Clinical trials: Gene Mutations
Carcinoma, Renal Cell, Von Hippel-Lindau Disease
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates…
- Trial name
- SoMuKT (NCT06194669)
- Testing
- Blood and urine sample collection
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- IRCCS San Raffaele
Covid19
Proof-of-Concept Clinical Pharmacology Trial for COVID-19 Antigen Presentation Therapeutic Biologic Mix
Conducting an initial small, controlled clinical pharmacology trial to assess for therapeutic biologics activity (proof-of-concept) that suggests the potential for clinical benefit of COVID-19 patients with controlled cancers. 1.
- Trial name
- COVSP-BCG (NCT03305341)
- Testing
- COVID-19 Therapeutic Biologic Mix - NOVAVAX COVID-19 VACCINE plus BCG Vaccine Mix for percutaneous use
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Han Xu, M.D., Ph.D., FAPCR, Sponsor-Investigator, IRB Chair
Naive Advanced Non-small Cell Lung Cancer With EGFR-sensitive Mutations (EGFR Exon 19 Deletion and Exon 21 L858R Mutation) and Symptomatic Brain Metastases
Hippocampus-Protective Radiotherapy Combined With Osimertinib for Symptomatic Brain Metastases in EGFR-Mutated Lung Cancer
This is a single-arm, multicenter, open-label, phase Ⅱ exploratory clinical study, which plans to enroll 74 treatment-naive patients with EGFR-sensitive mutations (exon 19 deletion, exon 21 L858R mutation) and symptomatic brain…
- Trial name
- HOPE-WBRT (NCT07505173)
- Testing
- Hippocampal-Sparing Whole-Brain Radiotherapy + Simultaneous Integrated Boost to Brain Metastases + O, Hippocampus-Protective Radiotherapy Combined With Osimertinib for Symptomatic Brain Metastases in EGFR-classic Mutated Lung Cancer
- Where
- China
- Volunteers
- 74 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
Charcot Marie Tooth Disease, DIFGAN
Genotype/Phenotype Correlation of MORC2 Mutations
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations.
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth
- Trial name
- PhenoMORC2 (NCT07038239)
- Testing
- Skin biopsy, Blood sample
- Where
- 12 sites in France
- Volunteers
- 45 people
- Sponsor
- Hospices Civils de Lyon
Inherited Retinal Diseases
Safety and Efficacy Study of PUMCH-E101 Injection in Subjects with RDH12 Retinopathy
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in subjects with RDH12 retinopathy.
- Trial name
- NCT06749639
- Testing
- PUMCH-E101 Injection（Low dose）, PUMCH-E101 Injection（High dose）
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Peking Union Medical College Hospital
Lung Adenocarcinoma
Chemotherapy Plus Gefitinib for Advanced Lung Adenocarcinoma and Sensitive EGFR Mutations: a Randomized Controlled Trial
The purpose of this study is to compare chemotherapy and gefitinib in combination with gefitinib alone as first-line therapy for adenocarcinoma, in terms of efficacy and safety.
- Trial name
- NCT02951637
- Testing
- Pemetrexed plus carboplatin combined with gefitinib, Gefitinib
- Volunteers
- 300 people
- Sponsor
- Shanghai Chest Hospital
Adenocarcinoma of Lung Metastatic to Brain
Furmonertinib Combined With Anlotinib in Lung Adenocarcinoma Patients With EGFR Mutations and Brain Metastases
The goal of this clinical trial is to learn if furmonertinib plus anlotinib works to treat participants with lung adenocarcinoma with EGFR mutations and brain metastases.
- Trial name
- LungBrain001 (NCT06483672)
- Testing
- Furmonertinib, Anlotinib
- Volunteers
- 27 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Fabry Disease, Aged 65 Years or Older
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Fabry disease is a rare genetic disorder affecting 1 in 10,000 individuals, leading to complications such as chronic pain, heart and kidney failure, and strokes, ultimately impacting life expectancy.
- Conditions
- Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation
- Trial name
- FABRY65 (NCT07277361)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Wladimir MAUHIN, Dr
Non-small Cell Lung Cancer
Erlotinib With or Without Hydroxychloroquine in Chemo-Naive Advanced NSCLC and (EGFR) Mutations
The purpose of this research study is to learn if adding hydroxychloroquine (HCQ) to erlotinib helps treat non-small cell lung cancer (NSCLC).
- Trial name
- NCT00977470
- Testing
- Erlotinib, Hydroxychloroquine
- Where
- 4 sites in United States
- Volunteers
- 76 people
- Sponsor
- Massachusetts General Hospital
NSCLC Stage IV, EGFR Gene Mutation
A Phase II Study of Sacituzumab Tirumotecan in Combination With Furmonertinib in Patients With Non-squamous Non-Small Cell Lung Cancer Who Have Progressed After EGFR-TKI and Platinum-Based Chemotherapy
Efficacy and Safety of Sacituzumab Tirumotecan Combined with Furmonertinib in Patients with Locally Advanced or Metastatic Non-squamous Non-Small Cell Lung Cancer Who Have Progressed After EGFR-TKI and Platinum-Based Chemotherapy.
- Trial name
- TROP-LUNG (NCT07548060)
- Testing
- sacituzumab tirumotecan
- Where
- China
- Volunteers
- 25 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
RET-altered Non Small Cell Lung Cancer, Medullary Thyroid Cancer
Phase 1/2 Study of the Highly-selective RET Inhibitor, Pralsetinib (BLU-667), in Participants With Thyroid Cancer, Non-Small Cell Lung Cancer, and Other Advanced Solid Tumors
This is a Phase 1/2, open-label, first-in-human (FIH) study designed to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and preliminary antineoplastic activity of pralsetinib (BLU-667)…
- Conditions
- RET-altered Non Small Cell Lung Cancer, Medullary Thyroid Cancer, RET-altered Papillary Thyroid Cancer, RET-altered Colon Cancer
- Trial name
- ARROW (NCT03037385)
- Testing
- pralsetinib (BLU-667)
- Where
- 71 sites in United States, Belgium and 11 more
- Volunteers
- 590 people
- Sponsor
- Hoffmann-La Roche
BRAF or NRAS Mutant Metastatic Melanoma
A Phase II Study of Single Agent MEK162 in Patients With Advanced Melanoma
The study will assess the safety and efficacy of single-agent MEK162 in adult patients with locally advanced and unresectable or metastatic malignant cutaneous melanoma, harboring BRAFV600E or NRAS mutations.
- Trial name
- NCT01320085
- Testing
- MEK162
- Where
- 25 sites in United States, Germany and 3 more
- Volunteers
- 183 people
- Sponsor
- Pfizer
COL4A1\2, COL4A1-Related Brain Small Vessel Disease With Haemorrhage
COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
This observational and diagnostic study aims to better understand the clinical features and biological mechanisms associated with mutations in the COL4A1 and COL4A2 genes, which are known to cause a rare inherited small-vessel…
- Trial name
- NCT07374913
- Testing
- Ophtalmological and cardiological screening
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- Meyer Children's Hospital IRCCS
Parkinson's Disease
A Global Study to Assess the Drug Dynamics, Efficacy, and Safety of Venglustat (GZ/SAR402671) in Parkinson's Disease Patients Carrying a Glucocerebrosidase (GBA) Gene Mutation
Primary Objectives: Part 1: To determine the safety and tolerability of 4, 8, and 15 milligrams of GZ/SAR402671 (venglustat) administered orally for 4 weeks, as compared to placebo in participants with early-stage Parkinson's…
- Trial name
- MOVES-PD (NCT02906020)
- Testing
- venglustat GZ/SAR402671
- Where
- 52 sites in United States, Austria and 14 more
- Volunteers
- 273 people
- Sponsor
- Genzyme, a Sanofi Company
Neuroblastoma
Studying Tumor Samples From Young Patients With Neuroblastoma
This research study is looking at tumor samples from young patients with neuroblastoma. Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and…
- Trial name
- NCT00907920
- Testing
- laboratory biomarker analysis
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Children's Oncology Group
Solid Tumor, Breast Tumor
Niraparib in the Treatment of Patients With Advanced PALB2 Mutated Tumors
The purpose of this study is to further evaluate the efficacy and safety of niraparib in patients with locally advanced or metastatic solid tumors and a pathogenic or likely pathogenic tumor PALB2 (tPALB2) mutation.
- Conditions
- Solid Tumor, Breast Tumor, Colon Tumor, Malignant, Lung Tumor
- Trial name
- PAVO (NCT05169437)
- Testing
- Niraparib
- Where
- 80 sites in United States
- Volunteers
- 22 people
- Sponsor
- Tempus AI
Stable Angina
CYP2C19 Gene Alteration and Thienopyridine Resistance in Percutaneous Coronary Intervention Study
Dual antiplatelet therapy with aspirin and thienopyridines decreases the rate of stent thrombosis in patients undergoing percutaneous coronary intervention (PCI).
- Trial name
- CALDERA-PCI (NCT00876512)
- Where
- Japan
- Volunteers
- 104 people
- Sponsor
- Kumamoto University
Women With Mutations in the Breast Cancer Susceptibility Genes BRCA1,2
BRCA1/2 and Effect of Mifepristone on the Breast
Ovarian steroids, as well as their synthetic counterparts gestagens and estrogens have a role in breast cell proliferation and the development of breast cancer.
- Trial name
- NCT01898312
- Testing
- Mifepristone
- Where
- Sweden
- Volunteers
- 45 people
- Sponsor
- Karolinska Institutet
Mesothelioma, Malignant Mesothelioma (MM)
Alrizomadlin (APG-115) in Subjects With BAP1 Cancer Syndrome and Early-Stage Mesothelioma
Background: Mesothelioma is a rare cancer typically caused by exposure to asbestos and related fibers. Most people with mesothelioma survive less than 5 years after diagnosis.
- Conditions
- Mesothelioma, Malignant Mesothelioma (MM), Early-stage Mesothelioma, Subclinical Mesothelioma
- Trial name
- NCT06654050
- Testing
- alrizomadlin
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)
Lung Cancer, Non-small Cell Lung Cancer
Study of Durvalumab or Durvalumab Plus Chemotherapy in Kras Mutation Positive and PD-L1 High (≥ 50%) NSCLC Patients
This is a two arm, randomized, phase II study of patients with advanced KRAS mutation positive and PD-L1 high NSCLC who have not received therapy for advanced stage disease.
- Conditions
- Lung Cancer, Non-small Cell Lung Cancer, PD-L1 Gene Mutation, KRAS Activating Mutation
- Trial name
- NCT04470674
- Testing
- Durvalumab, Carboplatin, Pemetrexed
- Where
- United States
- Sponsor
- Shirish M Gadgeel
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