Clinical trials: Gene Mutations
ALS (Amyotrophic Lateral Sclerosis)
Extended Study of RAG-17 in the Treatment of Amyotrophic Lateral Sclerosis Patients With SOD1 Gene Mutation
This study primarily evaluates the safety, tolerability, and efficacy of RAG - 17 in adult ALS patients with SOD1 - mutated genes in the real - world setting.
- Trial name
- NCT07077668
- Testing
- A sterile aqueous solution of RAG - 17 preparation (sodium salt)
- Volunteers
- 10 people
- Sponsor
- Beijing Tiantan Hospital
Early T Acute Lymphoblastic Leukemia, T-Acute Lymphoblastic Leukemia
Venetoclax + Azacytidine for Newly Diagnosed ETP-like ALL and T-ALL With Myeloid Mutations
The goal of this clinical trial is to evaluate the efficacy and safety of venetoclax combined with azacitidine in treating newly diagnosed early T-cell precursor (ETP)-like acute lymphoblastic leukemia (ALL), T-ALL with myeloid…
- Conditions
- Early T Acute Lymphoblastic Leukemia, T-Acute Lymphoblastic Leukemia, Mixed Phenotype Acute Leukemia, T/Myeloid, Nos
- Trial name
- NCT07012447
- Testing
- Venetoclax, Azacitidine, Cytarabine
- Where
- China
- Volunteers
- 32 people
- Sponsor
- yuejun Liu
Non-Small Cell Lung Carcinoma, Advanced Non-Small Cell Squamous Lung Cancer
Whole Body HER3 Quantification With Radiolabelled Patritumab Deruxtecan (HER3-DXd) PET/CT
Activity of patritumab deruxtecan (U3-1402; HER3-DXd) has been shown in a phase I/II study in patients with HER3 expressing breast cancer as well as in a phase I study in patients with EGFR TKI refractory EGFR mutation positive…
- Conditions
- Non-Small Cell Lung Carcinoma, Advanced Non-Small Cell Squamous Lung Cancer, EGFR Gene Mutation
- Trial name
- NCT06222489
- Testing
- 89Zr-Patritumab deruxtecan
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- The Netherlands Cancer Institute
Non-Small Cell Lung Cancer, EGFR
Treatment With BIBW 2992, Irreversible Inhibitor of EGFR and HER-2 in Non-small Cell Lung Cancer
Patients with stage IIIB and IV lung adenocarcinoma and progression to first-line chemotherapy were enrolled to receive afatinib 40 mg/day. Mutational EGFR and HER-2 status were assessed by RT-PCR.
- Conditions
- Non-Small Cell Lung Cancer, EGFR, HER-2
- Trial name
- NSCLC (NCT01542437)
- Testing
- BIBW 2992
- Where
- Mexico
- Volunteers
- 66 people
- Sponsor
- Instituto Nacional de Cancerologia de Mexico
Advanced Cancer
Study of Erlotinib in Combination With Dasatinib
The goal of this clinical research study is to find the highest tolerable dose of Tarceva (erlotinib hydrochloride) that can be given in combination with Sprycel (dasatinib).
- Trial name
- NCT00895128
- Testing
- Erlotinib Hydrochloride, Dasatinib
- Where
- United States
- Volunteers
- 65 people
- Sponsor
- M.D. Anderson Cancer Center
Acute Myeloid Leukemia, IDH1 Gene Mutation
Prevalence and Clinical Effect of IDH1/2 Mutations in Patients With Acute Myeloid Leukemia
Among the most notable cancer genome-wide sequencing discoveries in recent years was the finding of mutation hot-spots in the isocitrate dehydrogenase (IDH) genes in grade II/III astrocytomas and oligodendrogliomas and in…
- Conditions
- Acute Myeloid Leukemia, IDH1 Gene Mutation, IDH2 Gene Mutation
- Trial name
- Euro_IDH_AML (NCT04369287)
- Where
- Italy
- Volunteers
- 654 people
- Sponsor
- Istituto Clinico Humanitas
ESR1 Gene Mutation, Breast Cancer (Locally Advanced or Metastatic)
ESR1 Mutations in Metastatic Hormone Receptor-Positive Breast Cancer in the Greek Population
The goal of this observational study is to assess the prevalence of ESR1 mutations in patients with metastatic hormone receptor-positive/HER2-negative breast cancer in Greece and evaluate the associations of these mutations with…
- Conditions
- ESR1 Gene Mutation, Breast Cancer (Locally Advanced or Metastatic), Hormon Receptor Positive Breast Cancer
- Trial name
- ΗΕ 11ESR1/24 (NCT07899463)
- Where
- Greece
- Volunteers
- 500 people
- Sponsor
- Hellenic Cooperative Oncology Group
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
Breast Cancer, Pancreatic Cancer
Clinical Outcomes in Hereditary Cancer
Compare the clinical characteristics and post-surgical outcomes (overall survival)of pancreatic cancer patients of Ashkenazi descent with or without germline founder mutations in BRCA1 or BRCA2 .
- Trial name
- NCT00580021
- Testing
- Genotyping
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
Hepatic Vein Thromboses, Hepatic Venous Outflow Obstruction
Global Coagulation Assessment in Portal Vein Thrombosis and Budd-Chiari Syndrome
Portal vein thrombosis is defined as partial or complete occlusion of the portal vein lumen by the blood clot or its replacement by multiple collateral vessels with the hepato-petal flow, known as 'portal cavernoma'.
- Conditions
- Hepatic Vein Thromboses, Hepatic Venous Outflow Obstruction, Portal Vein Thrombosis, Portal Hypertension, Noncirrhotic
- Trial name
- Liv-Thrombus (NCT05123326)
- Testing
- Rotational thromboelastometry, Genetic tests for Thrombophilia, ELISA tests/ Functional assays
- Where
- India
- Volunteers
- 300 people
- Sponsor
- Post Graduate Institute of Medical Education and Research, Chandigarh
Myelodysplastic Syndromes, P53 Mutation
Decitabine and Arsenic Trioxide for Myelodysplastic Syndrome(MDS)
This is a prospective,controlled and multi-institution trial.The aim is to identify if using decitabine and Arsenic Trioxide(ATO) as the therapy of Myelodysplastic Syndrome(MDS) has better relapse free survival and complete…
- Trial name
- NCT03377725
- Testing
- Decitabine, Arsenic Trioxide
- Where
- 3 sites in China
- Sponsor
- Li Junmin
HCC - Hepatocellular Carcinoma, TP53 Gene Mutation
A Clinical Trial of Firsekibart, Tislelizumab, and Lenvatinib in Patients With Unresectable, TP53-Mutated Hepatocellular Carcinoma
This study aims to evaluate the effectiveness and safety of a combination therapy with Fuxinqibai monoclonal antibody, Tislelizumab, and Lenvatinib in patients with advanced, unresectable TP53-mutated hepatocellular carcinoma…
- Conditions
- HCC - Hepatocellular Carcinoma, TP53 Gene Mutation, Unresectable, Resistant Cancer
- Trial name
- NCT07535840
- Testing
- Firsekibart + Tislelizumab + Lenvatinib
- Volunteers
- 25 people
- Sponsor
- Tongji Hospital
Metastatic Breast Cancer in Germline-PALB2 Mutations Carriers
PARP-inhibitor on Advanced Metastatic Breast Cancer in Germline PALB2 Mutations Carriers
The study aims at exploring the potential benefit of a PARP-inhibitor, Niraparib, in metastatic breast cancer developing in germline-PALB2 mutations carriers.
- Trial name
- PALB2-PARPi-01 (NCT05232006)
- Testing
- Niraparib
- Volunteers
- 12 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
DLBCL, MYD88 Gene Mutation
Ibrutinib Combined With Rituximab for Treatment of Relapsed Refractory MYD88 and CD79A/B (or CD79B Alone) DLBCL Who Have Received at Least Two Prior Therapies
The purpose of this study is to evaluate the efficacy and safety of Ibrutinib Combined With Rituximab in Relapsed Refractory MYD88 and CD79A/B (or CD79B Alone) DLBCL Who Have Received at Least Two Prior Therapies.
- Conditions
- DLBCL, MYD88 Gene Mutation, CD79A Gene Mutation, CD79B Gene Mutation
- Trial name
- NCT04994626
- Testing
- Ibrutinib Combined With Rituximab
- Volunteers
- 20 people
- Sponsor
- Chinese Academy of Medical Sciences
SLE (Systemic Lupus)
Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onest Systemic Lupus Erythematosus
Aim and objectives of this study To summarize the main clinical characteristics of patients with jSLE admitted and followed up in Assiut University children's Hospital.
- Trial name
- NCT04645225
- Testing
- . MEFV genetic testing
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Assiut University
Dystonia, Parkinsonism
Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
The purposes of this study are to identify persons with rapid-onset dystonia-parkinsonism (RDP) or mutations of the RDP gene, document prevalence of the disease, and map its natural history.
- Trial name
- NCT00682513
- Where
- 2 sites in United States
- Volunteers
- 198 people
- Sponsor
- State University of New York at Buffalo
Furmonertinib, EGFR-mutation
Furmonertinib in EGFR-Mutant NSCLC With Brain Metastases (iFORCE)
This study is a single-arm, open-label, prospective phase II trial. The aim of this phase II study is to evaluate the efficacy and safety of Furmonertinib in patients with EGFR mutation (including 19del or 21L858R or T790M) in…
- Conditions
- Furmonertinib, EGFR-mutation, NSCLC, Brain Metastases
- Trial name
- NCT05465343
- Testing
- Furmonertinib 160 mg, Q.D.
- Where
- China
- Volunteers
- 24 people
- Sponsor
- Peking Union Medical College
Breast Cancer
Homologous Recombination Repair Pathway Gene Mutation Spectrum in Chinese Breast Cancer Patients
The goal of this clinical trial is to learn about the mutation spectrum of homologous recombination repair pathway genes and its instructive significance in the treatment of Chinese breast cancer patients.
- Trial name
- NCT05901025
- Volunteers
- 5,000 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Lung Cancer
NGS Genome Analysis in Personalisation of Lung Cancer Treatment
The identification of driver mutations in the epidermal growth factor receptor (EGFR) as the primary oncogenic event in a subset of lung adenocarcinomas led to a model of targeted treatment and genetic profiling of the disease.
- Trial name
- ALCAPONE (NCT02281214)
- Testing
- blood sample, biopsy
- Where
- France
- Volunteers
- 165 people
- Sponsor
- Centre Georges Francois Leclerc
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