Clinical trials: Genetic Mutation
- Condition Genetic Mutation
- Funder type Industry (pharma, biotech, devices)
- Accepts healthy volunteers yes
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How Food and Esomeprazole Affect the Level of BAY2927088 in the Blood When Taken Together in Healthy Participants
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor…
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06378658
- Testing
- BAY2927088, Esomeprazole, Food
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Bayer
Acute Myeloid Leukemia With FLT3/ITD Mutation
A Study to Evaluate the Effect of XY0206 on the QTc Interval in Chinese Healthy Participants
This study plans to enroll 45 (Groups A, B, and C) to 75 healthy participants (including the sample size of other potential dose groups). The participants will be divided into three dose groups: 37.5 mg, 75 mg, and 150 mg.
- Trial name
- XY0206-CQT (NCT07162116)
- Testing
- XY0206, Moxifloxacin (400 mg)
- Where
- China
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Shijiazhuang Yiling Pharmaceutical Co. Ltd
Genetic Disease, Nonsense Mutation
Phase 1 Study of ELX-02 in Healthy Adults
Phase 1 Single Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03292302
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Urothelial Carcinoma, Bladder Cancer
Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for the Detection of Urothelial Carcinoma
Clinical trial to evaluate the performance characteristics(sensitivity and specificity) of AnchorDx's urine DNA methylation/somatic mutation profiling assay for detecting urothelial carcinoma compared to pathology in patients.
- Trial name
- NCT04314245
- Testing
- Active Comparator: Pathology, Active Comparator: Clinical Diagnosis, Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay
- Where
- China
- Volunteers
- 1,170 people, healthy volunteers welcome
- Sponsor
- AnchorDx Medical Co., Ltd.
Factor V Leiden, Prothrombin G20210A
A Single Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of CITY-FXI in Healthy Adults, Adults With FV Leiden or Prothrombin G20210A Mutation, and Adults With a History of Provoked Venous Thromboembolism
This is a first-in-human (FIH), single-center, randomized, double-blind, placebo-controlled, single ascending and multiple dose study evaluating the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of…
- Conditions
- Factor V Leiden, Prothrombin G20210A, Venous Thromboembolism (VTE)
- Trial name
- NCT07430397
- Testing
- CITY-FXI
- Where
- United Kingdom
- Volunteers
- 182 people, healthy volunteers welcome
- Sponsor
- City Therapeutics
Healthy, Frontotemporal Dementia
A First in Human Study in Healthy Volunteers and in Participants With Frontotemporal Dementia With Granulin (GRN) Mutation
A first in human phase 1 study in healthy volunteers and participants with Granulin (GRN) mutation causative of frontotemporal dementia (FTD) to assess AL001 safety, tolerability, pharmacokinetics, and pharmacodynamics
- Trial name
- NCT03636204
- Testing
- AL001
- Where
- 8 sites in United States, Canada and 1 more
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Alector Inc.
Healthy Volunteers
A Study to Investigate the Effects of Acid Reducing Agents on Pharmacokinetics of PC14586 in Healthy Participants
This study will assess the effect of a Proton Pump Inhibitor (PPI) (rabeprazole) on the pharmacokinetics (PK) of PC14586 and the effect of an H2-receptor antagonist (famotidine) on the PK of PC14586
- Trial name
- NCT06054464
- Testing
- PC14586, Rabeprazole, Famotidine
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- PMV Pharmaceuticals, Inc
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Melanoma, BRAF V600 Mutation
Bioequivalence Binimetinib 3 x 15 mg and 45 mg Formulations
The current commercially available MEKTOVI® (binimetinib) 15 mg tablets are provided as immediate release film-coated tablets for oral administration.
- Conditions
- Melanoma, BRAF V600 Mutation, Unresectable Melanoma, Metastatic Melanoma
- Trial name
- NCT05810740
- Testing
- Binimetinib 15 MG, Binimetinib 45 MG
- Where
- France
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
Romano-Ward Syndrome, Long QT Syndrome
Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients.
The objectives of the study are to investigate if KCNQ1 mutation in Romano-Ward long QT patients can be associated with changes in insulin regulation and with psychological features of compulsivity, impulsivity and behavioural…
- Conditions
- Romano-Ward Syndrome, Long QT Syndrome, Compulsive Behavior, Healthy Individuals
- Trial name
- PRIME (NCT04715256)
- Testing
- Cognitive assessment of obsessive-compulsive and impulsive behaviours, Genomic analysis, Glucoregulation assessment
- Where
- 2 sites in France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Biotrial
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How BAY2927088 Affects the Level of Dabigatran or Rosuvastatin in the Blood When These Drugs Are Taken Together in Healthy Participants
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor…
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06329895
- Testing
- BAY2927088, Dabigatran etexilate, Rosuvastatin
- Where
- United Kingdom
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Bayer
Carcinoma, Non-Small-Cell Lung
Detection of Either the EML4-ALK Gene Rearrangements or the T790M EGFR Mutation in the Plasma of Advanced NSCLC Patients
Demonstrate feasibility of detection of EML4-ALK fusion transcripts and T790M EGFR mutation from exosomes in the circulation of Non-Small Cell Lung Cancer (NSCLS) patients.
- Trial name
- NCT03236675
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Exosome Diagnostics, Inc.
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
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
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.
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How BAY2927088 Affects the Level of Midazolam in the Blood When Both Drugs Are Taken Together in Healthy Participants
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called Epidermal growth factor receptor (EGFR) and Human epidermal growth factor receptor…
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06360211
- Testing
- BAY2927088, Midazolam
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Bayer
Dementia, Frontotemporal
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VES001 in Healthy Participants
This is a Phase 1, randomized, placebo-controlled, double-blind study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of single and multiple doses of VES001 in a two part followed by a…
- Trial name
- SORT-IN-1 (NCT06226064)
- Testing
- VES001
- Where
- Netherlands
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Vesper Biotechnologies ApS
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Augelux Therapeutics
Mutation, Neoplasms
Utility of Plasma Circulating Tumor DNA (ctDNA) in Asymptomatic Subjects for the Detection of Neoplastic Disease
Pathway Genomics Corporation (Pathway Genomics), a San Diego, California company, is involved in the development and validation of new molecular diagnostic assays for the analysis of circulating tumor deoxyribonucleic acid (DNA)…
- Trial name
- H1000 (NCT02612350)
- Testing
- ctDNA Analysis for the Detection of Genetic Mutations
- Where
- United States
- Volunteers
- 1,106 people, healthy volunteers welcome
- Sponsor
- Pathway Genomics
Parkinson Disease
LRRK2 Mutation and Parkinson's Disease
The Leucine-Rich Repeat Kinase 2 (LRRK2) is implicated in autosomal dominant Parkinson's disease (PKD). An inhibitor for the leucine-rich repeat kinase 2 (LRRK2) is in pre-clinical development for potential use in treating…
- Trial name
- NCT01424475
- Testing
- Healthy, PKD Patients
- Where
- United Kingdom
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline