Clinical trials: Gene Mutations
Monogenic Obesity
A Study Evaluating Mibavademab Treatment of Obesity Due to Leptin (LEP) Gene Mutations in Children, Adolescents and Adults
This study is researching an experimental drug called mibavademab. The study is focused on patients with a condition called monogenic obesity.
- Trial name
- NCT07220772
- Testing
- Mibavademab
- Where
- 3 sites in Germany, Turkey (Türkiye)
- Volunteers
- 4 people
- Sponsor
- Regeneron Pharmaceuticals
NUT Midline Carcinoma, Triple Negative Breast Cancer
A Dose-Finding Study of Birabresib (MK-8628), a Small Molecule Inhibitor of the Bromodomain and Extra-Terminal (BET) Proteins, in Adults With Selected Advanced Solid Tumors (MK-8628-003)
Open-label, phase I, non-randomized, multicentric study of single-agent birabresib (MK-8628) (formerly known as OTX015) administered according to two distinct regimens to participants with selected advanced tumors.
- Conditions
- NUT Midline Carcinoma, Triple Negative Breast Cancer, Non-small Cell Lung Cancer With Rearranged ALK Gene/Fusion Protein or KRAS Mutation, Castrate-resistant Prostate Cancer
- Trial name
- NCT02259114
- Testing
- Birabresib
- Volunteers
- 47 people
- Sponsor
- Oncoethix GmbH, a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)
Methylmalonic Acidemia
Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
The SUNRISE trial is a first-in-human (FIH), open-label, Phase 1/2 clinical trial designed to assess the safety, tolerability and preliminary efficacy of a single intravenous infusion of hLB-001 in pediatric patients with MMA…
- Trial name
- SUNRISE (NCT04581785)
- Testing
- hLB-001
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- LogicBio Therapeutics, Inc
EGFR Gene Mutation
Clinical Trial of YH25448 in Patients with EGFR Mutation Positive Advanced NSCLC
YH25448 is an oral, highly potent, mutant-selective and irreversible EGFR Tyrosine-kinase inhibitors (TKIs) targets both the T790M mutation and activating EGFR mutations while sparing wild type-EGFR.
- Trial name
- NCT03046992
- Testing
- YH25448
- Where
- 16 sites in South Korea
- Volunteers
- 224 people
- Sponsor
- Yuhan Corporation
Locally Advanced Cholangiocarcinoma, Intrahepatic Cholangiocarcinoma
Safety and Anti-Tumor Activity of TYRA-200 in Advanced Cholangiocarcinoma With Activating FGFR2 Gene Alterations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary antitumor activity of TYRA-200 in cancers with FGFR2 activating gene alterations, including unresectable locally…
- Conditions
- Locally Advanced Cholangiocarcinoma, Intrahepatic Cholangiocarcinoma, Solid Tumor, Metastatic Cholangiocarcinoma
- Trial name
- SURF201 (NCT06160752)
- Testing
- Phase 1 Part A - dose escalation TYRA-200 taken once daily by mouth in 28-day cycles, Phase 1 Part B - dose expansion TYRA-200 taken once daily by mouth in 28-day cycles
- Where
- 4 sites in United States
- Volunteers
- 40 people
- Sponsor
- Tyra Biosciences, Inc
Lung Neoplasm Malignant
A Clinical Study of MK-1084 With Other Treatments for Non-small Cell Lung Cancer (MK-3475-01F)
Researchers want to learn if MK-1084, the study medicine, can treat advanced or metastatic non-squamous NSCLC. MK-1084 is a targeted therapy, which is a treatment that works to control how specific types of cancer cells grow and…
- Trial name
- NCT07286149
- Testing
- MK-1084, Patritumab deruxtecan, Sacituzumab tirumotecan
- Where
- 29 sites in United States, Brazil and 9 more
- Volunteers
- 140 people
- Sponsor
- Merck Sharp & Dohme LLC
Non-small Cell Lung Cancer, Colorectal Carcinoma
Phase 1 Study to Investigate TCRTs KRAS Mutation in Unresectable, Advanced, and/or Metastatic Solid Tumors
Phase I Study, a master protocol to investigate TCR-Engineered T cells recognizing KRAS mutations in adult subjects with Unresectable, Advanced, and/or Metastatic Solid Tumors.
- Conditions
- Non-small Cell Lung Cancer, Colorectal Carcinoma, Pancreatic Ductal Adenocarcinoma, Endometrial Cancer
- Trial name
- NCT06218914
- Testing
- NT-112: Autologous, engineered T Cells targeting KRAS G12D, AZD0240: Autologous, engineered T Cells targeting KRAS G12D
- Where
- 18 sites in United States
- Volunteers
- 108 people
- Sponsor
- AstraZeneca
Breast Cancer
Phase I Study of the HS-10352 in Patients With Advanced Breast Cancer
HS-10352 is a highly potent and selective small molecule inhibitor of phosphoinositide 3-kinase (p110α). In preclinical studies, it demonstrated strong activity against PI3K p110α in vitro and in vivo, and inhibited tumor cell…
- Trial name
- NCT04631835
- Testing
- HS-10352
- Where
- 3 sites in China
- Volunteers
- 54 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Detection and Genotyping of Factor V and Factor II Point Mutations
Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA
As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites.
- Trial name
- NCT00959504
- Volunteers
- 275 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations
The purpose of this study is: to evaluate the safety of oral QLT091001 to evaluate whether 7-day treatment with oral QLT091001 can improve visual function in subjects with LCA or RP due to RPE65 or LRAT mutations to evaluate…
- Trial name
- NCT01014052
- Testing
- QLT091001
- Where
- 7 sites in United States, Canada and 3 more
- Volunteers
- 32 people
- Sponsor
- QLT Inc.
Lung Neoplasms
DeniLA: Comprehensive Demographics and Clinical Profile of NSCLC Patients: Analyzing Guideline-Concordant Care in First-line Treatment Patterns
This is a prospective, observational, multicenter study, in which clinical and demographic data will be extracted from medical records.
- Trial name
- DeniLA (NCT07109154)
- Where
- 7 sites in Brazil
- Volunteers
- 200 people
- Sponsor
- AstraZeneca
Thalassemia
iHSCs With the Gene Correction of HBB Intervent Subjests With β-thalassemia Mutations
This is a single centre、single arm、open-label study，to investigate the safety and efficacy of the gene correction of HBB in patient-specific iHSCs using CRISPR/Cas9.
- Trial name
- NCT03728322
- Testing
- iHSCs treatment group
- Volunteers
- 12 people
- Sponsor
- Allife Medical Science and Technology Co., Ltd.
RET-fusion Non Small Cell Lung Cancer, Lung Neoplasm
A Study of Pralsetinib Versus Standard of Care for First-Line Treatment of Advanced Non-Small Cell Lung Cancer (NSCLC)
This is an international, randomized, open-label, Phase 3 study designed to evaluate whether the potent and selective RET inhibitor, pralsetinib, improves outcomes when compared to a platinum chemotherapy-based regimen chosen by…
- Conditions
- RET-fusion Non Small Cell Lung Cancer, Lung Neoplasm, Carcinoma, Non-Small-Cell Lung, Respiratory Tract Neoplasms
- Trial name
- AcceleRET-Lung (NCT04222972)
- Testing
- Pralsetinib, Carboplatin, Cisplatin
- Where
- 74 sites in Argentina, Australia and 20 more
- Volunteers
- 223 people
- Sponsor
- Hoffmann-La Roche
Non Small Cell Lung Cancer
Prospective Cohort of Locally Advanced and Metastatic Non-Small Cell Lung Cancer Patients With Activating EGFR Mutations
This is an observational multicenter study. A cross-sectional descriptive study of patients with locally advanced or metastatic Non Small Cell Lung Cancer with activating EGFR mutation treated by any first line therapy will be…
- Trial name
- POSITHES (NCT05103605)
- Testing
- Osimertinib
- Where
- 46 sites in France
- Volunteers
- 274 people
- Sponsor
- AstraZeneca
Breast Neoplasms, Gastric Neoplasm
A Dose-escalation, Expansion Study of ARX788, in Advanced Solid Tumors Subjects With HER2 Expression (ACE-Pan Tumor 01)
This 2-part, Phase 1, open-label study will determine the recommended Phase 2 dose (RP2D) of ARX788 in subjects with advanced HER2 positive cancers and will assess the safety and anticancer activity in breast, gastric and other…
- Conditions
- Breast Neoplasms, Gastric Neoplasm, Solid Tumors
- Trial name
- NCT03255070
- Testing
- ARX788
- Where
- 12 sites in United States, Australia
- Volunteers
- 106 people
- Sponsor
- Ambrx, Inc.
Non-Small Cell Lung Cancer
An epidemiOlogy Study to deteRmine the Prevalence of EGFR (Epidermal Growth Factor Receptor) muTations in RUSsian Patients With Advanced NSCLC (Non-Small Cell Lung Cancer).
This is a multicentre, non-interventional, prospective study to be carried out in representative oncology departments / institutions in order to determine the prevalence of EGFR mutations in treatment-naive Russian patients with…
- Trial name
- ORTUS (NCT02321046)
- Where
- 26 sites in Russia
- Volunteers
- 26 people
- Sponsor
- AstraZeneca
Non-Small Cell Lung Cancer (NSCLC)
Study to Evaluate the Efficacy and Safety of Pemigatinib in Participants With Relapsed or Refractory Advanced Non-Small Cell Lung Cancer With an FGFR Alteration
This is an open-label, single arm study to study the safety, efficacy and tolerability of Pemigatinib when used on participants with squamous or nonsquamous NSCLC with a documented FGFR1-3 mutations or fusions/rearrangement who…
- Trial name
- FIGHT-210 (NCT05253807)
- Testing
- Pemigatinib
- Where
- 36 sites in United States, France and 3 more
- Volunteers
- 8 people
- Sponsor
- Incyte Corporation
Non-Small Cell Lung Cancer
A Study of TAS3351 in NSCLC Patients With EGFRmt
This is a first-in-human, open label, Phase 1/2 study to investigate the safety and efficacy of TAS3351 in participants with advanced or metastatic non-small cell lung cancer (NSCLC) harboring an acquired C797S epidermal growth…
- Trial name
- TAS3351 (NCT05765734)
- Testing
- TAS3351
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 18 people
- Sponsor
- Taiho Oncology, Inc.
X-linked Hypophosphatemia
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
A first-in-human study of KK8123 in adults with X-linked hypophosphatemia.
- Trial name
- NCT06525636
- Testing
- KK8123
- Where
- 10 sites in United States, Canada and 3 more
- Volunteers
- 39 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Muscular Dystrophy, Duchenne
A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)
Part 1 (dose escalation) will evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram [mg/kg] and 200 mg/kg) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will…
- Trial name
- MIS51ON (NCT03992430)
- Testing
- Eteplirsen
- Where
- 59 sites in United States, Colombia and 24 more
- Volunteers
- 160 people
- Sponsor
- Sarepta Therapeutics, Inc.