Clinical trials: Gene Mutations
EGFR Mutation Positive Non-small Cell Lung Cancer
Evaluation of EGFR TKI Resistance Mechanism Using Plasma DNA Analysis
To detect resistance gene from serially collected plasma DNA in non-small cell lung cancer harbouring EGFR activating mutation who are being treated with EGFR TKIs by using castPCR method.
- Trial name
- NCT01776684
- Testing
- EGFR TKIs (gefitinib, erlotinib, afatinib, et al)
- Where
- South Korea
- Volunteers
- 200 people
- Sponsor
- Samsung Medical Center
Advanced NSCLC
AST2818 in Advanced Non-Small Cell Lung Cancer With EGFR Mutations
This study is conducted to assess the safety, tolerability and preliminary efficacy of AST2818 in patients with advanced Non Small Cell Lung Cancer (NSCLC).
- Trial name
- NCT03127449
- Testing
- Alflutinib
- Where
- China
- Volunteers
- 116 people
- Sponsor
- Allist Pharmaceuticals, Inc.
Mitochondrial Diseases, Diagnosis
Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
Mitochondrial diseases are a heterogeneous group caused by genetic defects in mitochondrial DNA or in nuclear genes. POLG is the most frequently involved gene in mtDNA instability diseases resulting in mtDNA multiple deletion…
- Conditions
- Mitochondrial Diseases, Diagnosis, DNA Mutations
- Trial name
- NCT00831948
- Testing
- mitochondrial DNA mutations diagnosis
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Familial Hypercholesterolemia
Genetic Causes of Hypercholesterolaemia in the Emirati Population
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease.
- Trial name
- NCT03597958
- Testing
- Next generation sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 1,000 people
- Sponsor
- Imperial College London Diabetes Centre
Beta-Thalassemia
The Prevelence of IVS 1-6 (T-C) [HBB:c.92 +6 T-C] Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals
1. - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) mutation. 2. - To detect the prevelence of the mutation among Assiut University Hospital patients. 3.
- Trial name
- NCT05370677
- Testing
- ARMS
- Volunteers
- 141 people
- Sponsor
- Assiut University
Solid Tumors, Ovarian
First-in-Human, Multicenter, Phase I Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Preliminary Antitumor Activity of YL-18319 Monotherapy in Patients With Locally Advanced/Metastatic Solid Tumors
First-in-Human, multicenter, phase I study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary antitumor activity of YL-18319 monotherapy treatment in patients with advanced solid tumors who…
- Trial name
- NCT07903207
- Testing
- YL-18319
- Volunteers
- 45 people
- Sponsor
- Shanghai YingLi Pharmaceutical Co. Ltd.
Adult Solid Neoplasm, Bladder Carcinoma
Vaccine Therapy and Pembrolizumab in Treating Patients With Solid Tumors That Have Failed Prior Therapy
This phase I trial studies the side effects of vaccine therapy and pembrolizumab in treating patients with solid tumors that have spread to other places in the body and usually cannot be cured or controlled with treatment, that…
- Conditions
- Adult Solid Neoplasm, Bladder Carcinoma, Colon Carcinoma, Estrogen Receptor Negative
- Trial name
- NCT02432963
- Testing
- Laboratory Biomarker Analysis, Modified Vaccinia Virus Ankara Vaccine Expressing p53, Pembrolizumab
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- City of Hope Medical Center
Solid Tumor, Lymphoma
Precision Medicine for Patients With Identified Actionable Mutations
The goal of the current pragmatic trial is to evaluate the impact of a simple method of selecting a treatment approach for identified mutations on participants' progression free survival (PFS).
- Conditions
- Solid Tumor, Lymphoma, Multiple Myeloma, Malignant Neoplasm
- Trial name
- NCT04111107
- Testing
- Investigational Agent, Supportive Care Regimens, Next Gen Sequencing Report
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Wake Forest University Health Sciences
Small Lymphocytic Leukemia (SLL), Chronic Lymphocytic Leukemia (CLL)
Duvelisib for Ibrutinib-Resistant Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Background: Chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL) are cancers often treated with the drug ibrutinib. For some people, ibrutinib stops working.
- Trial name
- NCT04209621
- Testing
- Duvelisib, Ibrutinib
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
NSCLC
JY025 is a First-line Treatment for EGFR Mutated NSCLC Phase II and III Clinical Trials of Efficacy and Safety
The Phase II study is a multi-center, open, dose escalation and dose extension clinical trial. It is planned to enroll 24 patients; the phase III study is a multi-center, randomized, double-blind, placebo-controlled clinical…
- Trial name
- NCT04874844
- Testing
- Recombinant anti-VEGFR2 fully human monoclonal antibody (JY025)
- Volunteers
- 420 people
- Sponsor
- Beijing Dongfang Biotech Co., Ltd.
Stomach Neoplasms, Stomach Cancer
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers.
- Conditions
- Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC)
- Trial name
- NCT03030404
- Where
- United States
- Volunteers
- 733 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Acute Myeloid Leukaemia (AML)
Mesenchymal Stem Cells in NPM1 Mutated Low Risk Acute Myeloid Leukemia: a Study of the Tumor Microenvironment and Its Contribution to the Outcome
Acute Myeloid Leukemia (AML) arises from the somatic acquisition of genetic alterations in hematopoietic progenitor or stem cells.
- Trial name
- NCT07379528
- Where
- Italy
- Volunteers
- 70 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Gastrointestinal Carcinoma, Pancreatic Cancer
A Phase II Study of Adjuvant Immunotherapy Targeting KRAS G12D, KRAS G12V, or TP53 R175H for Participants With Advanced Gastrointestinal Malignancies
Background: Gastrointestinal (GI) cancer affects the organs (such as the stomach, large and small intestine, pancreas, colon, liver, and biliary system) of the digestive tract.
- Conditions
- Gastrointestinal Carcinoma, Pancreatic Cancer, Hepatocellular Cancer, Cholangiocarcinoma
- Trial name
- NCT06690281
- Testing
- KRAS TCR-Transduced PBL, Aldesleukin, Fludarabine
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)
Advanced Malignant Solid Neoplasm, Metastatic Malignant Solid Neoplasm
Testing the Combination of the Anti-cancer Drugs Copanlisib, Olaparib, and MEDI4736 (Durvalumab) in Patients With Advanced Solid Tumors With Selected Mutations
This phase Ib trial seeks to identify the side effects and best dose of the combination of copanlisib and olaparib when given together with durvalumab.
- Conditions
- Advanced Malignant Solid Neoplasm, Metastatic Malignant Solid Neoplasm, Unresectable Malignant Solid Neoplasm
- Trial name
- COD (NCT03842228)
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- 17 sites in United States
- Volunteers
- 39 people
- Sponsor
- National Cancer Institute (NCI)
Dent Disease
Dent Disease Mutation Genotyping
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
- Trial name
- NCT01783795
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Venous Malformation, Lymphatic Malformation
First in Human Trial of Topical VT30 in Pts With Venous/Lymphatic Malformations Assoc With PIK3CA or TEK Gene Mutations
VT30-101 is a 2-part first-in-human trial of topically administered VT30 to subjects with cutaneous venous malformations, lymphatic malformations, or mixed venolymphatic malformations associated with PIK3CA or TEK mutations.
- Conditions
- Venous Malformation, Lymphatic Malformation, Venolymphatic Malformation
- Trial name
- NCT04409145
- Testing
- VT30
- Where
- 15 sites in United States
- Volunteers
- 15 people
- Sponsor
- Venthera, Inc., a BridgeBio company
Non Small Cell Lung Cancer
Study of Anlotinib Combined With Icotinib as the First-line Treatment in Patients With EGFR Mutation-positive NSCLC
Evaluate the efficacy and safety of Anlotinib plus Icotinib as the first-line treatment in patients with sensitive EGFR mutations advanced non-small cell lung cancer.
- Trial name
- ALTER-L004 (NCT03736837)
- Testing
- Anlotinib Plus Icotinib
- Where
- 5 sites in China
- Volunteers
- 60 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
Inherited Retinal Diseases
Extension Study of the PUMCH-E101 Clinical Trial：Safety and Efficacy Study of PUMCH-E101 Injection in the Contralateral Eye
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in the contralateral eye of subjects with RDH12 retinopathy.
- Trial name
- NCT07878572
- Testing
- PUMCH-E101 Injection(High dose)
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Peking Union Medical College Hospital
Hereditary Hypotrichosis Simplex
Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN
The scalp-limited for of hereditary hypotrichosis simplex (HHS; MIM146520) is an autosomal dominant form of non-syndromic alopecia which is caused by heterozygous nonsense mutations in the CDSN gene, encoding corneodesmosin (1).
- Trial name
- NCT03492866
- Testing
- Gentamicin Sulfate
- Volunteers
- 8 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Adenoid Cystic Carcinoma
A Study Of AL101In Patients With Adenoid Cystic Carcinoma (ACC) Bearing Activating Notch Mutations
This is a Phase 2, non comparative, open label, multicenter study of AL101 in patients with recurrent or metastatic ACC who harbor NOTCH 1,2,3,4 activating mutations.
- Trial name
- ACCURACY (NCT03691207)
- Testing
- AL101
- Where
- 17 sites in United States, Canada and 4 more
- Volunteers
- 87 people
- Sponsor
- Ayala Pharmaceuticals, Inc,
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