Clinical trials: Mutations, active
Prostate Cancer, BRCA Mutation
The IMPACT Study - Identification of Men With a Genetic Predisposition to ProstAte Cancer
The IMPACT study is an international targeted prostate screening study of men at increased prostate cancer risk due to the presence of known pathogenic mutations in BRCA1 and BRCA2 genes and Mis-Match Repair genes (MLH1, MSH6…
- Conditions
- Prostate Cancer, BRCA Mutation, Mismatch Repair Gene Mutation, Genetic Predisposition to Disease
- Trial name
- NCT00261456
- Testing
- PSA test, Prostate Biopsy
- Where
- United Kingdom
- Volunteers
- 3,500 people
- Sponsor
- Institute of Cancer Research, United Kingdom
CDK Gene Mutation, Metastatic Malignant Neoplasm in the Brain
Genetic Testing in Guiding Treatment for Patients With Brain Metastases
This phase II trial studies how well genetic testing works in guiding treatment for patients with solid tumors that have spread to the brain.
- Conditions
- CDK Gene Mutation, Metastatic Malignant Neoplasm in the Brain, Metastatic Malignant Solid Neoplasm, NTRK Family Gene Mutation
- Trial name
- NCT03994796
- Testing
- Abemaciclib, PI3K Inhibitor paxalisib, Entrectinib
- Where
- 435 sites in United States
- Volunteers
- 50 people
- Sponsor
- Alliance for Clinical Trials in Oncology
Non-Small Cell Lung Cancer, NSCLC
First-In-Human Study of STX-721/PFL-721 in Participants With Locally Advanced or Metastatic Non-Small Cell Lung Cancer Harboring EGFR or HER2 Exon 20 Insertion Mutations
Study STX-721-101/PFL-721CI101 is an open label, Phase 1/2 study evaluating the safety, tolerability, pharmacokinetic (PK) exposure, and preliminary antitumor activity of STX-721/PFL-721 in participants with non-small cell lung…
- Conditions
- Non-Small Cell Lung Cancer, NSCLC, EGFR/HER2 Exon 20 Insertion Mutation
- Trial name
- NCT06043817
- Testing
- STX-721/PFL-721 (Escalated), STX-721/PFL-721 (3 dose levels), STX-721/PFL-721 (RP2D)
- Where
- 32 sites in United States, Australia and 6 more
- Volunteers
- 345 people
- Sponsor
- Pierre Fabre Medicament
RAS Mutation, NF1 Mutation
PAS-004 in Patients With Advanced Solid Tumors
The main purpose of this clinical trial is to test PAS-004 in people with advanced solid tumors with rat sarcoma virus (RAS), neurofibromatosis type I (NF1), or rapidly accelerated fibrosarcoma (RAF) mutations.
- Conditions
- RAS Mutation, NF1 Mutation, RAF Mutation, Advanced Solid Tumors
- Trial name
- NCT06299839
- Testing
- PAS-004 Capsules, PAS-004 Tablets
- Where
- 5 sites in United States, Bulgaria and 1 more
- Volunteers
- 83 people
- Sponsor
- Pasithea Therapeutics Corp.
Ovarian Cancer, BRCA Mutation
Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer
The overall goal of the Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer (PROMISE) study is to better understand how women may incorporate both polygenic risk score (PRS) and novel early detection…
- Trial name
- PROMISE (NCT06436248)
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Hyper IgE Syndrome From STAT3 Mutation, Job s Syndrome
Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis
Background: Autosomal dominant hyper-IgE syndrome (HIES), also called Job syndrome, is a genetic disorder that affects the immune system.
- Conditions
- Hyper IgE Syndrome From STAT3 Mutation, Job s Syndrome, HIES, Lupus
- Trial name
- NCT07262983
- Testing
- baricitinib
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Breast Cancer Female, BRCA1 Mutation
Interest of Broadband Spectroscopy Analysis by Infrared Laser on Liquid Biopsies in Breast Cancer Screening
The purpose of this study is to validate the interest of broadband spectroscopy analysis (femto/attosecond by infrared laser) on liquid biopsies in breast cancer screening.
- Conditions
- Breast Cancer Female, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- ICRG0101 (NCT04273542)
- Testing
- liquid biopsy
- Where
- 9 sites in France
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- Centre Jean Perrin
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring.
- Conditions
- Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
- Trial name
- NCT04431024
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
ATTR, ATTR Gene Mutation
PET/CT Imaging in Carriers of TTR Mutations
The purpose of this study is to determine if TTR gene carriers have early signs of a type of heart disease called amyloidosis using a new radiotracer dye (iodine-124 evuzamitide, I-124E).
- Conditions
- ATTR, ATTR Gene Mutation, Cardiomyopathy, Transthyretin Mediated Amyloidosis (ATTR)
- Trial name
- EPIC-TTR (NCT07591038)
- Testing
- Iodine-124 Evuzamitide (I-124E)
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Solid Tumors, KRAS Mutation
A Study to Test Different Doses of BI 1823911 Alone and Combined With Other Medicines in People With Different Types of Advanced Cancer With KRAS Mutation
This study is open to adults with different types of advanced or metastatic cancer (including lung cancer, colorectal cancer, pancreatic cancer, and bile duct cancer).
- Trial name
- NCT04973163
- Testing
- BI 1823911, BI 1701963, Midazolam
- Where
- 9 sites in United States, Belgium and 2 more
- Volunteers
- 30 people
- Sponsor
- Boehringer Ingelheim
Locally Advanced or Metastatic Conventional Chondrosarcoma With an IDH1 Mutation, Untreated or Previously Treated With 1 Systemic Treatment Regimen
Ivosidenib in Participants With Locally Advanced or Metastatic Conventional Chondrosarcoma Untreated or Previously Treated With 1 or 2 Systemic Treatment Regimens
Study CL3-95031-007 (CHONQUER) is a Phase 3, international, multicenter, double-blind, randomized, placebo-controlled study of orally administered ivosidenib.
- Trial name
- CHONQUER (NCT06127407)
- Testing
- Ivosidenib 500mg
- Where
- 115 sites in United States, Australia and 15 more
- Volunteers
- 156 people
- Sponsor
- Servier Bio-Innovation LLC
NF1 Mutation, Neurofibroma Plexiform
PAS-004 in Adults Who Have Neurofibromatosis Type 1 With Plexiform Neurofibromas
The main purpose of this clinical trial is to test PAS-004 in people with at least one symptomatic plexiform neurofibroma due to Neurofibromatosis Type 1 (NF1).
- Conditions
- NF1 Mutation, Neurofibroma Plexiform, Neurofibroma, Plexiform, Neurofibromatosis Type 1 (NF1)-Related Plexiform Neurofibromas (PNs)
- Trial name
- NCT06961565
- Testing
- PAS-004 Tablets, PAS-004 Capsule
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 56 people
- Sponsor
- Pasithea Therapeutics Corp.
Dilated Cardiomyopathy (DCM), BAG3 Mutation Associated Dilated Cardiomyopathy
An AAV Gene Therapy Trial of AFTX-201 in Adults With BAG3-Associated Dilated Cardiomyopathy (DCM)
This is a Phase 1/2, open-label, dose-exploration and dose-expansion, clinical trial evaluating the safety, tolerability, pharmacodynamics, and preliminary efficacy of a single intravenous infusion of AFTX-201 in adults with…
- Trial name
- UPBEAT (NCT07426419)
- Testing
- AFTX-201
- Where
- 5 sites in United States, Canada
- Volunteers
- 22 people
- Sponsor
- Affinia Therapeutics
Locally Advanced or Metastatic Non-small Cell Lung Cancer With Previously Untreated EGFR-sensitive Mutations and ECOG Performance Status Score ≥2
A Clinical Study Comparing the Efficacy and Safety of Befotertinib Versus Icotinib in Patients With Previously Untreated EGFR-sensitive Mutation-positive Non-small Cell Lung Cancer With ECOG Score ≥2
This study is a multicenter, randomized, open-label, parallel-controlled clinical trial. It is designed to evaluate the efficacy and safety of Befotertinib versus Icotinib as first-line treatment in patients with previously…
- Trial name
- BEST2 (NCT07900243)
- Testing
- Befotertinib, Icotinib
- Volunteers
- 100 people
- Sponsor
- Zhou Chengzhi
Inherited Retinal Degeneration Associated With RPGR Mutations, Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
Monitoring and Early Detection of Treatable Inherited RETinal Disease in Children and Adolescents
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium…
- Trial name
- MEDIRET (NCT07901907)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 4,887 people, healthy volunteers welcome
- Sponsor
- University College, London
Low-grade NMIBC, FGFR Gene Amplification
Efficacy and Safety of TYRA-300 in Participants With FGFR3 Altered Low Grade, Intermediate Risk Non-Muscle Invasive Bladder Cancer
Phase 2 Study of TYRA-300 in FGFR3 Altered Low Grade, Intermediate Risk NMIBC
- Conditions
- Low-grade NMIBC, FGFR Gene Amplification, FGFR Gene Alterations, FGFR3 Gene Alteration
- Trial name
- SURF302 (NCT06995677)
- Testing
- TYRA-300 60mg, TYRA-300 50mg, TYRA-300 Dose 70 mg
- Where
- 48 sites in United States, Australia and 2 more
- Volunteers
- 90 people
- Sponsor
- Tyra Biosciences, Inc
EGFR Activating Mutation, Non-Squamous Non-Small Cell Lung Cancer (NSCLC)
ASKC202 Plus Limertinib as the First-line Therapy for Patients With EGFRm+/MET+ Locally Advanced or Metastatic NSCLC
To evaluate the efficacy and safety of ASKC202 combined with limertinib as the first-line treatment for locally advanced or metastatic NSCLC
- Conditions
- EGFR Activating Mutation, Non-Squamous Non-Small Cell Lung Cancer (NSCLC), MET Positive
- Trial name
- NCT07897188
- Testing
- ASKC202, osimertinib, pemetrexed
- Where
- China
- Volunteers
- 425 people
- Sponsor
- Jiangsu Aosaikang Pharmaceutical Co., Ltd.
PDAC, PDAC - Pancreatic Ductal Adenocarcinoma
TNG462-C103: Study to Evaluate the Safety, Tolerability, and Antitumor Activity of Vopimetostat in Combination With ERAS-0015 in PDAC and NSCLC Patients
TNG462-C103 is a Phase 1/2 study to investigate the safety and antitumor activity of vopimetostat (TNG462) combined with ERAS-0015 in patients with MTAP-null pancreatic or MTAP-null non-small cell lung cancer with RAS mutation.
- Conditions
- PDAC, PDAC - Pancreatic Ductal Adenocarcinoma, NSCLC, RAS Mutation
- Trial name
- NCT07897734
- Testing
- vopimetostat, ERAS-0015
- Volunteers
- 188 people
- Sponsor
- Tango Therapeutics, Inc.