Clinical trials: Somatic Mutation, active
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
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
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
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
Somatic Mutation, Cancer
SMS 2: Impact of Cancer Therapy on the Somatic Mutational Landscape of Normal Tissues
Recently technology has been developed at the Wellcome Sanger Institute to allow clusters of cells with mutations to be detected in normal and diseased tissues.
- Trial name
- SMS2 (NCT06832150)
- Testing
- sample collection, Discussing study, Seeking consent
- Where
- United Kingdom
- Volunteers
- 60 people
- Sponsor
- The Wellcome Sanger Institute
Colorectal Carcinoma
Role of Diet on the Microbiome of the Digestive System
This study is to learn more about how diet affects the microbiome (bacteria and microorganisms) of the digestive system. Researchers want to learn if this, in turn, has an effect on if and how people then develop colorectal…
- Trial name
- NCT04666727
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- M.D. Anderson Cancer Center
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.
Somatic Mutation
Linking Somatic Mutation Rate With Baseline Exposure in East Palestine
The goal of this study is to This research team is conducting this study to develop methods to measure the biological impact of exposure to the chemicals released following the February 3, 2023 train derailment on residents of…
- Trial name
- NCT06357845
- Testing
- Survey, Biological specimen collection, Communications about study updates and future research opportunities
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Case Comprehensive Cancer Center
Advanced Malignant Neoplasm, ATM Gene Mutation
Talazoparib in Treating Patients With Recurrent, Refractory, Advanced, or Metastatic Cancers and Alterations in the BRCA Genes
This phase II trial studies how well talazoparib works in treating patients with cancers that have returned after a period of improvement, do not respond to treatment, or have spread to other parts of the body, and have…
- Conditions
- Advanced Malignant Neoplasm, ATM Gene Mutation, BRCA1 Gene Mutation, BRCA2 Gene Mutation
- Trial name
- NCT02286687
- Testing
- Laboratory Biomarker Analysis, Pharmacological Study, Talazoparib
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- M.D. Anderson Cancer Center
Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
Backtracking Leukemia-Typical Somatic Mutations in Cord Blood
A comprehensive mechanistic and epidemiological study to obtain banked cord blood samples from consecutive childhood leukemia patients enrolled in the COG Project:EveryChild (APEC14B1) study.
- Trial name
- NCT05014165
- Testing
- Cord blood Sample Collection, Case identification and recruitment, Questionnaire Administration
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Children's Oncology Group
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
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
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
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
Colo-rectal Cancer, Polygenic Risk Score
Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project
Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer
- Conditions
- Colo-rectal Cancer, Polygenic Risk Score, Somatic Mutation, Hereditary Cancer
- Trial name
- ORIGEM (NCT06917794)
- Where
- 9 sites in Brazil
- Volunteers
- 500 people
- Sponsor
- D'Or Institute for Research and Education
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
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
Clonal Hematopoiesis, Clonal Hematopoiesis of Indeterminate Potential
CHIP in Health and Disease
Clonal hematopoiesis (CH), including clonal hematopoiesis of indeterminate potential (CHIP), is an age-associated condition characterized by the expansion of hematopoietic stem and progenitor cell clones carrying acquired somatic…
- Conditions
- Clonal Hematopoiesis, Clonal Hematopoiesis of Indeterminate Potential, Clonal Cytopenia of Undetermined Significance (CCUS), Myelodysplastic Syndrome
- Trial name
- CHIP2 (NCT07780552)
- Where
- Austria
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- VASCage GmbH
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
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