Clinical trials: Gene Mutations
Chronic Myeloid Leukaemia Recurrent, Chronic Myeloid Leukemia, in Relapse
Myeloid Mutations Register in R/R CML
The aim of the study is to know the percentage of ABL mutations in patients with chronic myeloid leukemia that relapsed or are refractory to tyrosine-kinase inhibitors measured with a myeloid mutations panel by NGS.
- Trial name
- NCT05080829
- Testing
- Myeloid mutations measurement
- Where
- Mexico
- Volunteers
- 29 people
- Sponsor
- Grupo Cooperativo de Hemopatías Malignas
HIV-1 Infection
Safety and Efficacy of Doravirine, Tenofovir, Lamivudine (MK-1439A) in Participants Infected With Treatment-Naïve Human Immunodeficiency Virus (HIV) -1 With Transmitted Resistance (MK-1439A-030)
The primary objectives of this study are to evaluate the antiretroviral activity and the safety/tolerability of open-label doravirine/lamivudine/tenofovir disoproxil fumarate (DOR/3TC/TDF; MK-1439A; DELSTRIGO™) consisting of a…
- Trial name
- DRIVE BEYOND (NCT02629822)
- Testing
- Doravirine/lamivudine/tenofovir disoproxil fumarate
- Volunteers
- 10 people
- Sponsor
- Merck Sharp & Dohme LLC
Non-Small Cell Lung Cancer (NSCLC), Metastatic Non-Small Cell Lung Cancer
Study of Furmonertinib in Patients With Advanced or Metastatic Non-Small Cell Lung Cancer (NSCLC) With Activating, Including Uncommon, Epidermal Growth Factor Receptor (EGFR) or Human Epidermal Growth Factor Receptor 2 (HER2) Mutations
This is a Phase 1b, open-label, multi-center, dose-escalation and dose expansion study designed to evaluate the safety, pharmacokinetics (PK), and preliminary antitumor activity of furmonertinib in patients with advanced or…
- Conditions
- Non-Small Cell Lung Cancer (NSCLC), Metastatic Non-Small Cell Lung Cancer, Advanced Non-Small Cell Lung Cancer, HER2 Exon 20 Mutations
- Trial name
- NCT05364073
- Testing
- Furmonertinib
- Where
- 42 sites in United States, Australia and 9 more
- Volunteers
- 160 people
- Sponsor
- ArriVent BioPharma, Inc.
Bladder Cancer, Urothelial Carcinoma
Biomarker Research Study for Patients With FGFR-Mutant Bladder Cancer Receiving Erdafitinib
Bladder cancers are associated with genetic mutations that are present in the patient's bladder or urothelium, the lining of the lower urinary tract.
- Conditions
- Bladder Cancer, Urothelial Carcinoma, Transitional Cell Carcinoma, Platinum-Resistant Urothelial Carcinoma
- Trial name
- NCT05052372
- Testing
- Balversa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- xCures
Solid Tumors and Hematologic Malignancy, NSCLC (Non-small Cell Lung Carcinoma)
Itacitinib in Combination With Erlotinib in Non Small Cell Lung Cancer Patients With Epidermal Growth Factor Receptor (EGFR) Activating Mutations
The purpose of this study is to determine if Itacitinib in combination with erlotinib is safe and effective in the treatment of nonsquamous non-small cell lung cancer (NSCLC) that is Stage IIIB/Stage IV or recurrent whose tumors…
- Trial name
- NCT02355431
- Testing
- Itacitinib, erlotinib
- Where
- United States
- Sponsor
- Incyte Corporation
Amyotrophic Lateral Sclerosis
Personalized Antisense Oligonucleotide Therapy for A Single Patient With CHCHD10 ALS (nL18576)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with amyotrophic lateral sclerosis (ALS) due to a pathogenic variant in CHCHD10
- Trial name
- NCT07423494
- Testing
- nL-CHCHD-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Genetic Diseases, Nonsense Mutations
Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers
This is the first study in humans of ELX-02, an advanced synthetic aminoglycoside optimized as a translational read-through drug (TRID) for the treatment of genetic conditions caused by nonsense. mutations.
- Trial name
- NCT02807961
- Testing
- ELX-02
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
KRAS Gene Mutation, Metastatic Non-Squamous Non-Small Cell Lung Carcinoma
Pembrolizumab and Trametinib in Treating Patients With Stage IV Non-Small Cell Lung Cancer and KRAS Gene Mutations
This phase Ib trial studies the side effects of pembrolizumab and trametinib in treating patients with non-small cell lung cancer and KRAS gene mutations that has spread to other places in the body.
- Conditions
- KRAS Gene Mutation, Metastatic Non-Squamous Non-Small Cell Lung Carcinoma, Recurrent Non-Squamous Non-Small Cell Lung Carcinoma, Stage IV Non-Small Cell Lung Cancer AJCC v7
- Trial name
- NCT03299088
- Testing
- Pembrolizumab, Trametinib
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Jonathan Riess
BRCA-Mutated Ovarian Carcinoma, BRCA1 Gene Mutation
Olaparib in Treating Patients With Newly Diagnosed BRCA-Mutant Ovarian, Primary Peritoneal, or Fallopian Cancer Before Surgery
This early phase I trial studies how well olaparib works in treating patients with newly diagnosed BRCA-mutant ovarian, primary peritoneal, or fallopian cancer before surgery.
- Conditions
- BRCA-Mutated Ovarian Carcinoma, BRCA1 Gene Mutation, BRCA2 Gene Mutation, High Grade Fallopian Tube Serous Adenocarcinoma
- Trial name
- NCT03943173
- Testing
- Chemotherapy, Olaparib, Therapeutic Conventional Surgery
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- M.D. Anderson Cancer Center
Breast Cancer, Prostate Cancer
AZD5363 in Patients With Advanced Solid Tumors Harboring AKT Mutations
This study will test the recommended dose of AZD5363 (recommended from a previous phase 1 study of the drug) in patients with specific AKT mutations.
- Conditions
- Breast Cancer, Prostate Cancer, Advanced Solid Tumors
- Trial name
- NCT03310541
- Testing
- AZD5363, Enzalutamide, Fulvestrant
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Malignant Melanoma
Comparison of In-House Methods and Cobas BRAF V600 Mutation Assay in Melanoma Tumor Samples
This non-interventional study will compare the Cobas BRAF V600 mutation assay with in-house methods used in molecular laboratories for the assessment of the BRAF mutation status in melanoma tumor samples.
- Trial name
- NCT01744860
- Where
- 12 sites in France
- Volunteers
- 420 people
- Sponsor
- Hoffmann-La Roche
Leukemia
Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
The aim of this study is to look for predisposing mutations in patients and relatives affected by AML and MDS with familial history of myeloid or, less frequently, lymphoid malignancies.
- Trial name
- NCT03058588
- Testing
- Analysis with molecular biology
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Metastatic Prostate Cancer (mPC)
Implementation of a New Algorithm for HRR Gene Mutation Testing in Patients With mPC Through Liquid Biopsy Integration
Implementation of a new algorithm for HRR gene mutation testing in patients with mPC through liquid biopsy integration
- Trial name
- L2-267 (NCT06762379)
- Where
- Italy
- Volunteers
- 125 people
- Sponsor
- European Institute of Oncology
Fabry Disease, Aged 65 Years or Older
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Fabry disease is a rare genetic disorder affecting 1 in 10,000 individuals, leading to complications such as chronic pain, heart and kidney failure, and strokes, ultimately impacting life expectancy.
- Conditions
- Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation
- Trial name
- FABRY65 (NCT07277361)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Wladimir MAUHIN, Dr
Cancer of Ovary, Pancreatic Ductal Adenocarcinoma
Promitil Treatment of Patients With Solid Tumors Associated With Deleterious Mutations Who Have Progressed After Therapy
This multicenter Phase 2a study was designed to evaluate the safety, tolerability, and efficacy of Promitil in patients with recurrent ovarian cancer and inoperable, locally advanced or metastatic pancreatic cancer, which bears…
- Trial name
- NCT06478862
- Testing
- Promitil
- Where
- 6 sites in Israel
- Volunteers
- 19 people
- Sponsor
- Lipomedix Pharmaceuticals Inc.
Dystrophic Epidermolysis Bullosa
Study of PTW-002 in Patients With Dominant or Recessive Dystrophic Epidermolysis Bullosa Due to Mutation(s) in Exon 73 of the COL7A1 Gene
A double-blind, randomized, intra-patient placebo- controlled, multiple dose study of PTW-002 evaluating safety, proof of mechanism, preliminary efficacy, and systemic exposure in patients with Dominant Dystrophic Epidermolysis…
- Trial name
- NCT05529134
- Testing
- PTW-002 10 mg/g gel
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Phoenicis Therapeutics
Metastatic Colorectal Cancer, KRAS Gene Mutation
Expanded Access of Onvansertib With FOLFIRI and Bevacizumab for the Second-Line Treatment of Participants With KRAS-Mutated Metastatic Colorectal Cancer
This is an expanded access program for eligible participants designed to provide access to onvansertib in combination with FOLFIRI and bevacizumab.
- Trial name
- NCT04446793
- Testing
- Onvansertib, Bevacizumab, FOLFIRI
- Sponsor
- Cardiff Oncology
Neutropenia
AMD 3100 for Treatment of Myelokathexis
This is an initial study to determine if CXCR4 inhibitor AMD 3100 or plerixafor may be a potential treatment for neutropenia due to CXCR4 mutations, the myelokathexis or WHIM (warts, hypogammaglobulinemia, immunodeficiency and…
- Trial name
- NCT01058993
- Testing
- AMD3100 or plerixafor
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Washington
Parkinson Disease
High Order Spectral Analysis of Local Field Potential Data on a Subgroup of Parkinson's Disease Patients Who Are Carriers of Mutations in the Glucocerebrosidase (GBA) Gene Undergoing DBS Electrode Placement
The aim is to study a specific group of PD patients, carriers of mutations in the glucocerebrosidase (GBA) gene, which is the most common genetic risk factor for PD and is a harbinger of aggressive cognitive and motor decline.
- Trial name
- NCT04268030
- Testing
- collection of LFPs
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Rush University Medical Center
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