University
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
Metastatic Breast Cancer
A Pilot Study Utilizing Proteomic and Genomic Profiling for Patients With Metastatic Breast Cancer
This study will use proteomic and genomic profiling to analyze tumor tissue to see if treatment selected by this analysis will benefit patients.
- Trial name
- SO2 (NCT01919749)
- Testing
- treated recommended
- Where
- 2 sites in United States
- Volunteers
- 25 people
- Sponsor
- Translational Drug Development
Cancer, Genetic Predisposition
EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
5 to 10% of cancers are due to the presence of a constitutional genetic alteration. It can be inherited from parents (family form) or by accident, in the first moments of life after fertilization (sporadic form).
- Trial name
- EX²TRICAN (NCT04141462)
- Testing
- blood sample
- Where
- 6 sites in France
- Volunteers
- 613 people
- Sponsor
- Centre Georges Francois Leclerc
Testicular Cancer
WEST-KOaST Study: WES Analysis of Testicular Cancer Patientsand Their First-degree Family Members
The project aims to identify the possible risk factors regarding the onset of the disease and to evaluate genes and gene modifications responsible for the onset od testicular cancer.
- Trial name
- West-KOaSt (NCT06142500)
- Testing
- Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members
- Volunteers
- 4,500 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Cancer Related Fatigue, Fatigue Syndrome, Chronic
Research for Pathophysiology of Cancer Related Fatigue (CRF) and Chronic Fatigue (CFS/ME)
Research for Pathophysiology of Cancer Related Fatigue (CRF) and Chronic Fatigue Syndrome (CFS/ME) by Lipidomics, Metabolomics, Intestinal and Peritoneal Microbiome Analysis and Exome Analysis and Investigation of a Possible…
- Trial name
- IMPROFA (NCT03773003)
- Testing
- Probiotics
- Where
- Germany
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Universität des Saarlandes
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Hearing Impairment
Exome Analysis in Hearing Impaired Patients
Hearing impairment is the most frequent sensory deficit in humans and affects one newborn out of 500. The prevalence rises to 3,5/1000 in teenagers due to retarded forms.
- Trial name
- NGS-NSHL (NCT03557879)
- Testing
- Exome sequencing
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Montpellier