Clinical trials: Genetic Mutation
Cystic Fibrosis, Advanced Lung Disease
Study to Evaluate Lumacaftor and Ivacaftor Combination Therapy in Subjects 12 Years and Older With Advanced Lung Disease
The purpose of this study is to evaluate the safety and tolerability of LUM/IVA combination therapy in subjects 12 years and older with CF and advanced lung disease and who are homozygous for the F508del CFTR mutation
- Trial name
- NCT02390219
- Testing
- Lumacaftor, Ivacaftor
- Where
- 6 sites in United States
- Volunteers
- 46 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Brain and Central Nervous System Tumors, Lymphoma
Genetic Study in Patients Receiving Treatment for Hodgkin's Disease or Childhood Brain Tumor
RATIONALE: Determination of genetic markers for leukemia or non-Hodgkin's lymphoma that is secondary to Hodgkin's disease and childhood brain tumors may help doctors to identify patients who are at risk for these cancers.
- Trial name
- NCT00006342
- Testing
- chromosomal translocation analysis, gene rearrangement analysis, mutation analysis
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Duke University
Gynecologic Cancer, Breast Cancer
Web-based Family History Tool
The purpose of this pilot study is to determine if a web-based tool that collects family health history is useful for patients being seen in a gynecologic oncology office setting.
- Conditions
- Gynecologic Cancer, Breast Cancer, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- Progeny (NCT04890327)
- Testing
- Web-based family health history tool
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Gastric Influenza
Evaluation of Efficacity and Safety of Oseltamivir and Zanamivir
In order to prevent the high mortality due to an hypothetic pandemic caused by a newly emerging influenza A virus, antiviral drugs are seen as essential requirements for control of initial influenza outbreaks.Two antivirals are…
- Trial name
- BIVIR (NCT00799760)
- Testing
- oseltamivir + zanamivir
- Where
- France
- Volunteers
- 541 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Multiple Myeloma, Relapsed/Refractory
Testing JNJ-42756493 In Combination With Dexamethasone in Multiple Myeloma That Came Back After a Period of Improvement
This is a phase 2 study to see how effective investigational drug, JNJ-42756493, is when given in combination with dexamethasone in two groups of patients with multiple myeloma (cancer of the plasma cells, a type of white blood…
- Trial name
- NCT02952573
- Testing
- JNJ-42756493, Dexamethasone
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- University Health Network, Toronto
Ameloblastoma, BRAF V600E Mutation Positive
Clinical Study of Neoadjuvant Targeted Therapy for Ameloblastoma
This study aims to evaluate the tumor shrinkage effect of preoperative targeted induction therapy with dabrafenib and trametinib in patients with conventional ameloblastoma harboring the BRAF V600E mutation.
- Trial name
- NETCAM (NCT06653517)
- Testing
- Dabrafenib, Trametinib
- Where
- China
- Volunteers
- 12 people
- Sponsor
- Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University
Carcinoma, Non-Small-Cell Lung
Osimertinib Combined With Bevacizumab in the Treatment Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions Metastatic Non-Small Cell Lung Cancer
There is no muture method to treat EGFR 20 insertion mutation non-small-cell lung cancer (NSCLC). the he purpose of this study is to study osimertinib combined with bevacizumab in the management of it.
- Trial name
- NCT04974879
- Testing
- Osimertinib Oral Tablet
- Where
- China
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Qingdao Central Hospital
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Glioblastoma
Safety and Immunogenicity of Personalized Genomic Vaccine and Tumor Treating Fields (TTFields) to Treat Glioblastoma
The purpose of this study is to use precision medicine in the form of a vaccine, a mutation-derived tumor antigen vaccine (MTA-based vaccine) in combination with standard care treatment of glioblastoma (GBM) and Tumor Treating…
- Trial name
- NCT03223103
- Testing
- Poly-ICLC, Tumor Treating Fields, Peptides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Adilia Hormigo
Non Small Cell Lung Cancer
Phase 2 Study of Pyrotinib in Previously Treated Patients With NSCLC Having EGFR or ERBB2 Exon 20 Insertion Mutation
This is a Phase 2, open-label study to evaluate the efficacy and the safety/tolerability of pyrotinib in previously treated NSCLC patients with EGFR exon 20 insertion mutations or HER2 exon 20 insertion mutations.
- Trial name
- NCT04063462
- Testing
- Pyrotinib
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
Solid Tumors
JAB-30355 in Patients With Advanced Solid Tumors Harboring TP53 Y220C Mutation
This study is to evaluate the efficacy and safety of JAB-30355 in adult participants with advanced solid tumors harboring TP53 Y220C mutation.
- Trial name
- NCT06386146
- Testing
- JAB-30355
- Where
- 15 sites in United States, China
- Volunteers
- 144 people
- Sponsor
- Jacobio Pharmaceuticals Co., Ltd.
Acute Myeloid Leukemia, NPM1 Mutation
Observational Study on APL-like aCute Myeloid Leukemia: disTInct Phenotype and Early VAscular complicaTions
This is a multicenter observational study with a retrospective and a prospective cohort investigating clinically and biologically the APL-like subset as a potential predictor of coagulopathy and susceptibility to early vascular…
- Trial name
- ACTIVATE (NCT07080970)
- Testing
- observation of incidence of early vascular events
- Where
- Italy
- Volunteers
- 220 people
- Sponsor
- Gruppo Italiano Malattie EMatologiche dell'Adulto
Cardiovascular Disease, Arterial Stiffness
Natural History Study of CADASIL
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia.
- Conditions
- Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL
- Trial name
- NCT05072483
- Testing
- MRI
- Where
- United States
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Non-Small Cell Lung Cancer
Combining Afatinib and Concurrent Chemotherapy, Followed by Osimertinib and Concurrent Chemotherapy, in Untreated EGFR Positive NSCLC Tumors
The aim of the COMBINATION trial is to prospectively study the sequential approach of using afatinib combined with a short course of chemotherapy, followed by osimertinib, upon progression and acquisition of a T790M mutation…
- Trial name
- COMBINATION (NCT05298176)
- Testing
- Afatinib, Osimertinib, Carboplatin and Pemetrexed
- Where
- Netherlands
- Volunteers
- 5 people
- Sponsor
- Amsterdam UMC, location VUmc
Melanoma, BRAF V600 Mutation
Bioequivalence Binimetinib 3 x 15 mg and 45 mg Formulations
The current commercially available MEKTOVI® (binimetinib) 15 mg tablets are provided as immediate release film-coated tablets for oral administration.
- Conditions
- Melanoma, BRAF V600 Mutation, Unresectable Melanoma, Metastatic Melanoma
- Trial name
- NCT05810740
- Testing
- Binimetinib 15 MG, Binimetinib 45 MG
- Where
- France
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
BRCA1 Mutation, High-grade Serous Ovarian Cancer
Breast Cancer BRCA1 Carriers: a Pilot Study
The purpose of this study is to examine how a single dose of MIFEPREX® (mifepristone) affects the breast tissue in patients with BRCA1 (a gene that normally acts to restrain the growth of cells in the breast, but if it mutates…
- Conditions
- BRCA1 Mutation, High-grade Serous Ovarian Cancer, TNBC - Triple-Negative Breast Cancer
- Trial name
- NCT05062174
- Testing
- Mifepristone 200 MG, Prophylactic mastectomy
- Where
- 2 sites in United States
- Sponsor
- Indiana University
Oncology, MET Gene Amplification
Sym015 (Anti-MET) in Patients With Advanced Solid Tumor Malignancies
This is the first study to test Sym015 in humans. The primary purpose of this study is to see if Sym015 is safe and effective for patients with advanced solid tumor malignancies without available therapeutic options.
- Conditions
- Oncology, MET Gene Amplification, NSCLC, MET Gene Mutation
- Trial name
- NCT02648724
- Testing
- Sym015
- Where
- 27 sites in United States, Denmark and 4 more
- Volunteers
- 57 people
- Sponsor
- Symphogen A/S
De Novo Mutation, Preimplantation Genetic Testing
Optimized PGT-M Strategy for Patients With No Proband
The clinical practice of PGT-M for monogenetic disease usually adopted a double-checking strategy, which detect the mutation by Sanger sequencing and meantime construct haplotypes using the DNA sample of the proband so as to…
- Conditions
- De Novo Mutation, Preimplantation Genetic Testing, Without Proband
- Trial name
- NCT06722313
- Testing
- Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband
- Where
- China
- Volunteers
- 5 people
- Sponsor
- ShangHai Ji Ai Genetics & IVF Institute
Non-Small Cell Lung Cancer, Advanced Solid Tumors
Study to Assess Adverse Events and Change in Disease Activity in Adult Participants With Advanced Solid Tumors Receiving Intravenous (IV) ABBV-400 as Monotherapy and in Combination With IV Bevacizumab
Cancer is a condition where cells in a specific part of body grow and reproduce uncontrollably. The purpose of this study is to assess adverse events and change in disease activity when ABBV-400 is given to adult participants to…
- Conditions
- Non-Small Cell Lung Cancer, Advanced Solid Tumors, Gastroesophageal Adenocarcinoma, Colorectal Cancer
- Trial name
- NCT05029882
- Testing
- ABBV-400, Trifluridine/Tipiracil, Bevacizumab
- Where
- 82 sites in United States, Australia and 8 more
- Volunteers
- 520 people
- Sponsor
- AbbVie
NSCLC
A Phase II Trial of Camrelizumab Combined With Famitinib for Adjuvant Treatment of Stage II-IIIA NSCLC.
This is a phase II, open-label, multi-cohort study, aiming to investigate safety and efficacy of Camrelizumab combined with famitinib for adjuvant treatment of stage II-IIIA non-small cell lung cancer with high-risk for relapse…
- Trial name
- CAMFA-L (NCT05005468)
- Testing
- Camrelizumab, Famitinib
- Where
- China
- Volunteers
- 61 people
- Sponsor
- Shanghai Chest Hospital
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