Clinical trials: Genetic Mutation
NSCLC
A Phase 3 Study of Sosimerasib in Combination With IN10018 Versus Standard Therapy for First Line Non-squamous Non-small Cell Lung Cancer With KRAS G12C Mutation
This is a randomized, positive controlled, open-Label and multicenter phase III study, to evaluate the efficacy and safety of Sosimerasib in combination with IN10018 versus anti-PD-1 monoclonal antibody in combination with…
- Trial name
- NCT07833202
- Testing
- Sosimerasib in combination with IN10018, Tislelizumab + Carboplatin + Pemetrexed
- Where
- China
- Volunteers
- 416 people
- Sponsor
- Shanghai Jeyou Pharmaceutical Co., Ltd.
Neoplasms, Nerve Tissue, Neurofibromatosis 1
Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST)
Background: Gastrointestinal stromal tumors (GIST) can cause serious medical problems. The only known treatment is surgery. But completely removing a GIST tumor with surgery is often not possible.
- Conditions
- Neoplasms, Nerve Tissue, Neurofibromatosis 1, Heredodegenerative Disorders, Nervous System, Peripheral Nervous System Diseases
- Trial name
- NCT03109301
- Testing
- Selumetinib (AZD6244 hyd sulfate) 50mg/dose, Selumetinib (AZD6244 hyd sulfate) 25mg/m2
- Sponsor
- National Cancer Institute (NCI)
Common Variable Immunodeficiency (CVID), APDS / PASLI
Study of Efficacy of CDZ173 in Patients With APDS/PASLI
This study was designed to explore CDZ173, a selective PI3Kδ inhibitor, in patients with genetically activated PI3Kδ, i.e., patients with Activated phosphoinositide 3-kinase delta syndrome/ p110δ-activating mutation causing…
- Trial name
- NCT02435173
- Testing
- CDZ173
- Where
- 10 sites in United States, Belarus and 7 more
- Volunteers
- 37 people
- Sponsor
- Novartis Pharmaceuticals
Cancer, Cancer Metastatic
A Basket Trial of an ERK1/2 Inhibitor (LY3214996) in Combination With Abemaciclib.
The purpose of CTO-IUSCC-0730 study is to assess the clinical efficacy of LY3214996 in combination with abemaciclib at the recommended phase 2 dose of LY3214996 200 mg orally daily and abemaciclib 150 mg orally twice daily.
- Conditions
- Cancer, Cancer Metastatic, BRAF V600E, MEK1 Gene Mutation
- Trial name
- NCT04534283
- Testing
- Abemaciclib, LY3214996
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Anita Turk
Breast Cancer, BRCA1 Mutation
Endocrine Disruptors and Life STILe in Breast Cancer Development
The aim of the study is to evaluate the role of lifestyle and environmental factors ( environmental contaminants such as Cd) on the penetrance of BRCA1/2 genes in BRCAm patients with Breast cancer and/or Ovarian cancer and in…
- Conditions
- Breast Cancer, BRCA1 Mutation, BRCA2 Mutation, Ovarian Cancer
- Trial name
- STILVARCA (NCT05748353)
- Where
- Italy
- Volunteers
- 275 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Melanoma Metastatic, BRAF V600 Mutation
To Evaluate the Efficacy Beyond Progression of Vemurafenib+Cobimetinib Associated With Local Treatment Compared to Second-line Treatment in Patients With BRAFV600+ Metastatic Melanoma in Focal Progression With First-line+Vemurafenib+Cobimetinib.
The purpose of this study is to evaluate the efficacy beyond progression of vemurafenib combined with cobimetinib associated with local treatment compared to second-line treatment in patients with BRAFV600 mutation-positive…
- Trial name
- NCT03514901
- Testing
- Experimental combination beyond Focal Progression, Pembrolizumab or Nivolumab
- Where
- 14 sites in Italy
- Volunteers
- 120 people
- Sponsor
- Intergruppo Melanoma Italiano
Genetic Disease, Nonsense Mutation
Phase 1 Study of ELX-02 in Healthy Adults
Phase 1 Single Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03292302
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Amyloid Neuropathies, Familial
Early and Systematic Screening in Chronic Neuropathy
TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore…
- Trial name
- TTR-FAP (NCT03720275)
- Testing
- Systematic screening of TTR mutations
- Where
- France
- Volunteers
- 130 people
- Sponsor
- University Hospital, Bordeaux
Primary Aldosteronism
Pathological Type，Gene Mutation and Clinical Characteristics of Unilateral Primary Aldosteronism
1. Aim to investigate the pathological feature of UPA in Asians 2. To clarify the relationship between pathology, clinical phenotype, genetic mutation and surgical outcome of UPA in Asians. 3.
- Trial name
- NCT06597630
- Testing
- Tissue specimens were stained by histopathology of hematoxylin-eosin
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Qifu Li
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Lung Cancer
Osimertinib Plus Bevacizumab in Untreated EGFR Exon21 L858R Mutated NSCLC
This is a prospective, multicenter, randomized, open label study to investigate the efficacy and safety of osimertinib plus bevacizumab versus osimertinib montherapy in treatment-naïve recurrent or metastatic NSCLC patients…
- Trial name
- NCT04988607
- Testing
- Osimertinib, Bevacizumab
- Where
- China
- Volunteers
- 90 people
- Sponsor
- Guangdong Association of Clinical Trials
Cystic Fibrosis
A Study to Evaluate the Efficacy and Safety of Lumacaftor in Combination With Ivacaftor in Subjects With CF, Homozygous for the F508del-CFTR Mutation
To evaluate the efficacy and safety of lumacaftor in combination with ivacaftor in subjects aged 6 Through 11 years with cystic fibrosis (CF), homozygous for the F508del CF transmembrane conductance regulator (CFTR) mutation
- Trial name
- NCT02514473
- Testing
- VX-809, VX-770
- Where
- 53 sites in United States, Australia and 7 more
- Volunteers
- 206 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Glioblastoma
CM93 Treatment in Subjects With Epidermal Growth Factor Receptor (EGFR)-Modified Recurrent Glioblastoma (rGBM)
This is a first-in-human study of CM93, an oral investigational drug, in adults with Epidermal Growth Factor Receptor-modified glioblastoma.
- Trial name
- NCT04933422
- Testing
- CM93
- Volunteers
- 72 people
- Sponsor
- Crimson Biopharm Inc.
NSCLC
An Open Label Study of BIBW 2992/Afatinib in Advanced Non-Small Cell Lung Cancer Patients Pre-treated With Erlotinib or Gefitinib
Advanced lung cancer (non-small cell lung cancer) with a mutation in the EGFR (epidermal growth factor receptor) gene, which have disease progression after treatment with an EGFR inhibitor (erlotinib or gefitinib), and have…
- Trial name
- NCT01932229
- Testing
- Afatinib treatment
- Where
- Israel
- Volunteers
- 20 people
- Sponsor
- Sheba Medical Center
Colorectal Cancer Metastatic, Circulating Tumor DNA
OPTImal PALliative Anti-epidermal Growth Factor Receptor Treatment in Metastatic Colorectal Cancer -
The present study will investigate the feasibility and clinical value of using circulating tumor DNA as selection for anti-epidermal growth factor receptor treatment for metastatic colorectal cancer.
- Conditions
- Colorectal Cancer Metastatic, Circulating Tumor DNA, KRAS Gene Mutation, NRAS Gene Mutation
- Trial name
- OPTIPAL-II (NCT03750175)
- Testing
- Plasma circulating DNA analysis
- Where
- Denmark
- Volunteers
- 49 people
- Sponsor
- Karen-Lise Garm Spindler
Ovarian Cancer, TNBC, SCLC, Other Solid Tumours
Safety, Tolerance, PK, and Anti-tumour Activity of AZD1775 Monotherapy in Patients With Advanced Solid Tumours
This is an open-label, multi-centre, Phase Ib study of AZD1775 designed to assess the safety, tolerability, pharmacokinetics, and anti-tumour activity of AZD1775 monotherapy in patients with advanced solid tumours.
- Trial name
- NCT02482311
- Testing
- AZD 1775
- Where
- 16 sites in United States, Canada
- Volunteers
- 92 people
- Sponsor
- AstraZeneca
Glioma
Construction and Application of an IDH Mutation-Targeted PET/MRI Imaging Framework for Precision Diagnosis of Gliomas
Glioma is the most common primary intracranial tumor in adults, with high-grade gliomas accounting for more than 50% of all gliomas and having the highest mortality rate.
- Trial name
- NCT07405372
- Testing
- Targeted IDH PET/MRI
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Daping Hospital and the Research Institute of Surgery of the Third Military Medical University
NF1, Neurofibromatosis
Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
This study, "A Phase II Study of Cabozantinib (XL l84) for Plexiform Neurofibromas in Subjects with Neurofibromatosis Type I in Children and Adults diagnosed with Neurofibromatosis Type 1 (NF1) and have a type of tumor called a…
- Conditions
- NF1, Neurofibromatosis, Plexiform Neurofibromas
- Trial name
- NF105-CABO (NCT02101736)
- Testing
- Cabozantinib
- Where
- 12 sites in United States
- Volunteers
- 45 people
- Sponsor
- University of Alabama at Birmingham
MDM2/MDMX Gene Mutation, Nuclear Medicine
First Human Trial of Targeting MDM2/MDMX PET Imaging
Investigation of the Radiotracer Uptake of [68Ga] MDM2/MDMX Peptide at Lesion Sites in Patients with Malignant Tumors, and Evaluation of the Capability of [68Ga] MDM2/MDMX Peptide to Detect Overexpression of MDM2/MDMX in Tumor…
- Conditions
- MDM2/MDMX Gene Mutation, Nuclear Medicine, Positron Emission Tomography Imaing
- Trial name
- NCT06443762
- Testing
- [68Ga] MDM2/MDMX Peptide
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Peking University Cancer Hospital & Institute
Non-small Cell Lung Cancer
Anlotinib Plus Docetaxel for the Treatment of EGFR/ALK/ROS1 Mutation-negative Advanced Nonsquamous NSCLC
Anlotinib is a multi-target receptor tyrosine kinase inhibitor in domestic research and development. It can inhibit the angiogenesis related kinase, such as VEGFR, FGFR, PDGFR, and tumor cell proliferation related kinase -c-Kit…
- Trial name
- NCT03654027
- Testing
- Anlotinib Plus Docetaxel, Docetaxel
- Volunteers
- 84 people
- Sponsor
- First Affiliated Hospital of Guangxi Medical University
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