Clinical trials: Somatic Mutation
Metastatic Pancreatic Ductal Adenocarcinoma, Stage IV Pancreatic Cancer AJCC v8
Niraparib and Dostarlimab for the Treatment of Germline or Somatic BRCA1/2 and PALB2 Mutated Metastatic Pancreatic Cancer
This phase II trial studies how well niraparib and dostarlimab work in treating patients with germline or somatic BRCA1/2 and PALB2 mutated pancreatic cancer that has spread to other places in the body (metastatic).
- Trial name
- NCT04493060
- Testing
- Dostarlimab, Niraparib
- Where
- 3 sites in United States
- Volunteers
- 22 people
- Sponsor
- Mayo Clinic
Upper Tract Urothelial Carcinoma
Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for Upper Tract Urothelial Carcinoma Detection
Clinical trial to determine the efficacy (sensitivity and specificity) of Anchordx's urine DNA methylation/somatic mutation assay for detecting upper tract urothelial carcinoma compared to pathology in patients.
- Trial name
- NCT04948528
- Testing
- Active Comparator: Surgery Pathology or Cystoscopy, Active Comparator: Clinical Diagnosis
- Where
- China
- Volunteers
- 490 people
- Sponsor
- AnchorDx Medical Co., Ltd.
Hirschsprung Disease
Genetic Mosaicism in Hirschsprung's Disease
Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon.
- Trial name
- NCT01927809
- Where
- 2 sites in Netherlands
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Erasmus Medical Center
Glioblastoma Multiforme, Brain Tumor, Adult: Glioblastoma
Multimodality MRI and Liquid Biopsy in GBM
Patients with a new diagnosis of high-grade glioma based on MRI, who are considered surgical candidates determined by neurosurgeons or patients with recurrent glioblastoma with the initial diagnosis of glioblastoma (histologic or…
- Conditions
- Glioblastoma Multiforme, Brain Tumor, Adult: Glioblastoma, Brain Tumor, Recurrent, Brain Tumor, Primary
- Trial name
- NCT04776980
- Testing
- Post Feraheme Infusion MRI
- Where
- United States
- Sponsor
- Abramson Cancer Center at Penn Medicine
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
Pancreatic Cancer, Pancreatic Ductal Adenocarcinoma
A Study of Rucaparib in Patients With Pancreatic Cancer and a Known Deleterious BRCA Mutation
The purpose of this study is to determine whether oral rucaparib is effective in the treatment of patients with locally advanced or metastatic pancreatic cancer and a known deleterious BRCA mutation.
- Trial name
- NCT02042378
- Testing
- Rucaparib
- Where
- 8 sites in United States, Israel
- Volunteers
- 19 people
- Sponsor
- pharmaand GmbH
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
Lung Cancer
Responses to Chemotherapy of Patients With Non-small Cell Lung Cancer Harboring a Known Somatic Activating HER2 Mutation
This chart review describe the response to systemic chemotherapy of patients with non-small cell lung cancer (NSCLC) harbouring a known somatic activating human epidermal growth factor receptor 2 (HER2) mutation.
- Trial name
- NCT02827357
- Testing
- No specific intervention
- Volunteers
- 101 people
- Sponsor
- University Hospital, Toulouse
Hereditary Diffuse Gastric Cancer
Liquid Biopsies for the Personalized Management of Patients with Hereditary Diffuse Gastric Cancer
Activating somatic mutations and methylation profiles identified by liquid biopsies could identify CDH1 and CTNNA1 pathogenic variants carriers with invasive diffuse gastric cancer undetectable by upper G-I endoscopy.
- Trial name
- LISA-HDGC (NCT04253106)
- Testing
- Liquid biopsies (blood, gastric fluid).
- Where
- France
- Volunteers
- 16 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Somatic Mutation
Exploring the Landscape of Somatic Mutations in Human Tissue
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such…
- Trial name
- NCT06585800
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Urothelial Carcinoma, Bladder Cancer
Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for the Detection of Urothelial Carcinoma
Clinical trial to evaluate the performance characteristics(sensitivity and specificity) of AnchorDx's urine DNA methylation/somatic mutation profiling assay for detecting urothelial carcinoma compared to pathology in patients.
- Trial name
- NCT04314245
- Testing
- Active Comparator: Pathology, Active Comparator: Clinical Diagnosis, Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay
- Where
- China
- Volunteers
- 1,170 people, healthy volunteers welcome
- Sponsor
- AnchorDx Medical Co., Ltd.
Solid Tumor, Solid Tumor, Adult
UCSF Biobank for Hereditary Cancers and Tumor-Associated Mutations
This is a non-therapeutic clinical research biorepository protocol designed to obtain, store, and clinically annotate biospecimens from participants with hereditary cancers.
- Conditions
- Solid Tumor, Solid Tumor, Adult, Somatic Mutation, Solid Tumor, Unspecified, Adult
- Trial name
- NCT06895681
- Testing
- Blood Sample, Tissue Sample, Excess fluid Sample
- Sponsor
- University of California, San Francisco
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
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
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
Characterization & Comparison of Drugable Mutations in Primary and Metastatic Tumors, CTCs and cfDNA in MBCpatients
Characterization of the driver mutations in an individual metastatic breast cancer patient is critical for many reasons. Effective targeted therapies require identifying genomic alterations in the tumoral tissue.
- Trial name
- MIRROR (NCT02626039)
- Where
- Spain
- Volunteers
- 40 people
- Sponsor
- Hospital General Universitario Gregorio Marañon
Chronic Liver Disease, Somatic Mutation
Somatic Mutation in Chronic Liver Disease
Deaths from chronic liver disease are rising in the UK and around the world. The leading causes are alcohol-related liver disease, metabolic-dysfunction associated steatotic liver disease (MASLD, formerly known as 'non-alcoholic…
- Trial name
- NCT06656767
- Testing
- No intervention
- Where
- United Kingdom
- Volunteers
- 250 people
- 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
Metastatic Castration Resistant Prostate Cancer
SC10914 Monotherapy for the mCRPC With g/s BRCA Mutation
This study is a multicenter, single arm phase I / II clinical study in mCRPC subjects who failed to receive docetaxel chemotherapy, abitolone acetate and / or enzalutamide (including its analogues) for the treatment of BRCA…
- Trial name
- mCRPC (NCT04486937)
- Testing
- S410914 tablet
- Volunteers
- 90 people
- Sponsor
- Jiangxi Qingfeng Pharmaceutical Co. Ltd.
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