Clinical trials: Somatic Mutation
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
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
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
Hematologic Malignancy, Acute Leukemia
MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies
This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (TCR α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies.
- Conditions
- Hematologic Malignancy, Acute Leukemia, Remission, Acute Myeloid Leukemia
- Trial name
- NCT05735717
- Testing
- Fludarabine, Busulfan, Melphalan
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Somatic Mutation, Ocular Melanoma
iSITE: Investigation of Somatic Alterations in Tumours of the Eye
Modern DNA sequencing technologies enable researchers to identify mutations that have been acquired during the lifetime of patients (somatic mutations).
- Trial name
- iSITE (NCT06861647)
- Testing
- sample collection, Discussing study/seeking consent, Completion of Study Questionnaire
- Where
- United Kingdom
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
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
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
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
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
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
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
Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations
Basket Study of Neratinib in Participants With Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations
This is an open-label, multicenter, multinational, Phase 2 basket study exploring the efficacy and safety of neratinib as monotherapy or in combination with other therapies in participants with HER (EGFR, HER2) mutation-positive…
- Trial name
- SUMMIT (NCT01953926)
- Testing
- Neratinib, Fulvestrant, Trastuzumab
- Where
- 60 sites in United States, Australia and 11 more
- Volunteers
- 582 people
- Sponsor
- Puma Biotechnology, Inc.
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
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
HER2-ve Metastatic Breast Cancer, Germline BRCA1/2 Mutations
To Study Clinical Effectiveness and Safety of Olaparib Monotherapy in Metastatic Breast Cancer Patients.
This open-label, multi-centre phase IIIb study will assess the effectiveness, benefits and potential harms in the use of olaparib monotherapy treatment for patients with HER2-ve metastatic breast cancer associated with germline…
- Conditions
- HER2-ve Metastatic Breast Cancer, Germline BRCA1/2 Mutations, Somatic BRCA1/2 Mutations
- Trial name
- NCT03286842
- Testing
- Olaparib
- Where
- 123 sites in United States, Bulgaria and 13 more
- Volunteers
- 256 people
- Sponsor
- AstraZeneca
Desmoid, Desmoid Fibromatosis of Skin
Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis
In this study Drug-eluting microbeads (DEB) loaded with Doxorubicin will be delivered into the target Desmoid Fibromatoses (DF) tissue via selective arterial embolization by angiographic technique.
- Conditions
- Desmoid, Desmoid Fibromatosis of Skin, Desmoid Neoplasm of Chest Wall, Desmoid Tumor Caused by Somatic Mutation
- Trial name
- NCT03966742
- Testing
- Drug Eluting Bead Embolization (DEB) for Desmoid Fibromatosis
- Where
- Israel
- Volunteers
- 8 people
- Sponsor
- Rabin Medical Center
Cancer Gene Mutation, Lynch Syndrome
Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation
The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer…
- Conditions
- Cancer Gene Mutation, Lynch Syndrome, Endometrial Cancer, Somatic Mutation
- Trial name
- NCT04516083
- Testing
- Mismatch repair instability somatic and germline testing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- RWJ Barnabas Health at Jersey City Medical Center
Non-small-cell Lung Cancer With Somatic EGFR Mutations
Biomarker Study Accompanying the AIO-TRK-0114 Study (MARBLE)
To compare the efficacy of afatinib maintenance with pemetrexed maintenance following induction therapy with platinum/ pemetrexed in patients with metastatic EGFR mutated non-small-cell lung cancer progressing after first-line…
- Trial name
- Trans-MARBLE (NCT02595840)
- Testing
- Afatinib, Pemetrexed
- Volunteers
- 4 people
- Sponsor
- Universität Duisburg-Essen