Clinical trials: Mutation Abnormality
- Condition Mutation Abnormality
- Funder type Industry (pharma, biotech, devices)
- Accepts healthy volunteers yes
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
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
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn How BAY2927088 is Taken up and Handled by the Body in Healthy Male Participants
Researchers are looking for a better way to treat men who have advanced non-small cell lung cancer (NSCLC). NSCLC is a group of lung cancers that have spread to nearby tissues or to other parts of the body.
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06221475
- Testing
- BAY2927088 coated tablet 10 mg, [14C]-BAY2927088 solution for infusion, [14C]-BAY2927088 oral solution
- Where
- Netherlands
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Bayer
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
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 Adult Subjects
Phase 1 Multiple Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03309605
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
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.
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
Adnexal Mass, Germline BRCA1 Gene Mutation
Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection
The objective of this project is to validate a next-generation assay that utilizes both the protein biomarkers of our already established ovarian cancer risk assessment combined with a molecular profile in both germline and early…
- Conditions
- Adnexal Mass, Germline BRCA1 Gene Mutation, Germline BRCA2 Gene Mutation, Hereditary Breast and Ovarian Cancer
- Trial name
- OVA360 (NCT04668521)
- Testing
- OVA360
- Where
- United States
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- Aspira Women's Health
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How Itraconazole and Carbamazepine Affect the Level of BAY2927088 in the Blood When These Drugs Are Taken Together by 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 EGFR and HER2 mutations.
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06348888
- Testing
- BAY2927088, Itraconazole, Carbamazepine
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Bayer
MELAS Syndrome, Mitochondrial Respiratory Chain Deficiencies
Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers
The purpose of this First In Human study is to investigate the safety and tolerability of KL1333 after a single oral dose and to investigate the pharmacokinetic characteristics of KL1333 after a single oral dose.
- Trial name
- NCT03056209
- Testing
- KL1333 25 mg, KL1333 50 mg, KL1333 100 mg
- Where
- South Korea
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Yungjin Pharm. Co., Ltd.
Melanoma, BRAF V600 Mutation
Relative Bioavailability of 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
- NCT05103891
- Testing
- Binimetinib Oral Tablet
- Where
- France
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
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
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.
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
- Zhongmou Therapeutics
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.
Xanthomatosis, Cerebrotendinous
A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)
This is a prospective, non-drug epidemological cohort study aimed to investigate the relatives of these cases with CTX-specific gene mutation and clinical features of CTX disease over CTX index cases diagnosed with CTX disease…
- Trial name
- F-GENE (NCT04218006)
- Testing
- Mutation Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- TRPHARM
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
Patients With Parkinson's Disease (PD) Caused by the p.Gly2019Ser (G2019S) Pathogenic Mutation of the Leucine-Rich Repeat Kinase 2 (LRRK2) Gene
A Natural History Study of Patients With G2019S LRRK2 Parkinson's Disease
To characterize using a participant centered decentralized (at home) study featuring wearable technology and telemedicine to study disease change over time in patients with PD caused by the G2019S mutation in the LRRK2 gene and…
- Trial name
- NCT05349019
- Testing
- Observational
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Escape Bio, 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