Clinical trials: Somatic Mutation, open to volunteers
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
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
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)
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.
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
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
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
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
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
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
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
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
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
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
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
VEXAS Syndrome
A 52-Week Study Evaluating the Efficacy and Safety of Arumakimig (MAS825) in Participants With VEXAS Followed by Open-Label Extension (OLE) Period
The purpose of this study is to evaluate clinical efficacy and safety of arumakimig (MAS825) compared to placebo in patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome.
- Trial name
- NCT07748624
- Testing
- Arumakimig, Oral glucocorticoids
- Where
- 4 sites in Japan
- Volunteers
- 120 people
- Sponsor
- Novartis Pharmaceuticals
Endometrial Cancer, Endometrial Cancer Precursors
The DETECT Study: Discovery and Evaluation of Testing for Endometrial and Ovarian Cancer in Tampons
BACKGROUND: Endometrial cancer is a common and deadly cancer for women. It is getting more common and deadly because risk factors like age and obesity are increasing.
- Conditions
- Endometrial Cancer, Endometrial Cancer Precursors, Ovarian Cancer, Complex Atypical Endometrial Hyperplasia
- Trial name
- DETECT (NCT03538665)
- Where
- United States
- Volunteers
- 1,700 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
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
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
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