Clinical trials: Genomic Testing
Sequence Analysis
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens
Genomic alterations have long been recognized as an important factor in tumor formation and drive tumor cell growth. However, the degree of genomic mutation (tumor mutation load, TMB) varies widely between tumors.
- Trial name
- NCT03719222
- Testing
- non intervention
- Where
- Taiwan
- Volunteers
- 600 people
- Sponsor
- ACT Genomics
Rare Genetic Disease
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia.
- Trial name
- ARNseqFibroSan (NCT07075107)
- Testing
- Blood collection, skin biopsy
- Where
- France
- Volunteers
- 62 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Crohn's Disease, Genetic Predisposition
Abnormal Fecal Microbiota in Healthy Subjects at High Risk for Crohn's Disease
Transversal multicentric French study on the microbiota in patients with Crohn's disease and their first degree healthy relatives The primary objective is the comparison of microbiota between patients with CD, healthy controls…
- Trial name
- MAGIC (NCT02826330)
- Testing
- biomarkers
- Where
- 10 sites in France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Glioma, Glioma of Brain
Clinical Benefit of Using Molecular Profiling to Determine an Individualized Treatment Plan for Patients With High Grade Glioma
This is a 2 strata pilot trial within the Pacific Pediatric Neuro-Oncology Consortium (PNOC). The study will use a new treatment approach based on each patient's tumor gene expression, whole-exome sequencing (WES), targeted panel…
- Conditions
- Glioma, Glioma of Brain, Cancer, Pediatric Cancer
- Trial name
- PNOC008 (NCT03739372)
- Testing
- Specialized tumor board recommendation
- Where
- 12 sites in United States
- Volunteers
- 44 people
- Sponsor
- University of California, San Francisco
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
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
Immune Disorders
NIAID Clinical Center Genomics Opportunity Protocol
Background: There are many types of immune disorders. These range from rare immune deficiencies to allergies to autoimmune disease like rheumatoid arthritis. Genes are the instructions our body uses to work and develop.
- Trial name
- NCT02417766
- Where
- United States
- Volunteers
- 139 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Advanced Cancers
Genomic Profiling Assay in Phase I
The goal of this research study is to collect and test tumor tissue from patients with advanced cancers that may be enrolled in Phase 1 studies or other treatments.
- Trial name
- NCT02437617
- Testing
- Tumor Tissue
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- M.D. Anderson Cancer Center
Thoracic Organ Transplantation
Genome Transplant Dynamics
Study Description: Heart and lung transplants can save lives, but long-term success is often limited by organ rejection that is hard to detect early.
- Trial name
- NCT02423070
- Where
- 7 sites in United States
- Volunteers
- 991 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Breast Neoplasms
Sweden Cancerome Analysis Network - Breast : Genomic Profiling of Breast Cancer
This study evaluates the genomic profiles of breast cancer in a prospective and population-based manner. In the first phase, breast tumors are analyzed by whole transcriptome RNA-sequencing.
- Trial name
- SCAN-B (NCT02306096)
- Where
- 10 sites in Sweden
- Volunteers
- 20,000 people
- Sponsor
- Lund University
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
Soft Tissue Sarcoma, Advanced Cancer
RNASARC - Molecular Screening Program of Soft Tissue Sarcomas With Complex Genomic Profile to Detect NTRK1/2/3, ROS1 or ALK Gene Fusions.
This trial is a multicenter, prospective cohort study aiming to describe molecular profiles of soft tissue sarcoma (STS) with complex genomic profiles in particular to assess the incidence of NTRK1/2/3, ROS1 or ALK gene fusions…
- Conditions
- Soft Tissue Sarcoma, Advanced Cancer, Metastatic Cancer
- Trial name
- RNASARC (NCT03375437)
- Testing
- Blood and tumor samples
- Where
- 10 sites in France
- Volunteers
- 376 people
- Sponsor
- Centre Leon Berard
Exostoses, Multiple Hereditary
Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC
The purpose of this study is to establish the genetic profile of families in British Columbia with HME.
- Trial name
- NCT00473850
- Where
- Canada
- Volunteers
- 2,000 people
- Sponsor
- University of British Columbia
Schizophrenia, Dissociative Disorders
the Phenotypic and Genetic Profile of Patients With Early Onset Schizophrenia Associated With Autism Spectrum Disorder.
Early onset schizophrenia "early dissociative disorder" is a rare disorder with a low incidence of approximately (1/5000 to 1/20000).
- Trial name
- GenAuDiss (NCT02565524)
- Testing
- genetic and phenotypic profile
- Where
- France
- Volunteers
- 111 people
- Sponsor
- Fondation Lenval
Head and Neck Neoplasms
Molecular and Genomic Profiling of Head and Neck Tumors
The purpose of this study is to study the genetic profile of head and neck tumors and their relationship to treatment response and outcome
- Trial name
- NCT00200486
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Montefiore Medical Center
Scleroderma, Localized, Morphea
Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository
The Morphea in Adults and Children (MAC) cohort is the first registry for both children and adults with morphea (also known as localized scleroderma) in the country.
- Conditions
- Scleroderma, Localized, Morphea, Frontal Linear Scleroderma en Coup de Sabre, Scleroderma, Circumscribed
- Trial name
- MAC (NCT01808937)
- Testing
- Morphea
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Breast Cancer, Prostate Cancer
Tempus Priority Study: A Pan-tumor Observational Study
Observational study that will be collecting clinical and molecular health information from cancer patients who have received comprehensive genomic profiling and meet the specific eligibility criteria outlined for each cohort with…
- Conditions
- Breast Cancer, Prostate Cancer, Bladder Cancer, Lung Cancer
- Trial name
- NCT05179824
- Testing
- Observation
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Tempus AI
Solid Tumors, Hematologic Cancers
Genomic Profiling in Cancer Patients
The purpose of this study is to determine whether certain genes in cancer may be abnormal. When a gene is abnormal this is called a mutation.
- Trial name
- NCT01775072
- Testing
- molecular profiling of tumors, Clinical Germline Analysis
- Where
- 18 sites in United States
- Volunteers
- 200 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Cystic Fibrosis
Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), which is located at 7q31.2 and encodes 1480 amino acids.
- Trial name
- NCT05599958
- Testing
- sweat chloride test, genetic testing
- Where
- Egypt
- Volunteers
- 152 people
- Sponsor
- Sohag University
Chronic Kidney Disease(CKD), Genetic Kidney Disease
Genomic First Testing in Chronic Kidney Disease
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program…
- Trial name
- NCT06794567
- Testing
- Genetic Testing
- Where
- Canada
- Volunteers
- 2,400 people, healthy volunteers welcome
- Sponsor
- Dervla Connaughton