Clinical trials: Gene Mutations
- Condition Gene Mutations
- Funder type Industry (pharma, biotech, devices)
- Accepts healthy volunteers yes
Metastatic Solid Tumors, Advanced Non-squamous Non-small-cell Lung Cancer
A First-in-human Study of BGB-53038, a Pan-KRAS Inhibitor, Alone or in Combinations in Participants With Advanced or Metastatic Solid Tumors With KRAS Mutations or Amplification
This is a first-in-human (FIH), open-label, multicenter, dose escalation and dose expansion study to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics, and preliminary antitumor activity of BGB-53038 as…
- Conditions
- Metastatic Solid Tumors, Advanced Non-squamous Non-small-cell Lung Cancer, Advanced Colorectal Cancer, Advanced Pancreatic Ductal Adenocarcinoma
- Trial name
- NCT06585488
- Testing
- BGB-53038, Tislelizumab, Cetuximab
- Where
- 17 sites in United States, Australia and 3 more
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- BeOne Medicines
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
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
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.
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.
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
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.
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.
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.