Clinical trials: Gene Mutation
Advanced Breast Cancer
Olaparib+Trastuzumab in HER2[+],Breast Cancer Susceptibility Gene (BRCA) Mutated Advanced Breast Cancer
This is a multicenter, open-label, single-arm, phase II clinical trial, phase II trial will evaluate the efficacy and safety of olaparib plus trastuzumab in patients with HER2[+], BRCA-mutated advanced breast cancer
- Trial name
- OPHELIA (NCT03931551)
- Testing
- Olaparib [Lynparza®] plus Trastuzumab [Herceptin®]
- Where
- 4 sites in Spain
- Volunteers
- 5 people
- Sponsor
- MedSIR
Chronic Lymphocytic Leukemia, Waldenstrom Macroglobulinemia
A Study of Oral LOXO-305 in Patients With Previously Treated CLL/SLL or NHL
This is an open-label, multi-center Phase 1/2 study of oral LOXO-305 (pirtobrutinib) in patients with CLL/SLL and NHL who have failed or are intolerant to standard of care.
- Conditions
- Chronic Lymphocytic Leukemia, Waldenstrom Macroglobulinemia, Mantle Cell Lymphoma, Marginal Zone Lymphoma
- Trial name
- NCT03740529
- Testing
- Pirtobrutinib, Venetoclax, Rituximab
- Where
- 56 sites in United States, Australia and 8 more
- Volunteers
- 803 people
- Sponsor
- Loxo Oncology, Inc.
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
This study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants.
- Trial name
- NCT03796637
- Testing
- Ataluren
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- PTC Therapeutics
Neurological Disorders
Oregon Center for Complementary and Alternative Medicine in Neurological Disorders
The mission of the Oregon Center for Complementary and Alternative Medicine in Neurological Disorders (ORCCAMIND) is to facilitate research and education on the effectiveness and mechanisms of action of complementary and…
- Trial name
- NCT00010881
- Testing
- antioxidants, stress reduction
- Where
- United States
- Sponsor
- National Center for Complementary and Integrative Health (NCCIH)
Metastatic Breast Cancer
Treatment of Metastatic Breast Cancer With Fulvestrant Plus Palbociclib or Tamoxifen Plus Palbociclib
To assess longitudinal changes in allele frequency of ESR1 mutation in plasma in patients treated with Fulvestrant plus palbociclib compared to tamoxifen plus palbociclib
- Trial name
- NCT02913430
- Testing
- Fulvestrant, Tamoxifen, Palbociclib
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Shannon Puhalla
Acute Myocardial Infarction
A Trial of a Home Based Walking Program as an Alternate Program for Non Attenders at Cardiac Rehabilitation
The purpose of this study is to investigate if a home-based walking program is an acceptable alternative for those who choose not to attend formal cardiac rehabilitation programs and if such a program has an effect on coronary…
- Trial name
- CRU-SHAL (NCT00219830)
- Testing
- home-based walking program
- Where
- United Kingdom
- Sponsor
- Queen's University, Belfast
Neonatal Diabetes Secondary to Mutation in the Potassium Channel
Glibentek in Patients With Neonatal Diabetes Secondary to Mutations in K+-ATP Channels
The understanding of the molecular mechanisms of neonatal diabetes has deeply changed the therapy of patients carrying mutations in the K-ATP channel.
- Trial name
- NEOGLI (NCT02375828)
- Testing
- Glibenclamide
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
HIV Infections
Alternative Stress Management Approaches in HIV Disease
The overall purpose of the proposed study is to determine whether three short-term stress management interventions along with booster strategies will improve and sustain improvements in psychosocial functioning, quality of life…
- Trial name
- NCT00029237
- Testing
- Cognitive-behavioral relaxation (Positively Living), Spiritual growth group, Focused Tai Chi
- Where
- United States
- Volunteers
- 392 people
- Sponsor
- National Center for Complementary and Integrative Health (NCCIH)
Menin Inhibitors, Acute Leukemia
A Real-world Study on the Efficacy and Safety of Menin Inhibitors as Maintenance After Allo-HSCT
The objective of this observational study is to evaluate the efficacy and safety of menin inhibitor maintenance therapy in patients with acute leukemia who have undergone allogeneic hematopoietic stem cell transplantation…
- Conditions
- Menin Inhibitors, Acute Leukemia, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy
- Trial name
- NCT07559695
- Where
- China
- Volunteers
- 20 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Non Small Cell Lung Cancer
Furmonertinib Combined With Intrathecal Chemotherapy and Stereotactic Radiotherapy (SRT) for EGFR-Mutated NSCLC Patients With Brain Parenchymal and Leptomeningeal Metastases
A Single-Arm Clinical Study of Furmonertinib (160mg) Combined with Intrathecal Chemotherapy (ITC) and Stereotactic Radiotherapy (SRT) as First-Line Treatment in EGFR Classic Mutation-Positive NSCLC Patients with Brain Parenchymal…
- Trial name
- NCT07304739
- Testing
- Furmonertinib, Intrathecal chemotherapy, Stereotactic radiotherapy
- Where
- 3 sites in China
- Volunteers
- 30 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
High Myopia, Gene Mutations
TGFB1 And LAMA1 Gene Polymorphisms in High Myopia
The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications.
- Trial name
- NCT03451877
- Testing
- TGFB1 AND LAMA1 GENE POLYMORPHISMS
- Volunteers
- 151 people, healthy volunteers welcome
- Sponsor
- Ege University
NSCLC, HER2-expression
Paclitaxel-trastuzumab in EGFR-mutated NSCLC Patients
This study is a pilot study in EGFR-mutated NSCLC patients who have progressed on standard-dose TKIs. Tumor biopsies will be evaluated for HER2-expression.
- Conditions
- NSCLC, HER2-expression, EGFR-mutation
- Trial name
- NCT02226757
- Testing
- Paclitaxel-trastzumab
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Amsterdam UMC, location VUmc
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
Pain, Pulmonary Nodules
Effect of CYP2D6*10 Gene Mutation on Perioperative Precision Analgesia of Oxycodone in Elderly Patients
The purpose of this prospective study was to determine the effect of CYP2D6 gene polymorphism on perioperative analgesia of oxycodone in elderly patients, and to assign the CYP2D6 phenotype according to the genotype, and to use…
- Conditions
- Pain, Pulmonary Nodules, Oxycodone
- Trial name
- NCT07484867
- Testing
- oxycodone
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Henan Provincial People's Hospital
Advanced Cancers
Phosphatidylinositol 3 Kinase and Mammalian Target of Rapamycin (PI3K-mTOR) in Advanced Cancer Patients
The goal of this clinical research study is to learn if temsirolimus can help to control advanced cancer in patients who also have a PI3K mutation and/or PTEN loss. The safety of this drug will also be tested.
- Trial name
- NCT00877773
- Testing
- Temsirolimus
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- M.D. Anderson Cancer Center
Pulmonary Arterial Hypertension
Effect of BMPR-2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension
In the present study, the investigators want to investigate the prevalence of BMPR-2 gene mutations in the Korean PAH patients (Step-I) and to test that the PAH patients treated with iloprost inhalation solution (Ventavis®) would…
- Trial name
- PILGRIM (NCT01054105)
- Testing
- Iloprost
- Where
- 6 sites in South Korea
- Volunteers
- 73 people
- Sponsor
- Gachon University Gil Medical Center
VHL Gene Mutation, VHL
MK-3795 (PT2385) for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma (MK-3795-003)
The primary objective of this study is to assess the overall response rate (ORR) of von Hippel-Lindau (VHL) disease-associated clear cell renal cell carcinoma (ccRCC) tumors in VHL participants treated with MK-3795.
- Conditions
- VHL Gene Mutation, VHL, VHL Syndrome, VHL Gene Inactivation
- Trial name
- NCT03108066
- Testing
- MK-3795
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)
Von Hippel-Lindau Disease
Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)
Background: Von Hippel-Lindau (VHL) disease is a rare gene disease. People with VHL often have a brain tumor called hemangioblastoma. Standard treatment for these tumors is risky surgery.
- Trial name
- NCT02108002
- Testing
- Vorinostat
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome
Study of Orally Administered AG-881 in Patients With Advanced Hematologic Malignancies With an IDH1 and/or IDH2 Mutation
The purpose of this Phase I, multicenter study is to evaluate the safety, pharmacokinetics, pharmacodynamics and clinical activity of AG-881 in advanced hematologic malignancies that harbor an IDH1 and/or IDH2 mutation
- Conditions
- Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome, Hematologic Malignancies
- Trial name
- NCT02492737
- Testing
- AG881
- Where
- 6 sites in United States, France
- Volunteers
- 46 people
- Sponsor
- Agios Pharmaceuticals, Inc.
Colorectal Cancer, Colon Cancer
Neoadjuvant Encorafenib, Binimetinib and Cetuximab for Patients With BRAF V600E Mutated/pMMR Localized Colorectal Cancer
AIO-KRK-0420 NeoBRAF is a single arm, multicenter, phase II trial with neoadjuvant encorafenib, binimetinib and cetuximab for patients with BRAF V600E mutated/pMMR localized colorectal cancer.
- Conditions
- Colorectal Cancer, Colon Cancer, BRAF V600E, BRAF V600 Mutation
- Trial name
- NeoBRAF (NCT05510895)
- Testing
- Binimetinib
- Where
- Germany
- Volunteers
- 2 people
- Sponsor
- AIO-Studien-gGmbH
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