Clinical trials: Gene Mutations
Colon Cancer, MTHFR Gene Mutation
C677T and A1298C MTHFR Polymorphisms and Fluoropyrimidine Effectiveness in Metastatic Colon Cancer
Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). These drugs act in different pathways of folate metabolism altering DNA synthesis mainly by inhibition of the tymidylate…
- Conditions
- Colon Cancer, MTHFR Gene Mutation, Chemotherapeutic Toxicity, Chemotherapy Effect
- Trial name
- NCT03852290
- Where
- Costa Rica
- Volunteers
- 65 people
- Sponsor
- Universidad de Costa Rica
Mendelian Disorders, Genetic Disorder
Delineation of Novel Monogenic Disorders in the United Arab Emirates Population
The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in…
- Conditions
- Mendelian Disorders, Genetic Disorder, Novel Mutation, Hereditary Disorder
- Trial name
- NCT03589079
- Testing
- Sanger and/or Next Generation Sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 150 people
- Sponsor
- Imperial College London Diabetes Centre
Metastatic Carcinoma in the Liver, MLH1 Gene Mutation
Durvalumab and Tremelimumab in Treating Patients With Microsatellite Stable Metastatic Colorectal Cancer to the Liver
This pilot clinical trial studies the side effects and how well durvalumab and tremelimumab work in treating patients with microsatellite stable colorectal cancer that has spread to the liver.
- Conditions
- Metastatic Carcinoma in the Liver, MLH1 Gene Mutation, MSH6 Gene Mutation, PMS2 Gene Mutation
- Trial name
- NCT03005002
- Testing
- Durvalumab, Laboratory Biomarker Analysis, Tremelimumab
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- City of Hope Medical Center
Solid Tumor, HER2 Gene Mutation
The Basket Study of Pyrotinib Maleate for HER2-Postive Solid Tumor
This is an open-label, Phase 2 study exploring the efficacy and safety of 马来酸Pyrotinib Maleate Tablets in patients with solid tumors with activating（harmful） HER2 mutations or with HER2 gene amplification or immunohistochemical…
- Conditions
- Solid Tumor, HER2 Gene Mutation, HER-2 Gene Amplification, HER-2 Protein Overexpression
- Trial name
- NCT04179656
- Testing
- Pyrotinib
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Tianjin Medical University Second Hospital
PTEN Gene Mutation
Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome
The purpose of this study is to gain a better understanding of access to clinical and research resources for families of children affected with a phosphatase and tensin homology (PTEN) mutation.
- Trial name
- NCT03680924
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- University of South Florida
Lamin A/C Gene Mutation, Dilated Cardiomyopathy, Familial
The Deep Phenotype of Lamin A/C Cardiomyopathy
This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'.
- Trial name
- NCT03860454
- Where
- 6 sites in United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University College, London
Breast Neoplasms, BRCA 1 Gene Mutation
A Phase 2, 2-Stage, 2-Cohort Study of Talazoparib (BMN 673), in Locally Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (ABRAZO Study)
The purpose of this 2-stage, 2-cohort Phase 2 trial is to evaluate the safety and efficacy of talazoparib (also known as BMN 673) in subjects with locally advanced or metastatic breast cancer with a deleterious germline BRCA 1 or…
- Conditions
- Breast Neoplasms, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- ABRAZO (NCT02034916)
- Testing
- talazoparib
- Where
- 71 sites in United States, France and 3 more
- Volunteers
- 84 people
- Sponsor
- Pfizer
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Atypical Ductal Breast Hyperplasia, BRCA1 Gene Mutation
Pilot Study of Curcumin for Women With Obesity and High Risk for Breast Cancer
This randomized pilot clinical trial studies a nanoemulsion formulation of curcumin in reducing inflammatory changes in breast tissue in obese women at high risk for breast cancer.
- Conditions
- Atypical Ductal Breast Hyperplasia, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Ductal Breast Carcinoma in Situ
- Trial name
- NCT01975363
- Testing
- curcumin, Biomarker analysis, Assessment of Dietary Intake
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Ohio State University Comprehensive Cancer Center
Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations
Midostaurin and Decitabine in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia and FLT3 Mutation
This phase II trial studies how well midostaurin and decitabine work in treating older patients with newly diagnosed acute myeloid leukemia and FLT3 mutations.
- Conditions
- Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, FLT3 Tyrosine Kinase Domain Point Mutation, Secondary Acute Myeloid Leukemia
- Trial name
- NCT02634827
- Testing
- Decitabine, Laboratory Biomarker Analysis, Midostaurin
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Mayo Clinic
Pancreatic Neoplasms, Peutz-Jegher's Syndrome
Pancreatic Cancer Screening of High-Risk Individuals in Arkansas
100 subjects who have a family history of pancreatic cancer (PC), or known genetic syndromes associated with increased risk of pancreatic cancer, will be followed for five years.
- Conditions
- Pancreatic Neoplasms, Peutz-Jegher's Syndrome, BRCA1 Gene Mutation, BRCA2 Gene Mutation
- Trial name
- NCT02309632
- Testing
- Pancreatic Cancer Screening Pathway 1, Pancreatic Cancer Screening Pathway 2
- Where
- United States
- Sponsor
- University of Arkansas
ATM Gene Mutation, Deleterious BRCA1 Gene Mutation
Epacadostat and Pembrolizumab in Treating Participants With Advanced Pancreatic Cancer
This phase II trial studies how well epacadostat and pembrolizumab work in treating participants with pancreatic cancer that has spread to other places in the body.
- Conditions
- ATM Gene Mutation, Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Homologous Recombination Deficiency
- Trial name
- NCT03432676
- Testing
- Epacadostat, Pembrolizumab
- Sponsor
- M.D. Anderson Cancer Center
FGFR Gene Amplification, FGFR1 Gene Amplification
BGJ398 in Treating Patients With FGFR Positive Recurrent Head and Neck Cancer
This phase IIa trial studies how well the experimental drug, BGJ398 (infigratinib), works in treating patients with fibroblast growth factor receptor (FGFR) 1-3 translocated, mutated, or amplified head and neck cancer that has…
- Conditions
- FGFR Gene Amplification, FGFR1 Gene Amplification, FGFR2 Gene Amplification, FGFR2 Gene Mutation
- Trial name
- NCT02706691
- Testing
- BGJ398
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Chicago
ALK Gene Translocation, EGFR Activating Mutation
Nivolumab and Plinabulin in Treating Patients With Stage IIIB-IV, Recurrent, or Metastatic Non-small Cell Lung Cancer
This phase I/II trial studies the side effects and best dose of plinabulin when given together with nivolumab and to see how well they work in treating patients with stage IIIB-IV non-small cell lung cancer that has come back or…
- Conditions
- ALK Gene Translocation, EGFR Activating Mutation, Recurrent Non-Small Cell Lung Carcinoma, ROS1 Gene Translocation
- Trial name
- NCT02846792
- Testing
- Nivolumab, Plinabulin
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Washington
Lung Neoplasms, KRAS Gene Mutation
Frequency of EGFR and KRAS Mutations and Clinical-prognostic Correlation in Brazilian Lung Cancer Patients
The assessment of the type and frequency of EGFR and KRAS mutations in lung cancer patients, as well as clinical-prognostic correlation, are crucial in the era of targeted therapies.
- Conditions
- Lung Neoplasms, KRAS Gene Mutation, EGFR Gene Mutation
- Trial name
- NCT03171636
- Where
- Brazil
- Volunteers
- 130 people
- Sponsor
- Hospital Erasto Gaertner
EGFR Gene Mutation
EGFR-TKIs Combine With Anlotinib as First-line Treatment for Patients With Advanced EGFR Mutation-positive NSCLC
A single arm study: EGFR-TKIs Combine With Anlotinib as First-line Treatment in patients with EGFR-mutant non-small-cell lung cancer (NSCLC).
- Trial name
- NCT03720873
- Testing
- erlotinib or gefitinib or icotinib, Anlotinib
- Where
- China
- Volunteers
- 90 people
- Sponsor
- Fujian Cancer Hospital
Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
- Conditions
- Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L, Healthy Volunteers
- Trial name
- Rementips (NCT02980302)
- Testing
- Cutaneous biopsy
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Cancer, Lung Cancer Metastatic
Capmatinib in Patients With Non-small Cell Lung Cancer Harboring cMET exon14 Skipping Mutation
This study is a phase II, single-arm, open label study under an umbrella trial for NSCLC. This clinical study is targeted for the patients who harbor exon 14 skipping mutation of MET and all patients will be treated with…
- Conditions
- Cancer, Lung Cancer Metastatic, MET Gene Mutation
- Trial name
- NCT03693339
- Testing
- Capmatinib
- Where
- South Korea
- Volunteers
- 27 people
- Sponsor
- Asan Medical Center
BRAF Gene Mutation, Hepatic Complication
Dabrafenib in Treating Patients With Solid Tumors and Kidney or Liver Dysfunction
This phase I trial studies the side effects and best dose of dabrafenib in treating patients with solid tumors and kidney or liver dysfunction.
- Conditions
- BRAF Gene Mutation, Hepatic Complication, Renal Failure, Solid Neoplasm
- Trial name
- NCT01907802
- Testing
- Dabrafenib, Laboratory Biomarker Analysis, Pharmacogenomic Study
- Where
- 18 sites in United States, Canada
- Volunteers
- 8 people
- Sponsor
- National Cancer Institute (NCI)
Opioid Dependence, Methadone Toxicity
KCNH2 Polymorphisms on the QTc Interval in Kelantanese Malays Patients Receiving Methadone Maintenance Therapy (MMT)
Methadone maintenance therapy (MMT) is one of the modalities to prevent HIV transmission among injected drug users, particularly in opioid-dependent users.
- Conditions
- Opioid Dependence, Methadone Toxicity, HERG Gene Mutation
- Trial name
- NCT03603158
- Where
- Malaysia
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Universiti Sains Malaysia