Clinical trials: Genetic Mutation
Breast Cancer Metastatic
Cohort Study of Patients With HER2-negative MBC and BRCA 1/2 Pathogenic Mutation
The purpose of this study is to investigate the prevalence germline pathogenic BRCA1/2 mutation in a large group of potential candidate of PARP inhibitors, among the unselected patients with HER2-negative unresectable locally…
- Trial name
- BRCAm (NCT04368442)
- Where
- South Korea
- Volunteers
- 583 people
- Sponsor
- Samsung Medical Center
Congenital Hypothyroidism
TG Gene Mutations and Congenital Hypothyroidism
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.
- Trial name
- NCT00493103
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Sao Paulo
IFN-Gamma Therapy, CGD Gene Mutation
Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
Background: Chronic granulomatous disease (CGD) is an immunodeficiency disease in which white blood cells are unable to kill certain bacteria and fungi.
- Conditions
- IFN-Gamma Therapy, CGD Gene Mutation, CGD Response to IFNg, CGD - Chronic Granulomatous Disease
- Trial name
- NCT01147042
- Testing
- IFN-gamma
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Menin Inhibitors, Post Hematopoietic Stem Cell Transplantation
Phase 2 Trial of BN104 as Post-HSCT Maintenance in Acute Leukemia
This is a phase 2, open label, single arm trial. This study aims to assess the efficacy and safety of menin inhibitor BN104 as maintenance therapy in patients with acute leukemia harboring specific genetic alterations who have…
- Conditions
- Menin Inhibitors, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy, Acute Leukemia
- Trial name
- NCT07101497
- Testing
- BN104 monotherapy
- Where
- China
- Volunteers
- 60 people
- Sponsor
- The First Affiliated Hospital of Soochow University
NSCLC
Study of EGFR TKI in Patients With Advanced NSCLC Harbouring EGFR Mutations
The goal of this clinical trial is to explore the efficacy of afatinib in NSCLC harbouring EGFR PACC mutation subtype. The main question it aims to answer is: Afatinib is active in patients with advanced NSCLC harbouring EGFR…
- Trial name
- NCT06062823
- Testing
- Afatinib 40 MG
- Where
- Singapore
- Volunteers
- 35 people
- Sponsor
- National University Hospital, Singapore
Myeloproliferative Neoplasms
A Study to Evaluate INCA033989 Administered as a Monotherapy or in Combination With Ruxolitinib in Participants With Myeloproliferative Neoplasms
This study is being conducted to evaluate the safety, tolerability, and dose-limiting toxicity (DLT) and determine the maximum tolerated dose (MTD) and/or recommended dose(s) for expansion (RDE) of INCA033989 administered as a…
- Trial name
- NCT05936359
- Testing
- INCA033989, Ruxolitinib
- Where
- 28 sites in Australia, Canada and 7 more
- Volunteers
- 160 people
- Sponsor
- Incyte Corporation
Breast Cancer
Duct Endoscopy in Assessing Cellular Atypia in the Breast Duct Fluid of Women With a Genetic Risk for Breast Cancer
RATIONALE: Diagnostic procedures, such as breast duct endoscopy, may improve the ability to detect breast cancer earlier and plan more effective treatment.
- Trial name
- NCT00082979
- Testing
- cytogenetic analysis, proteomic profiling, cytology specimen collection procedure
- Where
- United Kingdom
- Volunteers
- 60 people
- Sponsor
- Royal Marsden NHS Foundation Trust
Non-Small Cell Lung Cancer
A Phase Ⅰ/Ⅱa Clinical Study of GEN-725 in Combination With Dositinib
This is an open-label phase I/phase II clinical study designed to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of GEN-725 in combination with Dositinib in participants with locally advanced or…
- Trial name
- NCT07362940
- Testing
- GEN-725 tablets + Dositinib mesylate tablets
- Where
- 5 sites in China
- Volunteers
- 110 people
- Sponsor
- Henan Genuine Biotech Co., Ltd.
HER2-Negative Breast Cancer
Study of Pembrolizumab in Metastatic HER2-negative Breast Cancer Patients With APOBEC3B Mutation
This is an open label investigator initiated Phase II study of single agent pembrolizumab (Keytruda) in metastatic HER2-receptive negative breast cancer patients with germline deletion in the cytosine deaminase (APOBEC3B) gene.
- Trial name
- NCT03989089
- Testing
- Pembrolizumab
- Where
- 2 sites in Malaysia, Singapore
- Volunteers
- 44 people
- Sponsor
- University of Malaya
NSCLC
Pathological and Nuclear Medicine Factors for Prognosis in Lung Carcinoma
Retrospective study in patients with therapy-naive non small cell lung carcinoma correlating presurgical F18-FDG-PET/CT imaging texture analysis data with postsurgical molecular pathology data and clinical patient outcome.
- Trial name
- PANU (NCT04276025)
- Testing
- Clinical routine F18-FDG-PET/CT, molecular pathology and clinical outcome
- Volunteers
- 2,000 people
- Sponsor
- Klinikum Bayreuth GmbH
Parkinson Disease, Nervous System Disorder
Molecular and Functional Imaging in Monogenic PD.
In this study, the investigators aim to find a biomarker of Parkinson's disease. This is done using imaging scans called Positron Emission tomography (PET), Single Photon Emission Computed Tomography (SPECT), and Magnetic…
- Conditions
- Parkinson Disease, Nervous System Disorder, Neurodegenerative Diseases, Neurodegenerative Disease, Hereditary
- Trial name
- FOX_1 (NCT05518617)
- Testing
- Positron Emission Tomography (PET) scan using DASB tracer
- Where
- United Kingdom
- Volunteers
- 45 people
- Sponsor
- University of Exeter
Solid Tumor, C-Met Mutation-Related Tumors
Safety, Tolerability, Pharmacokinetic Characteristics, and Preliminary Efficacy Evaluation of GST-HG161
Safety, tolerability, pharmacokinetic characteristics, and preliminary efficacy evaluation of the selective c-MET inhibitor GST-HG161 in patients with advanced or metastatic solid tumors: An open, single and multiple…
- Trial name
- NCT04228406
- Testing
- GST-HG161
- Where
- China
- Volunteers
- 62 people
- Sponsor
- Fujian Cosunter Pharmaceutical Co. Ltd
Non Small Cell Lung Cancer
To Study the Changes in Protein in Lung Cells of Asian Patients With Advanced Non-small Cell Lung Cancer (NSCLC)
The purpose of this study is to study the changes in protein in lung cells of Asian patients with advanced non small cell lung cancer.
- Trial name
- PIONEER (NCT01185314)
- Testing
- Testing for mutation status
- Where
- 36 sites in China, Hong Kong and 5 more
- Volunteers
- 1,270 people
- Sponsor
- AstraZeneca
Advanced Cancers
An Umbrella, Modular Study Based on Epidermal Growth Factor Receptor (EGFR) Mutation Status
The goal of this screening portion of this clinical research study is to learn if you are eligible to take part in a clinical research study using Tarceva (erlotinib hydrochloride) and either Erbitux (cetuximab), Velcade…
- Trial name
- NCT00903734
- Testing
- Erlotinib Hydrochloride (Tarceva)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- M.D. Anderson Cancer Center
Colorectal Cancer (CRC)
Sotorasib and Panitumumab Versus Investigator's Choice for Participants With Kirsten Rat Sarcoma (KRAS) p.G12C Mutation
The aim of the study is to compare progression-free survival (PFS) in previously treated participants with Kirsten rat sarcoma (KRAS) p.G12C mutated colorectal cancer (CRC) receiving sotorasib 240 mg once daily (QD) and…
- Trial name
- CodeBreak300 (NCT05198934)
- Testing
- Sotorasib, Panitumumab, Trifluridine and Tipiracil
- Where
- 105 sites in United States, Australia and 10 more
- Volunteers
- 160 people
- Sponsor
- Amgen
Frontotemporal Dementia, Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) is a rare clinical entity, in which both disorders are variably associated in the same patient or within the family.
- Trial name
- NCT00159198
- Where
- 15 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
Does a Nasal Instillation of Vardenafil Normalize the Nasal Potential Difference in Cystic Fibrosis Patients?
The purpose of this study is to investigate the effect of a nasal instillation of Vardenafil on nasal potential difference in cystic fibrosis patients homozygous for the F508del mutation
- Trial name
- NCT01002534
- Testing
- Vardenafil
- Where
- Belgium
- Volunteers
- 5 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Breast Cancer
Study Evaluating DNA Double-strand Breaks (DSBs) REpair Factors (POLQ, Shieldin Complex and 53BP1) Expression as Biomarker of PARP Inhibitor Resistance in Patients With Deleterious Germline Mutation in BRCA 1/2 and HER2-negative, Metastatic or Locally Advanced Breast Cancer.
The purpose of this study is to assess whether expression of not only POLQ/Polθ, but also Shieldin complex and/or 53BP1 are correlated with primary and/or acquired resistance to PARPi (Poly(ADP-Ribose) Polymerases inhibitors) in…
- Trial name
- REPARP (NCT05378204)
- Testing
- Main study:, Sub-study:
- Where
- 25 sites in France
- Volunteers
- 120 people
- Sponsor
- Institut Claudius Regaud
Partial Hearing Loss
Genetic Analysis of Human Hereditary Hearing Impairment
This studied is designed to discover the genes that cause hearing impairment. More precisely, this study aims to map and clone genes that are important for the development and maintenance of the anatomy and physiology related to…
- Trial name
- NCT00001606
- Where
- United States
- Volunteers
- 404 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Non-Small-Cell Lung Cancer
Study of Efficacy and Safety of Dabrafenib and Trametinib Combination Therapy in Japanese Patients With BRAF V600E Stage IV NSCLC
This is an open-label, multicenter, non-randomized, single arm, phase II study to assess efficacy and safety of the dabrafenib and trametinib combination in Japanese patients with any line, stage IV NSCLC harboring a confirmed…
- Trial name
- NCT02672358
- Testing
- Dabrafenib, Trametinib
- Sponsor
- Novartis Pharmaceuticals
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