Clinical trials: Gene Mutations
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
Healthy, GEN1 Gene Mutation
SREBF1 Polymorphism and Egg Yolk on Cardiovascular Disease Risk in Healthy Young Adults: a Randomised, Two-period, Single Blinded, Crossover Trial
Our previous analysis showed that sterol regulatory element binding protein gene (SREBF1) rs2236513/rs2297508/rs4925119 polymorphism modulated the relation between dietary cholesterol and serum low density lipoprotein cholesterol…
- Trial name
- NCT04975048
- Testing
- Egg yolks, Macronutrients equivalent control
- Where
- China
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Shandong University
Breast Cancer
The Registration Program of BRCA1/2 Gene
Purpose: 1. Screening of large samples is to search the gene mutation of the breast cancer susceptibility gene (BRCA1 and BRCA2) in Chinese high risk group. 2.
- Trial name
- RCA (NCT02593435)
- Testing
- NGS test
- Where
- China
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- Chinese Anti-Cancer Association
Safety Issues, Efficacy, Self
TQB3525 for Advanced Bone Sarcomas With PI3KA Mutations or PTEN Loss
The PI3K, protein kinase B (AKT), and mTOR signaling network promotes cell growth, survival, metabolism, and motility, but becomes a critical oncogenic driver under aberrant conditions that control the tumor microenvironment and…
- Trial name
- TQBSP (NCT04690725)
- Testing
- TQB3525
- Where
- China
- Volunteers
- 29 people
- Sponsor
- Peking University People's Hospital
Frontotemporal Dementia
Phase 1/2 Clinical Trial of LY3884963 in Patients With Frontotemporal Dementia With Progranulin Mutations (FTD-GRN)
Study J4B-MC-OKAA is a Phase 1/2, multi-center, open-label ascending dose, first-in-human study that will evaluate the safety and effect of intra-cisternal LY3884963 administration on progranulin protein (PGRN) levels in patients…
- Trial name
- PROCLAIM (NCT04408625)
- Testing
- LY3884963, Methylprednisolone, Optional Sirolimus
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 35 people
- Sponsor
- Prevail Therapeutics
Parkinson, Parkinson Disease
Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS).
- Conditions
- Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation
- Trial name
- NCT03234478
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Rutgers, The State University of New Jersey
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
- Trial name
- NCT00589225
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 902 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Carcinoma, Non-small Cell Lung Cancer (NSCLC)
Next Generation Sequencing Method for the Detection of EGFR Gene Mutations in the Plasma of Patients With Lung Cancer
The study aims to evaluate the Plasma-SeqSensei™ Solid Cancer IVD Kit NGS diagnostic test (Sysmex) before its introduction into routine diagnostics.
- Trial name
- NCT06595498
- Testing
- Plasma- SeqSensei™ Solid Cancer IVD Kit (Sysmex), cobas® EGFR Mutation Test v2 (Roche)
- Where
- Italy
- Volunteers
- 130 people
- Sponsor
- Istituto Oncologico Veneto IRCCS
Carcinoma, Non-Small Cell Lung
Quaratusugene Ozeplasmid (Reqorsa) and Osimertinib in Patients With Advanced Lung Cancer Who Progressed on Osimertinib
The purpose of this randomized study is to determine the safety and efficacy of quaratusugene ozeplasmid (Reqorsa) added to osimertinib in NSCLC patients with activating EGFR mutations who have progressed while on treatment with…
- Trial name
- Acclaim-1 (NCT04486833)
- Testing
- quaratusugene ozeplasmid, osimertinib, Platinum-Based Chemotherapy
- Where
- 10 sites in United States
- Volunteers
- 158 people
- Sponsor
- Genprex, Inc.
Laminopathy, Lamin A/C Gene Mutation
Subanalysis in Patients With CARDIoLAMinopathy Enrolled to REPORT-CCM Registry
Observational, retrospective registry with acute and chronic endpoints
- Conditions
- Laminopathy, Lamin A/C Gene Mutation, Heart Failure
- Trial name
- CARDILAM-CCM (NCT04904393)
- Testing
- Implant of the device for Cardiac Contractility Modulation (CCM) Therapy
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Monaldi Hospital
HER2-negative Breast Cancer, Gastric Adenocarcinoma
Niraparib Combined With Anlotinib in Homologous Recombination Repair (HRR) Gene-mutated Advanced Solid Tumors
Homologous Recombination Repair (HRR) gene mutations can be detected in many solid tumors, patients with HRR gene mutations may benefit from PARP inhibitor.
- Conditions
- HER2-negative Breast Cancer, Gastric Adenocarcinoma, Cholangiocarcinoma, Pancreatic Cancer
- Trial name
- NCT04764084
- Testing
- Niraparib, Anlotinib
- Where
- China
- Volunteers
- 52 people
- Sponsor
- Peking University Cancer Hospital & Institute
Non Hodgkin Lymphoma, Diffuse Large B Cell Lymphoma
Safety, PK/PD, and Clinical Activity of KT-413 in Adult Patients with Relapsed or Refractory B-cell NHL
This Phase 1a/1b study will evaluate the safety, tolerability and the pharmacokinetics/ pharmacodynamics (PK/ PD) of KT-413 in patients with R/R NHL.
- Conditions
- Non Hodgkin Lymphoma, Diffuse Large B Cell Lymphoma, DLBCL, MYD88 Gene Mutation
- Trial name
- NCT05233033
- Testing
- KT-413
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 7 people
- Sponsor
- Kymera Therapeutics, Inc.
Solid Tumor Malignancy
Efficacy and Safety of Pemigatinib in Previously Treated Locally Advanced/Metastatic or Surgically Unresectable Solid Tumor Malignancies Harboring Activating FGFR Mutations or Translocations (FIGHT-207)
The purpose of this study is to evaluate the efficacy and safety of pemigatinib in participants with previously treated locally advanced/metastatic or surgically unresectable solid tumor malignancies harboring activating FGFR…
- Trial name
- NCT03822117
- Testing
- Pemigatinib
- Where
- 90 sites in United States, Denmark and 9 more
- Volunteers
- 111 people
- Sponsor
- Incyte Corporation
KRAS G12D Mutations, Pancreatic Ductal Adenocarcinoma (PDAC)
To Evaluate the Safety and Efficacy of RNK08954 in Patients With Metastatic Pancreatic Ductal Adenocarcinoma.
This is a multicenter, open-label, phase Ⅱa study to explore the safety, tolerability, and preliminary efficacy of RNK08954 in metastatic pancreatic ductal adenocarcinoma harboring a KRAS G12D mutation.
- Trial name
- NCT07303465
- Testing
- RNK08954
- Where
- 2 sites in China
- Volunteers
- 60 people
- Sponsor
- Ranok Therapeutics (Hangzhou) Co., Ltd.
Carcinoma, Non-small-cell Lung Cancer
Identifying Genomic Mutations of Multiple Primary Lung Cancers by Circulating Tumor DNA
Targeted next generation sequencing (NGS) provides a promising method for diagnostic purposes by enabling the simultaneous detection of multiple gene mutations.
- Conditions
- Carcinoma, Non-small-cell Lung Cancer, Thoracic Neoplasms
- Trial name
- NCT02833467
- Volunteers
- 45 people
- Sponsor
- Peking University People's Hospital
Advanced Solid Tumor, RAF Mutation
Study of DCC-3084 in Participants With Advanced Malignancies Driven by the Mitogen-Activated Protein Kinase (MAPK) Pathway
This is a multicenter clinical trial to evaluate DCC-3084 alone or in combination with other cancer therapies in participants with advanced cancers. Module A will enroll participants with advanced/metastatic solid tumors.
- Conditions
- Advanced Solid Tumor, RAF Mutation, RAS Mutation, NF1 Mutation
- Trial name
- NCT06287463
- Testing
- DCC-3084
- Where
- 9 sites in United States
- Volunteers
- 29 people
- Sponsor
- Deciphera Pharmaceuticals, LLC
Metastatic Colorectal Cancer
Irinotecan and Panitumumab as 3rd Line Treatment for mCRC Without KRAS Mutations
The purpose of this study is to investigate the effect and the side effect profile of irinotecan and panitumumab administered every 3 weeks as 3rd line treatment for patients with metastatic colorectal cancer without KRAS…
- Trial name
- NCT00792363
- Testing
- Irinotecan, Panitumumab
- Where
- Denmark
- Volunteers
- 32 people
- Sponsor
- Vejle Hospital
Recurrent Endometrial Carcinoma, Recurrent Ovarian Carcinoma
Bevacizumab and/or Niraparib in Patients With Recurrent Endometrial and/or Ovarian Cancer With ARID1A Mutation
The purpose of this research study is to test the proportion of tumor response to the combination treatment with niraparib and bevacizumab and see what effects (good and bad) this combination treatment has on patients with…
- Conditions
- Recurrent Endometrial Carcinoma, Recurrent Ovarian Carcinoma, ARID1A Gene Mutation
- Trial name
- NCT05523440
- Testing
- Bevacizumab, Niraparib
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- University of Oklahoma
Estrogen-receptor-positive Breast Cancer, Metastatic Breast Cancer
PhII Randomized CAPecitabine + ELAcestrant vs. Capecitabine Alone in ER+ Breast Cancer (CAPELA)
The goal of this research study is to compare a combination of two drugs, capecitabine and elacestrant to capecitabine alone as a treatment for advanced estrogen receptor-positive (ER+) breast cancer.
- Conditions
- Estrogen-receptor-positive Breast Cancer, Metastatic Breast Cancer, Breast Cancer, Hormone Receptor Positive Breast Cancer
- Trial name
- CAPELA (NCT07222215)
- Testing
- Capecitabine, Elacestrant
- Where
- United States
- Volunteers
- 297 people
- Sponsor
- Kristina A. Fanucci
Non Small Cell Lung Cancer, Advanced Lung Non-Small Cell Carcinoma
Study of Pembrolizumab With Single Agent Chemotherapy in Elderly Patients With Advanced NSCLC
This Phase II trial is to see how well single agent chemotherapy and pembrolizumab work elderly patients (≥ 75 years) with advanced non small cell lung cancer (NSCLC).
- Conditions
- Non Small Cell Lung Cancer, Advanced Lung Non-Small Cell Carcinoma, PD-L1 Gene Mutation
- Trial name
- HFHS 21-01 (NCT04754815)
- Testing
- Pembrolizumab, Pemetrexed, Paclitaxel
- Sponsor
- Shirish Gadgeel
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