Clinical trials: Somatic Mutation, active
Uterine Neoplasms, Uterine Cervical Neoplasms
Basket Study of Tucatinib and Trastuzumab in Solid Tumors With HER2 Alterations
This trial studies how well tucatinib works for solid tumors that make either more HER2 or a different type of HER2 than usual (HER2 alterations) The solid tumors studied in this trial have either spread to other parts of the…
- Conditions
- Uterine Neoplasms, Uterine Cervical Neoplasms, Biliary Tract Neoplasms, Urologic Neoplasms
- Trial name
- NCT04579380
- Testing
- tucatinib, trastuzumab, fulvestrant
- Where
- 108 sites in United States, Belgium and 6 more
- Volunteers
- 217 people
- Sponsor
- Seagen, a wholly owned subsidiary of Pfizer
Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation
A Retrospective Study of EGFR-TKIs,Gefitinib, Erlotinib and Osimertinib in NSCLC Patients Treatment
For patients of advanced NSCLC (non small cell lung cancer) , Individualized cancer therapy has been widely accepted since the success of crizotinib administration based on EML4-ALK fusion gene detection and gefitinib and…
- Conditions
- Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation, EGFR-TKI Sensitizing Mutation, Germline Mutations
- Trial name
- NCT01994057
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Sun Yat-sen University
Advanced Solid Tumor
Study of CX-5461 in Patients With Solid Tumours and BRCA1/2, PALB2 or Homologous Recombination Deficiency (HRD) Mutation
This is an open-label, multi-center, phase 1b study designed to determine a tolerable dose of CX-5461 administered by IV infusion on Day 1 and Day 8 of a 28-day cycle in patients with selected solid tumours and associated…
- Trial name
- NCT04890613
- Testing
- CX-5461
- Where
- 8 sites in United States, Canada
- Volunteers
- 52 people
- Sponsor
- Senhwa Biosciences, Inc.
Brain Arterial Disease
Liquid Biopsies for the Detection of Somatic Mutations in bAVMs
"Personalized medicine has revolutionized patient care, particularly in oncology. Brain arteriovenous malformations (bAVMs) are abnormal vessels located on the surface of the brain or within the brain parenchyma, causing abnormal…
- Trial name
- BioMAV (NCT06494358)
- Testing
- liquid biopsies and surgery specimen analysis
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
ALL, Childhood, Pediatric Cancer
Pharmacogenomic Association Study in Indian Children With Acute Lymphoblastic Leukemia
A five-year prospective observational cohort study. The study is focused on observing the relation between static germline variants and therapeutic response in Indian children with acute lymphoblastic leukemia (ALL).
- Conditions
- ALL, Childhood, Pediatric Cancer, Toxicity, Drug, Adverse Drug Event
- Trial name
- MPGx-INDALL (NCT05512169)
- Where
- 2 sites in India
- Volunteers
- 556 people
- Sponsor
- University of Geneva, Switzerland
ER-positive and HER2-negative Metastatic or Locally Advanced Breast Cancer, a Germline or Somatic BRCA Mutation, or a Deleterious Alteration of Other Genes Involved in Homologous Recombination Repair (HRR) or in MSI Status
Durvalumab, With Olaparib and Fulvestrant in Advanced ER+, HER2- Breast Cancer Patients.
This study evaluates the efficacy of the combination of olaparib, durvalumab, and fulvestrant for the treatment of patients with ER-positive, HER2-negative, locally advanced or metastatic breast cancer with BRCA gene alterations…
- Trial name
- DOLAF (NCT04053322)
- Testing
- Durvalumab, Olaparib, Fulvestrant
- Where
- 2 sites in France
- Volunteers
- 172 people
- Sponsor
- UNICANCER
Non Small Cell Lung Cancer Metastatic
A Study of Stereotactic Radiosurgery (SRS) and Standard Treatment in People With Lung Cancer That Has Spread to the Brain
The researchers are doing this study is to find out whether treating brain metastasis with SRS after 3 months of therapy with osimertinib is better than treating with osimertinib alone in people with NSCLC.
- Trial name
- NCT06741085
- Testing
- osimertinib, stereotactic radiosurgery (SRS)
- Where
- 8 sites in United States
- Volunteers
- 56 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Paraganglioma, Pheochromocytoma
Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study
Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late.
- Conditions
- Paraganglioma, Pheochromocytoma, Genetic Predisposition to Disease, Pathology
- Trial name
- PPGL-Pred (NCT04788927)
- Where
- 2 sites in Denmark
- Volunteers
- 400 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Prostatic Neoplasms
A Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for the Treatment of Participants With Deleterious Germline or Somatic Homologous Recombination Repair (HRR) Gene-MutatedProstatic Neoplasms (mCSPC)
The purpose of the study is to determine if the combination of niraparib with Abiraterone Acetate (AA) plus prednisone compared with AA plus prednisone in participants with deleterious germline or somatic Homologous Recombination…
- Trial name
- AMPLITUDE (NCT04497844)
- Testing
- Niraparib+ Abiraterone acetate fixed dose combination (FDC), Abiraterone acetate (AA), Prednisone
- Where
- 387 sites in United States, Argentina and 31 more
- Volunteers
- 696 people
- Sponsor
- Janssen Research & Development, LLC
Women With Suspected or Confirmed Gynecological Disease
DOvEEgene Fleur: New Uterine Sampling Tool
This study is related to a previous study from the same group which started in 2014 (NTC02288676, McGill REB A08-M79-13B, MUHC REB 2020-5945) to develop a clinically implementable screening test -DovEEgene: developing and…
- Trial name
- NCT04258449
- Testing
- DOvEEgene Fleur Sampling
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- McGill University
VEXAS Syndrome
A Study Evaluating the Efficacy and Safety of Momelotinib in Participants With Vacuoles, E1-enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome
This study will assess the efficacy and safety of momelotinib in participants with a diagnosis of VEXAS.
- Trial name
- ATLAS (NCT07569081)
- Testing
- Momelotinib, Glucocorticoids
- Volunteers
- 136 people
- Sponsor
- GlaxoSmithKline
Non-Small Cell Lung Cancer
A Study to Evaluate the Efficacy and Safety of Multiple Targeted Therapies as Treatments for Participants With Non-Small Cell Lung Cancer (NSCLC)
This is a phase 2/3, global, multicenter, open-label, multi-cohort study designed to evaluate the safety and efficacy of targeted therapies or immunotherapy as single agents or in combination in participants with unresectable…
- Trial name
- B-FAST (NCT03178552)
- Testing
- Alectinib, Atezolizumab, Pemetrexed
- Where
- 161 sites in United States, Argentina and 25 more
- Volunteers
- 1,000 people
- Sponsor
- Hoffmann-La Roche
Ovarian Neoplasms, Endometrial Neoplasms
DOvEEgene/WISE Genomics: Diagnosing Ovarian and Endometrial Cancer Early Using Genomics
This study aims to develop and validate a test for detecting ovarian and endometrial cancers early. It relies on detecting somatic mutations that are associated with these cancers from a uterine pap test.
- Conditions
- Ovarian Neoplasms, Endometrial Neoplasms, Endometrial Cancer, Ovarian Cancer
- Trial name
- DOvEEgene (NCT02288676)
- Where
- Canada
- Volunteers
- 1,200 people
- Sponsor
- McGill University
Pediatric Central Nervous System Tumor, Central Nervous System Tumor
Somatic Mosaicism in Twins Discordant for Childhood Cancer
Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date.
- Conditions
- Pediatric Central Nervous System Tumor, Central Nervous System Tumor, Discordant Twin, Somatic Mutation
- Trial name
- NCT06054295
- Testing
- Biospecimen collection, Questionnaire Administration
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Children's Oncology Group
Cerebral Arteriovenous Malformations
Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations.
Cerebral arteriovenous malformations (CAVMs) are abnormal vessels located on the surface of the brain or within the cerebral parenchyma, causing abnormal communication between the arterial and venous networks, without the…
- Trial name
- BioMAV2 (NCT07103304)
- Testing
- Search for activating somatic genetic mutations
- Where
- 3 sites in France
- Volunteers
- 16 people
- Sponsor
- University Hospital, Rouen
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
This study will analyze the germline and somatic mutations underlying the development of ADPKD in order to better understand the genetic mechanism responsible for the cystic transformation.
- Trial name
- ADPKD (NCT03901521)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Weill Medical College of Cornell University
Clonal Hematopoiesis of Indeterminate Potential, Clonal Cytopenia of Undetermined Significance
CHIP/CCUS Natural History Protocol
Background: Clonal Hematopoiesis of Indeterminate Potential (CHIP) is a change in a person s DNA that can increase a person s risk of developing blood cancers or cardiovascular disease. CHIP occurs mostly occurs in older people.
- Trial name
- NCT04102423
- Where
- United States
- Volunteers
- 306 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Metastatic Breast Cancer, Invasive Breast Cancer
Olaparib In Metastatic Breast Cancer
This research study is for patients with metastatic breast cancer. Metastatic means that the cancer has spread beyond the breast.
- Conditions
- Metastatic Breast Cancer, Invasive Breast Cancer, Somatic Mutation Breast Cancer (BRCA1), Somatic Mutation Breast Cancer (BRCA2)
- Trial name
- NCT03344965
- Testing
- Olaparib
- Where
- 20 sites in United States
- Volunteers
- 114 people
- Sponsor
- Beth Israel Deaconess Medical Center
Somatic Mutation
SMS - Study of Somatic Mutations Using Genome Sequencing
Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and…
- Trial name
- SMS (NCT06851052)
- Testing
- sample collection, Seeking consent, Sample Collection: Surgical
- Where
- United Kingdom
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
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