Clinical trials: Gene Mutations
CTNNB1 Gene Mutation
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrome.
- Trial name
- Gen-Phe CTNNB1 (NCT04812119)
- Testing
- The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F), The Autism Spectrum Quotient-Children's Version (AQ-Child), The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
- Where
- 3 sites in Australia, Slovenia
- Volunteers
- 100 people
- Sponsor
- University Medical Centre Ljubljana
Non-Small Cell Lung Cancer, Non-squamous Non-small-cell Lung Cancer
KEAPSAKE: A Study of Telaglenastat (CB-839) With Standard-of-Care Chemoimmunotherapy in 1L KEAP1/NRF2-Mutated, Nonsquamous NSCLC
This is a Phase 2, randomized, multicenter, double-blind study of the glutaminase inhibitor telaglenastat with standard-of-care pembrolizumab and chemotherapy versus placebo with standard-of-care pembrolizumab and chemotherapy…
- Conditions
- Non-Small Cell Lung Cancer, Non-squamous Non-small-cell Lung Cancer, Non-Squamous Non-Small Cell Neoplasm of Lung, KEAP1 Gene Mutation
- Trial name
- KEAPSAKE (NCT04265534)
- Testing
- Telaglenastat, Carboplatin Chemotherapy, Pemetrexed Chemotherapy
- Where
- 102 sites in United States
- Volunteers
- 40 people
- Sponsor
- Calithera Biosciences, Inc
Solid Tumors, NSCLC
A Study of Telaglenastat (CB-839) in Combination With Palbociclib in Patients With Solid Tumors
This is a Phase 1b/2 study to determine the recommended phase 2 dose (RP2D), safety and tolerability, pharmacokinetics (PK) and clinical activity of the glutaminase inhibitor telaglenestat (CB-839) with the CDK4/6 Inhibitor…
- Conditions
- Solid Tumors, NSCLC, CRC, KRAS Gene Mutation
- Trial name
- NCT03965845
- Testing
- Telaglenestat (CB-839), Palbociclib Oral Capsule or Tablet [Ibrance]
- Where
- 10 sites in United States
- Volunteers
- 53 people
- Sponsor
- Calithera Biosciences, Inc
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Prospective Research of Outcomes After Salpingo-oophorectomy
PROSper is a prospective cohort study of 100 women 35-50 years of age with BRCA 1/2 mutations who have elected to either undergo risk reducing salpingo-oophorectomy (RRSO) or nonsurgical management.
- Trial name
- PROSper (NCT01948609)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of California, San Francisco
Lung Adenocarcinoma Stage III, Lung Adenocarcinoma Stage IV
Neoadjuvant Furmonertinib Plus Bevacizumab or Furmonertinib Monotherapy for Resectable and Potentially Resectable Stage III-IVA EGFR Mutation-Positive Lung Adenocarcinoma
To explore the efficacy and safety of neoadjuvant furmonertinib combined with bevacizumab in the treatment of resectable and potentially resectable stage III-IVA EGFR mutation-positive lung adenocarcinoma.
- Conditions
- Lung Adenocarcinoma Stage III, Lung Adenocarcinoma Stage IV, EGFR Gene Mutation
- Trial name
- NCT05503667
- Testing
- Furmonertinib, Bevacizumab
- Where
- China
- Volunteers
- 96 people
- Sponsor
- Shanghai Pulmonary Hospital, Shanghai, China
Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
Sorafenib Tosylate and Chemotherapy in Treating Older Patients With Acute Myeloid Leukemia
This phase II trial studies how well sorafenib tosylate and chemotherapy work in treating older patients with acute myeloid leukemia (AML).
- Conditions
- Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11, Acute Myeloid Leukemia With t(8;21); (q22; q22.1); RUNX1-RUNX1T1, Acute Promyelocytic Leukemia With PML-RARA
- Trial name
- NCT01253070
- Testing
- Biopsy, Bone Marrow Aspiration, Cytarabine
- Where
- 43 sites in United States
- Volunteers
- 54 people
- Sponsor
- National Cancer Institute (NCI)
Ataxia Telangiectasia, ATM Gene Mutation
Effects of Vitamin B3 in Patients With Ataxia Telangiectasia
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia.
- Trial name
- NCT03962114
- Testing
- Vitamin B3
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Radboud University Medical Center
Solid Tumors, Triple-Negative Breast Cancer
Study of the Glutaminase Inhibitor CB-839 in Solid Tumors
Many tumor cells, in contrast to normal cells, have been shown to require the amino acid glutamine to produce energy for growth and survival.
- Conditions
- Solid Tumors, Triple-Negative Breast Cancer, Non Small Cell Lung Cancer, Renal Cell Carcinoma
- Trial name
- NCT02071862
- Testing
- CB-839, Pac-CB, CBE
- Where
- 13 sites in United States
- Volunteers
- 210 people
- Sponsor
- Calithera Biosciences, Inc
Breast Adenocarcinoma, Deleterious BRCA1 Gene Mutation
Talazoparib Before Standard Therapy in Treating Patients With Invasive, BRCA-Mutated Breast Cancer
This phase II trial studies the side effects of talazoparib when given before standard therapy in treating patients with breast cancer that has spread to nearby healthy tissue and has a mutation in a breast cancer, early onset…
- Conditions
- Breast Adenocarcinoma, Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, HER2/Neu Negative
- Trial name
- NCT02282345
- Testing
- Laboratory Biomarker Analysis, Talazoparib
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- M.D. Anderson Cancer Center
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
Non-squamous Non-small Cell Lung Cancer, EGFR Gene Mutation
Tislelizumab +Bevacizumab+pc for Untreated EGFR+ and High PD-L1 Non-squamous NSCLC
A study to evaluate the efficacy and safety of tislelizumab combined with bevacizumab and platinum-based pemetrexed in the treatment of naïve patients with advanced non-squamous non-small cell lung cancer with sensitive EGFR…
- Trial name
- NCT05394233
- Testing
- Tislelizumab Combined With Bevacizumab and Platinum Plus Pemetrexed
- Where
- 3 sites in China
- Volunteers
- 20 people
- Sponsor
- Sichuan Cancer Hospital and Research Institute
Mediastinal Lymphadenopathy, Hilar Lymphadenopathy
Endobronchial Ultrasound Needle Aspiration With and Without Suction
The main purpose of the present study is to compare the diagnostic yield of different aspiration techniques in Ultrasound-guided Transbronchial Needle Aspiration (EBUS-TBNA) in the diagnosis of hilar/mediastinal adenopathy
- Conditions
- Mediastinal Lymphadenopathy, Hilar Lymphadenopathy, Lymphoma, Lung Neoplasms
- Trial name
- NCT05110950
- Testing
- No suction EBUS-TBNA, Passive suction through dedicated EBUS-TBNA syringe, Manual applied suction EBUS-TBNA through a pistol-grip syringe holder
- Where
- Italy
- Volunteers
- 306 people
- Sponsor
- Università Politecnica delle Marche
Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood
A Prospective Multicenters Clinical Cohort Study of Stratified Treatment of Chinese Children With LBL
With the development of molecular biology and precise medical treatment, new challenges have been raised in the diagnosis and treatment of non-Hodgkin lymphoma (NHL) in children.
- Conditions
- Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood, PTEN Loss, NOTCH1 Gene Mutation
- Trial name
- NCT03971318
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Sun Yat-sen University
Anemia, ASXL1 Gene Mutation
Allogeneic Stem Cell Transplantation for Multiple Myeloma and Myelofibrosis
This phase II trial studies how well busulfan, fludarabine, donor stem cell transplant, and cyclophosphamide in treating participants with multiple myeloma or myelofibrosis.
- Conditions
- Anemia, ASXL1 Gene Mutation, EZH2 Gene Mutation, IDH1 Gene Mutation
- Trial name
- NCT03303950
- Testing
- Busulfan, Cyclophosphamide, Fludarabine
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Utah
Non Small Cell Lung Cancer, T790M
Osimertinib for Russian EGFR T790M Mutation-positive NSCLC Patients Who Progressed on or After EGFR TKI Therapy
The purpose of this study is to assess safety of Osimertinib in patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with progression during or after therapy with a prior EGFR tyrosine kinase inhibitor…
- Conditions
- Non Small Cell Lung Cancer, T790M, EGFR Gene Mutation
- Trial name
- TRUST (NCT05314296)
- Where
- Russia
- Volunteers
- 70 people
- Sponsor
- N.N. Blokhin National Medical Research Center of Oncology
Epithelial Ovarian Cancer, Homologous Recombination Deficiency
HRD and Resistance to PAPPi in EOC Patients
The association between homologous recombination (HR) gene mutations and homologous recombination deficiency (HRD) status in Chinese epithelial ovarian cancer (EOC) patients has been investigated in previous studies (NCT04190667…
- Conditions
- Epithelial Ovarian Cancer, Homologous Recombination Deficiency, Homologous Recombination Repair Gene Mutation, Poly(ADP-ribose) Polymerase Inhibitor
- Trial name
- NCT05310370
- Testing
- Testing of homologous recombination deficiency
- Where
- China
- Volunteers
- 400 people
- Sponsor
- Lei Li
Epithelial Ovarian Cancer, Chinese
A Study on Association Between HR Genes and the HRD Status in Chinese Epithelial Ovarian Cancer
The association between homologous recombination (HR) gene mutations and homologous recombination deficiency (HRD) status in Chinese epithelial ovarian cancer (EOC) patients is little known.
- Conditions
- Epithelial Ovarian Cancer, Chinese, Homologous Recombination Deficiency, BRCA1 Mutation
- Trial name
- NCT04651920
- Testing
- Evaluation of homologous recombination deficiency score
- Where
- China
- Volunteers
- 240 people
- Sponsor
- Lei Li
Non Small Cell Lung Cancer, Advanced Lung Non-Small Cell Carcinoma
Study of Pembrolizumab With Single Agent Chemotherapy in Elderly Patients With Advanced NSCLC
This Phase II trial is to see how well single agent chemotherapy and pembrolizumab work elderly patients (≥ 75 years) with advanced non small cell lung cancer (NSCLC).
- Conditions
- Non Small Cell Lung Cancer, Advanced Lung Non-Small Cell Carcinoma, PD-L1 Gene Mutation
- Trial name
- HFHS 21-01 (NCT04754815)
- Testing
- Pembrolizumab, Pemetrexed, Paclitaxel
- Sponsor
- Shirish Gadgeel
Lung Cancer, Non-small Cell Lung Cancer
Study of Durvalumab or Durvalumab Plus Chemotherapy in Kras Mutation Positive and PD-L1 High (≥ 50%) NSCLC Patients
This is a two arm, randomized, phase II study of patients with advanced KRAS mutation positive and PD-L1 high NSCLC who have not received therapy for advanced stage disease.
- Conditions
- Lung Cancer, Non-small Cell Lung Cancer, PD-L1 Gene Mutation, KRAS Activating Mutation
- Trial name
- NCT04470674
- Testing
- Durvalumab, Carboplatin, Pemetrexed
- Where
- United States
- Sponsor
- Shirish M Gadgeel
Gene Mutation in Infantile Onset Diabetes Mellitus
Genetic Study for Infantile Onset Diabetes Mellitus
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
- Trial name
- NCT03519217
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Shimaa Kamal