Clinical trials: Genetic Mutation
HIV-1-infection, DRM
Primary and Secondary Drug Resistance Mutations (DRMs) in HIV As a Risk Factor of Failure of ART, Including Two Drugs Based Regimens.
The presence of drug resistance mutations (DRMs) in HIV plays an important role in ART effectiveness. Despite very good results of ART, there is constant concern about the emergence of HIV strains with DRMs, what may lead to…
- Conditions
- HIV-1-infection, DRM, DRM Gene Mutation, ART
- Trial name
- NCT06661317
- Testing
- no intervention
- Where
- Poland
- Volunteers
- 200 people
- Sponsor
- Medical University of Warsaw
To Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian Cancer
BRCA1 and BRCA2 Mutation in Romanian Population: a Study of Genotype - Phenotype Correlation at Diagnosis With Prospective Disease Outcome and Survival
Primary objective To determine BRCA1 and BRCA2 variants in 250 Romanian women with breast/ovarian cancer selected for likeliness to harbor germline mutations in these genes by specific criteria for high-risk status including age…
- Trial name
- NCT02317120
- Testing
- NGS BRCA 1 and BRCA 2 full sequencing, Multiplex ligation-dependent probe amplification (MPLA) BRCA1 BRCA2
- Where
- Romania
- Volunteers
- 250 people
- Sponsor
- Alexandru Eniu
Metastatic Colorectal Cancer, mCRC
The Efficacy and Safety of HLX208 in Metastatic Colorectal Cancer (mCRC) With BRAF V600E Mutation
The purpose of this study was to assess efficacy, safety and PK in metastatic colorectal cancer (mCRC) given HLX208 (BRAF V600E inhibitor).
- Trial name
- NCT05127759
- Testing
- HLX208
- Where
- China
- Volunteers
- 25 people
- Sponsor
- Shanghai Henlius Biotech
Mendelian Disorders, Genetic Disorder
Delineation of Novel Monogenic Disorders in the United Arab Emirates Population
The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in…
- Conditions
- Mendelian Disorders, Genetic Disorder, Novel Mutation, Hereditary Disorder
- Trial name
- NCT03589079
- Testing
- Sanger and/or Next Generation Sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 150 people
- Sponsor
- Imperial College London Diabetes Centre
Parkinson Disease, LRRK2
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Trial name
- BioPD (NCT04668898)
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
NSCLC Stage IV, Brain Metastases
Cranial Radiotherapy Plus Chemoimmunotherapy in Untreated Driver-mutation Negative NSCLC With Stable Brain Metastasis
Non-small cell lung cancer (NSCLC), the most prevalent form of lung cancer, has a significant risk of brain metastasis (BM). Historically, the median overall survival for advanced NSCLC patients with BM was under six months with…
- Trial name
- NCT06501391
- Testing
- PD-L1/PD-1 inhibitor and chemotherapy, SRT or WBRT
- Where
- China
- Volunteers
- 54 people
- Sponsor
- Fudan University
Waldenstrom Macroglobulinemia
Efficacy and Safety of Carfilzomib in Combination With Ibrutinib vs Ibrutinib in Waldenström's Macroglobulinemia
In Waldenström macroglobulinemia (WM) chemotherapy induces only low CR/VGPR (Complete Remission/ Very Good Partial Response) rates and responses of short duration compared to other indolent lymphomas.
- Trial name
- CZAR-1 (NCT04263480)
- Testing
- Carfilzomib + Ibrutinib, Ibrutinib
- Where
- 17 sites in Austria, Germany and 1 more
- Volunteers
- 99 people
- Sponsor
- Christian Buske
Gardner Syndrome, Colorectal Carcinoma
A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome
The purpose of this study is to assess the long-term outcome in a cohort of Gardner-Syndrome patients receiving prophylaxis and treatment for intestinal and non-intestinal tumors.
- Conditions
- Gardner Syndrome, Colorectal Carcinoma, Desmoid Tumor
- Trial name
- NCT01286662
- Volunteers
- 105 people
- Sponsor
- Triemli Hospital
Colorectal Cancer
A Single-arm, Single-center, Phase II Clinical Study of Aipalolitovorelizumab (QL1706) Combined With Bevacizumab and Standard Chemotherapy as First-line Treatment for MSS/pMMR Metastatic Colorectal Cancer With BRAF V600E Mutation
This is an open-label, single-arm, single-center phase II clinical study, aiming to investigate the safety and efficacy of Aipalolitovorelizumab (QL1706) combined with bevacizumab plus standard chemotherapy regimen as first-line…
- Trial name
- NCT07229846
- Testing
- Aipalolitovorelizumab, XELOX + Bevacizumab, mFOLFOX + Bevacizumab
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Yanqiao Zhang
Symptomatic, Aggressive, Sporadic, Unresectable, Locally, Advanced/Metastatic Medullary Thyroid Cancer (MTC)
Observational Study to Evaluate Vandetanib in RET -/+ Patients With Metastatic Medullary Thyroid Cancer
This is a European multinational, multicenter, non-interventional (observational) and prospective study. It is carried on to confirm in real life conditions the benefit/risk of vandetanib (CAPRELSA™) 300 mg, both in RET negative…
- Trial name
- Caprelsa104 (NCT01945762)
- Testing
- Vandetanib 300 mg
- Where
- 8 sites in Belgium, France and 6 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
Non-small Cell Lung Cancer
An Open-label Study of Encorafenib + Binimetinib in Patients With BRAFV600-mutant Non-small Cell Lung Cancer
This is an open-label, multicenter, non-randomized, Phase 2 study to determine the safety, tolerability and efficacy of encorafenib given in combination with binimetinib in patients with BRAFV600E-mutant metastatic non-small cell…
- Trial name
- NCT03915951
- Testing
- encorafenib, binimetinib
- Where
- 143 sites in United States, Italy and 3 more
- Volunteers
- 98 people
- Sponsor
- Pfizer
Cystic Fibrosis, Homozygous F508del Mutation
Validation of Respiratory Epithelial Functional Assessment to Predict Clinical Efficacy of Orkambi®.
The purpose of the study is to investigate whether the correction of CFTR function by Lumacaftor/Ivacaftor in a patient-derived primary nasal cell model is a surrogate biomarker for respiratory improvement in Orkambi® treated…
- Trial name
- PREDICT-CF (NCT03894657)
- Testing
- Nasal brushing, Sputum sample, blood sample
- Where
- France
- Volunteers
- 91 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Congenital Muscular Dystrophy Due to Lamin A/C Mutation
HBCMD01- Expanded Access for the Treatment of Congenital Muscular Dystrophy.
This individual patient expanded access IND is requested for a patient diagnosed with LMNA-related congenital muscular dystrophy (L-CMD).
- Trial name
- NCT05154851
- Testing
- HB-adMSCs
- Where
- United States
- Sponsor
- Hope Biosciences Research Foundation
Advanced Non-small Cell Lung Cancer, HER2 Mutation
A Study to Learn More About How Well Sevabertinib Works and How Safe it is Compared With Standard Treatment, in Participants Who Have Advanced Non-small Cell Lung Cancer (NSCLC) With Mutations of the Human Epidermal Growth Factor Receptor 2 (HER2)
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called human epidermal growth factor receptor 2 (HER2) mutations.
- Trial name
- SOHO-02 (NCT06452277)
- Testing
- Sevabertinib, Pembrolizumab, Cisplatin
- Where
- 279 sites in United States, Argentina and 34 more
- Volunteers
- 444 people
- Sponsor
- Bayer
Upper Tract Urothelial Carcinoma
Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for Upper Tract Urothelial Carcinoma Detection
Clinical trial to determine the efficacy (sensitivity and specificity) of Anchordx's urine DNA methylation/somatic mutation assay for detecting upper tract urothelial carcinoma compared to pathology in patients.
- Trial name
- NCT04948528
- Testing
- Active Comparator: Surgery Pathology or Cystoscopy, Active Comparator: Clinical Diagnosis
- Where
- China
- Volunteers
- 490 people
- Sponsor
- AnchorDx Medical Co., Ltd.
Colorectal Cancer, Adenoma Colon
Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
This is an multicenter study that will test the diagnostic accuracy of a blood test (i.e., a liquid biopsy) for the diagnosis of colorectal cancer (CRC), advanced adenomas (AAs), as well as Lynch-syndrome associated cancers.
- Conditions
- Colorectal Cancer, Adenoma Colon, Adenoma Colon Polyp, Colon Adenoma
- Trial name
- BEACON (NCT07450612)
- Testing
- BEACON
- Where
- 4 sites in Italy
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Muscular Dystrophy, Duchenne, Muscular Dystrophies
An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT02090959
- Testing
- Ataluren
- Where
- 58 sites in United States, Australia and 17 more
- Volunteers
- 219 people
- Sponsor
- PTC Therapeutics
Carcinoma, Non-small Cell Lung
Phase III Study of Nazartinib (EGF816) Versus Erlotinib/Gefitinib in First-line Locally Advanced / Metastatic NSCLC With EGFR Activating Mutations
This is a phase III, open label, randomized controlled multi-center global study designed to evaluate the safety and efficacy of single agent nazartinib (EGF816) compared with investigator's choice (erlotinib or gefitinib) in…
- Trial name
- NCT03529084
- Testing
- EFG816, erlotinib or gefitinib
- Sponsor
- Novartis Pharmaceuticals
Solid Tumor, KRAS Mutation-Related Tumors
A Study of ZG2001 in Participants With KRAS Mutated Advanced Solid Tumours
This study will evaluate the tolerability, safety, effects, and pharmacokinetics of ZG2001 in Participants with advanced solid tumors that have a KRAS mutation.
- Trial name
- NCT06237413
- Testing
- ZG2001 Tosilate Tablets
- Where
- China
- Volunteers
- 110 people
- Sponsor
- Suzhou Zelgen Biopharmaceuticals Co.,Ltd
Non-Small Cell Lung Cancer
A Study Evaluating the Safety, Activity, and Pharmacokinetics of Divarasib as a Single Agent or in Combination With Other Anti-Cancer Therapies in Participants With Previously Untreated Advanced or Metastatic Non-Small Cell Lung Cancer With a KRAS G12C Mutation
The purpose of this study is to evaluate the safety, pharmacokinetics (PK), and activity of single-agent divarasib or combined with other anti-cancer therapies in participants with previously untreated, advanced or metastatic…
- Trial name
- KRAScendo 170 (NCT05789082)
- Testing
- Divarasib, Pembrolizumab, Carboplatin
- Where
- 71 sites in United States, Argentina and 16 more
- Volunteers
- 320 people
- Sponsor
- Hoffmann-La Roche
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