Clinical trials: Genetic Mutation
Locally Advanced or Metastatic KRAS G12C-mutated NSCLC With a PD-L1 Expression <1% or a PD-L1 Expression ≥ 1% and an STK11 Co-mutation
Study of Efficacy and Safety of JDQ443 Single-agent as First-line Treatment for Patients With Locally Advanced or Metastatic KRAS G12C- Mutated Non-small Cell Lung Cancer With a PD-L1 Expression < 1% or a PD-L1 Expression ≥ 1% and an STK11 Co-mutation.
This study aims to evaluate the antitumor activity and safety of JDQ443 single-agent as first-line treatment for participants with locally advanced or metastatic non-small cell lung cancer (NSCLC) whose tumors harbor a KRAS G12C…
- Trial name
- KontRASt-06 (NCT05445843)
- Testing
- JDQ443
- Where
- 45 sites in United States, Argentina and 17 more
- Volunteers
- 95 people
- Sponsor
- Novartis Pharmaceuticals
ALK-activated Tumors
Phase I Study of LDK378 in Pediatric, Malignancies With a Genetic Alteration in Anaplastic Lymphoma Kinase (ALK)
The purpose of this study was to estimate the maximum tolerated dose and/or recommended dose for expansion of LDK378 as a single agent, assess safety, tolerability and anti-tumor activity and characterize single and multiple-dose…
- Trial name
- NCT01742286
- Testing
- Ceritinib
- Where
- 23 sites in United States, Australia and 8 more
- Volunteers
- 83 people
- Sponsor
- Novartis Pharmaceuticals
Advanced or Metastatic Breast Cancer, ER+ve Advanced or Metastatic Breast Cancer
Investigating Safety, Tolerability and Efficacy of AZD5363 When Combined With Paclitaxel in Breast Cancer Patients
The purpose of this study is to investigate the safety and efficacy of different doses and schedules of AZD5363, when in combination with paclitaxel, in treatment of patients with advanced or metastatic breast cancer.
- Trial name
- BEECH (NCT01625286)
- Testing
- AZD5363 when combined with weekly paclitaxel., AZD5363when combined with weekly paclitaxel.
- Where
- 41 sites in Bulgaria, Canada and 9 more
- Volunteers
- 148 people
- Sponsor
- AstraZeneca
Amyloid Cardiomyopathy, Transthyretin-Related
Screening for Cardiac Amyloidosis With Nuclear Imaging for Minority Populations
In this study, the investigators recruited a cohort of elderly Black and Hispanic patients with heart failure to define the number of patients who have cardiac amyloidosis by utilizing highly sensitive heart imaging and blood…
- Trial name
- SCAN-MP (NCT03812172)
- Testing
- 99mTc-PYP or 99m Tc-HDP
- Where
- 4 sites in United States
- Volunteers
- 646 people
- Sponsor
- Mathew S. Maurer, MD
Lung Cancer
Real World Utilization and Outcomes With Dacomitinib First Line Treatment for EGFR Mutation-positive Advanced Non Small Cell Lung Cancer Among Asian Patients - A Multi Center Chart Review
This is a longitudinal, consecutive case-series, multi-center study with mixed prospective and retrospective data collection. Data will be collected from eligible adults with EGFR mutation-positive advanced non-small cell lung…
- Trial name
- NCT04609319
- Testing
- Dacomitinib
- Where
- 14 sites in China, India and 1 more
- Volunteers
- 307 people
- Sponsor
- Pfizer
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- ACT DMD (NCT01826487)
- Testing
- Ataluren
- Where
- 55 sites in United States, Australia and 16 more
- Volunteers
- 230 people
- Sponsor
- PTC Therapeutics
Leukemia
Sorafenib Plus 5-Azacitidine Initial Therapy of Patients With Acute Myeloid Leukemia (AML) and High Risk Myelodysplastic Syndrome (MS) With FLT3-ITD Mutation
The goal of this clinical research study is to learn if 5-azacitidine and sorafenib can help to control the disease in patients with Acute Myeloid Leukemia (AML) and high risk Myelodisplastic Syndrome (MDS) with FLT3-ITD…
- Trial name
- NCT02196857
- Testing
- Azacytidine, Sorafenib
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- M.D. Anderson Cancer Center
Advanced Malignant Neoplasm, Locally Advanced Malignant Neoplasm
Pre-Test Genetic Education and Remote Genetic Counseling in Communicating Tumor Profiling Results to Patients With Advanced Cancer
This research trial studies how well pre-test genetic education and remote genetic counseling works in communicating tumor profiling results to patients with advanced cancer.
- Trial name
- NCT02823652
- Testing
- standard genetic education, Genetic Counseling, Genetic Testing
- Where
- United States
- Volunteers
- 601 people
- Sponsor
- ECOG-ACRIN Cancer Research Group
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of Long Term Treatment With VX-661 in Combination With Ivacaftor in Participants With Cystic Fibrosis Who Have an F508del-CFTR Mutation
This is a Phase 3, multicenter, open-label, 3-part rollover study in subjects with CF who are homozygous or heterozygous for the F508del-CFTR mutation and who participated in studies VX13-661-103 (Study 103, NCT02070744)…
- Trial name
- NCT02565914
- Testing
- TEZ/IVA, IVA
- Where
- 154 sites in United States, Australia and 14 more
- Volunteers
- 1,131 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Advanced Breast Cancer, HER2/Neu Negative
Phase II Trial of Talazoparib in BRCA1/2 Wild-type HER2-negative Breast Cancer and Other Solid Tumors
The aim of this single-arm phase 2 clinical trial is to evaluate the anti-cancer activity of Talazoparib (also known as BMN 673) in patients with advanced breast cancer with specific genetic or tumor genomic alterations.
- Conditions
- Advanced Breast Cancer, HER2/Neu Negative, Triple-Negative Breast Cancer
- Trial name
- NCT02401347
- Testing
- Talazoparib Tosylate
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Melinda Telli
Primary Ciliary Dyskinesia
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects.
- Trial name
- NCT04901715
- Testing
- Albuterol, Technetium99m - Sulfur Colloid (Tc99m-SC)
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Multiple Myeloma, Neoplasms
A Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Cancers
This open-label, multi-center study will assess the efficacy and safety of vemurafenib in participants with BRAF V600 mutation-positive cancers (solid tumors and multiple myeloma, except melanoma and papillary thyroid cancer) and…
- Trial name
- NCT01524978
- Testing
- cetuximab, vemurafenib
- Where
- 34 sites in United States, China and 4 more
- Volunteers
- 208 people
- Sponsor
- Hoffmann-La Roche
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Non-Hodgkin Lymphoma
Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well samotolisib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with TSC or PI3K/MTOR mutations that have spread to other places in the…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Non-Hodgkin Lymphoma, Ann Arbor Stage IV Non-Hodgkin Lymphoma, Malignant Glioma
- Trial name
- NCT03213678
- Testing
- Biospecimen Collection, Computed Tomography, FDG-Positron Emission Tomography
- Where
- 127 sites in United States, Puerto Rico
- Volunteers
- 18 people
- Sponsor
- National Cancer Institute (NCI)
Leber's Congenital Amaurosis
Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.
- Trial name
- NCT03140969
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 11 people
- Sponsor
- Laboratoires Thea
Solid Tumor
Phase 1/2 Study of Derazantinib (ARQ 087) in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations
This was an open-label, Phase 1/2, dose escalation and signal finding study of derazantinib administered to patients with advanced solid tumors (Part 1; Dose Escalation/Food-effect Cohorts) or with advanced solid tumors with FGFR…
- Trial name
- NCT01752920
- Testing
- Derazantinib low dose range, Derazantinib middle dose range, Derazantinib high dose range
- Where
- 12 sites in United States, Italy
- Volunteers
- 119 people
- Sponsor
- Basilea Pharmaceutica
Cancer, Skin Fibroblasts
Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome
Background: Nicotinamide riboside (NR) is a vitamin B3 dietary supplement. It may help improve muscle function, that may in turn may improve a person s exercise capacity.
- Conditions
- Cancer, Skin Fibroblasts, Muscle Weakness
- Trial name
- NCT03789175
- Testing
- Nicotinamide Riboside (NR)
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia: A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation
The purpose of this study is to assess the safety, tolerability, biomarker, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT06424236)
- Testing
- Gantenerumab
- Where
- 17 sites in United States, Australia and 4 more
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
BRAF V600E Mutation
Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease
Erdheim-Chester Diseases (ECD) is a very rare non-Langerhans cell histiocytosis of unknown origin and pathogenesis. It has been reported mainly in adult males over the age of 40 years, although cases have been reported in females…
- Trial name
- NCT02281760
- Testing
- Dabrafenib Mesylate, Trametinib Dimethyl Sulfoxide
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Ovarian Carcinoma, Breast Cancer
Phase II Study of AZD2281 in Patients With Known BRCA Mutation Status or Recurrent High Grade Ovarian Cancer or Patients With Known BRCA Mutation Status/ Triple Neg Breast Cancer
This is a Phase II, open label, non randomized correlative study of AZD2281 in patients with recurrent breast and ovarian cancer in both BRCA inherited mutation carriers and non-carriers to identify objective response rate and to…
- Trial name
- NCT00679783
- Testing
- AZD2281
- Where
- 6 sites in Canada
- Volunteers
- 99 people
- Sponsor
- AstraZeneca
Uterine Neoplasms, Uterine Cervical Neoplasms
Basket Study of Tucatinib and Trastuzumab in Solid Tumors With HER2 Alterations
This trial studies how well tucatinib works for solid tumors that make either more HER2 or a different type of HER2 than usual (HER2 alterations) The solid tumors studied in this trial have either spread to other parts of the…
- Conditions
- Uterine Neoplasms, Uterine Cervical Neoplasms, Biliary Tract Neoplasms, Urologic Neoplasms
- Trial name
- NCT04579380
- Testing
- tucatinib, trastuzumab, fulvestrant
- Where
- 108 sites in United States, Belgium and 6 more
- Volunteers
- 217 people
- Sponsor
- Seagen, a wholly owned subsidiary of Pfizer