Clinical trials: Gene Mutations
Urea Cycle Disorders
Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function
This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle…
- Trial name
- NCT01549015
- Testing
- oral administration of Sodium [1,2-13C]-Acetate
- Where
- 4 sites in Germany
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
NSCLC (Non-small Cell Lung Cancer), Thyroid Cancer
Pralsetinib DDI Study in Patients With Advanced or Metastatic Solid Tumors
An open-label drug-drug interaction study to evaluate the effects of pralsetinib (Gavreto) on the pharmacokinetics of a CYP450 probe substrate cocktail and, in female participants, a hormonal probe substrate, in participants with…
- Conditions
- NSCLC (Non-small Cell Lung Cancer), Thyroid Cancer, Solid Tumor Malignancies, Advanced Malignancies
- Trial name
- NCT07704658
- Testing
- Pralsetinib, CYP3A4, CYP2C8, and CYP2C9 substrates, and hormonal contraceptive
- Where
- 2 sites in Spain
- Volunteers
- 12 people
- Sponsor
- Rigel Pharmaceuticals
Autosomal Dominant Retinitis Pigmentosa, Eye Diseases
A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses.
- Conditions
- Autosomal Dominant Retinitis Pigmentosa, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies
- Trial name
- AURORA (NCT04123626)
- Testing
- QR-1123
- Where
- 5 sites in United States
- Volunteers
- 11 people
- Sponsor
- ProQR Therapeutics
Nonsmall-cell Lung Cancer
Assessing an Oral EGFR Inhibitor, DZD6008 in Patients Who Have Advanced NSCLC With EGFR Mutations (TIAN-SHAN2)
This study is designed to evaluate safety and antitumor activity of DZD6008 in patients with advanced NSCLC with EGFR mutations. This is the first time the drug is tested in human.
- Trial name
- NCT06813365
- Testing
- DZD6008
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Dizal Pharmaceuticals
Chronic Myeloid Leukemia, Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Study to Evaluate Tolerability, Safety, Pharmacokinetics and Preliminary Efficacy of PF-114 for Oral Administration in Adults With Ph+ Chronic Myeloid Leukemia, Which is Resistant to the 2-nd Generation Bcr-Abl Inhibitors or Has T315I Mutation in the BCR-ABL Gene
A multicenter, open label cohort Phase 1 dose finding study to evaluate tolerability, safety, pharmacokinetics and preliminary efficacy of PF-114 for oral administration in adult patients with Philadelphia chromosome positive…
- Trial name
- NCT02885766
- Testing
- PF-114
- Where
- 3 sites in Russia
- Volunteers
- 65 people
- Sponsor
- Fusion Pharma LLC
Carcinoma, Non-Small-Cell Lung
An Expanded Access Protocol for Mobocertinib in Refractory Non-small Cell Lung Cancer (NSCLC) Participants With Epidermal Growth Factor Receptor (EGFR) Exon20 Insertion Mutations
The purpose of this study is to provide expanded compassionate use access to mobocertinib, in participants with locally advanced or metastatic NSCLC harboring EGFR in-frame exon 20 insertion mutations and who have received at…
- Trial name
- NCT04535557
- Testing
- Mobocertinib 160 mg
- Sponsor
- Millennium Pharmaceuticals, Inc.
Solid Tumor
A Study of BDTX-189, an Orally Available Allosteric ErbB Inhibitor, in Patients With Advanced Solid Tumors.
This was a clinical study with an orally administered drug, BDTX-189 in participants with advanced solid tumors that had select mutations or alterations in human epidermal growth factor receptor 2 (HER2/ErbB2) genes or epidermal…
- Trial name
- MasterKey-01 (NCT04209465)
- Testing
- BDTX-189
- Where
- 38 sites in United States, Denmark and 2 more
- Volunteers
- 91 people
- Sponsor
- Black Diamond Therapeutics, Inc.
Non-GCB/ABC Diffuse Large B-Cell Lymphoma, With and Without MyD88 and/or CD79B Mutations
Study of Mivavotinib (CB-659) in Relapsed/Refractory Diffuse Large B-Cell Lymphoma (DLBCL)
Study CX-659-401 is a multicenter, open-label, phase 2 study of mivavotinib to evaluate the single-agent activity of mivavotinib in patients with relapsed/refractory non-GCB/ABC DLBCL, incorporating ctDNA-based next-generation…
- Trial name
- NCT05319028
- Testing
- Mivavotinib
- Where
- 7 sites in United States
- Volunteers
- 2 people
- Sponsor
- Calithera Biosciences, Inc
Leber Congenital Amaurosis 10, Blindness
An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
PQ-110-005 (BRIGHTEN) is an open-label, dose escalation and double-masked, randomized, controlled study evaluating safety and tolerability of sepofarsen administered via intravitreal (IVT) injection in pediatric subjects (<8…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- BRIGHTEN (NCT04855045)
- Testing
- sepofarsen
- Where
- 9 sites in Belgium, Brazil and 5 more
- Volunteers
- 15 people
- Sponsor
- ProQR Therapeutics
Leber Congenital Amaurosis, LCA
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
Primary Objective: To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate…
- Conditions
- Leber Congenital Amaurosis, LCA, LCA1
- Trial name
- NCT03920007
- Testing
- ATSN-101, ATSN-101 Diluent Solution, Prednisone
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- Atsena Therapeutics Inc.
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
Non-small Cell Lung Cancer (NSCLC), Epidermal Growth Factor Receptor (EGFR) Mutations
A Study of ASP8273 in Subjects With Non-small Cell Lung Cancer (NSCLC) Harboring Epidermal Growth Factor Receptor (EGFR) Mutations
The objective of this study is to evaluate the bioequivalence of a tablet formulation versus a capsule formulation of ASP8273 following a single dose under fasted condition in subjects with non-small cell lung cancer (NSCLC)…
- Trial name
- NCT03082300
- Testing
- naquotinib
- Where
- 3 sites in United States
- Volunteers
- 3 people
- Sponsor
- Astellas Pharma Global Development, Inc.
Solid Tumors
JSI-1187-01 Monotherapy and in Combination With Dabrafenib for Advanced Solid Tumors With MAPK Pathway Mutations
This is a Phase 1 study of JSI-1187 as monotherapy and in combination with dabrafenib for the treatment of advanced solid tumors with MAPK pathway mutations, including mutations that cause MAPK pathway hyperactivation.
- Trial name
- NCT04418167
- Testing
- JSI-1187, Dabrafenib
- Where
- 7 sites in United States
- Volunteers
- 71 people
- Sponsor
- JS InnoPharm, LLC
Metastatic Pancreatic Ductal Adenocarcinoma
Study of JAB-23E73 in Combination With Chemotherapy in Participants With Metastatic PDAC Harboring KRAS Gene Alterations
The purpose of this study is to determine the safety and efficacy of pan KRAS inhibitor JAB-23E73 in combination with nab-paclitaxel and gemcitabine in participants with metastatic PDAC harboring KRAS gene alterations.
- Trial name
- NCT07640295
- Testing
- JAB-23E73 tablet，nab-paclitaxel，gemcitabine
- Where
- 13 sites in China
- Volunteers
- 80 people
- Sponsor
- Jacobio Pharmaceuticals Co., Ltd.
Acute Myeloid Leukemia, Mixed Lineage Leukemia Gene Mutation
A Study to Investigate the Safety and Tolerability of Ziftomenib in Combination With Venetoclax/Azacitidine, Venetoclax, 7+3, or 7+3+Quizartinib in Patients With AML
Ziftomenib is an investigational drug in development for the treatment of patients with acute myeloid leukemia (AML) with certain genetic alterations.
- Conditions
- Acute Myeloid Leukemia, Mixed Lineage Leukemia Gene Mutation, Refractory AML, AML With Mutated NPM1
- Trial name
- NCT05735184
- Testing
- Ziftomenib, Venetoclax, Azacitidine
- Where
- 44 sites in United States
- Volunteers
- 420 people
- Sponsor
- Kura Oncology, Inc.
Solid Tumors With Documented BRCA, BARD, or PALB or Other Acceptable DNA Mutations or Anomalies That Are Scientifically Sound, Triple Negative Breast Cancer (TNBC)
Expanded Access to Veliparib
This is an expanded access program (EAP) for eligible participants. This program is designed to provide access to veliparib prior to approval by the local regulatory agency. Availability will depend on territory eligibility.
- Conditions
- Solid Tumors With Documented BRCA, BARD, or PALB or Other Acceptable DNA Mutations or Anomalies That Are Scientifically Sound, Triple Negative Breast Cancer (TNBC), High Grade Serous Ovarian Cancer, Patients Requiring Veliparib Suspension Formulation
- Trial name
- NCT03123211
- Testing
- Veliparib
- Sponsor
- AbbVie
Solid Tumors
Study of RXDX-105, Potent RET Inhibitor in Patients With Advanced Lung Cancer and Other Solid Tumors
This is a first-in-human, multicenter, open-label study consisting of 2 phases. Phase 1 is a dose escalation study of RXDX-105 (formerly known as CEP-32496) in patients with advanced solid tumors aimed at defining the recommended…
- Trial name
- NCT01877811
- Testing
- RXDX-105
- Where
- 14 sites in United States
- Volunteers
- 143 people
- Sponsor
- Hoffmann-La Roche
Non-Small Cell Lung Cancer
Study of Oral EGFR Inhibitor DZD6008 Combined With Sunvozertinib in Patients Who Have Advanced NSCLC With EGFR Mutations (TIAN-SHAN8)
This study will treat patients with advanced NSCLC harboring EGFR mutations. This is the first study to test DZD6008 combined with sunvozertinib in patients, which will help to understand what type of side effects with the…
- Trial name
- NCT07079475
- Testing
- DZD6008, Sunvozertinib, Osimertinib
- Where
- 14 sites in China
- Volunteers
- 220 people
- Sponsor
- Dizal Pharmaceuticals
Hormone Receptor-Positive, HER2-Negative Metastatic Breast Cancer, Metastatic Cervical Cancer
HER-Seq: A Blood-based Screening Study to Identify Patients With HER2 Mutations for Enrollment Into Clinical Research Studies of Neratinib
This is a multi-center, observational genomic screening protocol to identify participants whose tumors harbor somatic mutations in the ERBB2 (HER2) gene, as measured in circulating tumor DNA (ctDNA) .
- Trial name
- NCT03786107
- Testing
- Almac HER-Seq Assay
- Where
- 22 sites in United States, France and 5 more
- Volunteers
- 1,583 people
- Sponsor
- Puma Biotechnology, Inc.
Polycythemia Vera (PV), Myelofibrosis (MF)
Study of ZE74-0282 for Patients With JAK2 V617F Positive Blood Cancers
This study will test an experimental drug called ZE74-0282 in people with certain blood disorders caused by a specific mutation called JAK2 V617F.
- Trial name
- NCT07529951
- Testing
- ZE74-0282
- Volunteers
- 60 people
- Sponsor
- Eilean Therapeutics