Clinical trials: Gene Mutations
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
Metastatic Breast Cancer
Characterization & Comparison of Drugable Mutations in Primary and Metastatic Tumors, CTCs and cfDNA in MBCpatients
Characterization of the driver mutations in an individual metastatic breast cancer patient is critical for many reasons. Effective targeted therapies require identifying genomic alterations in the tumoral tissue.
- Trial name
- MIRROR (NCT02626039)
- Where
- Spain
- Volunteers
- 40 people
- Sponsor
- Hospital General Universitario Gregorio Marañon
ALK Gene Translocation, EGFR Activating Mutation
Nivolumab and Plinabulin in Treating Patients With Stage IIIB-IV, Recurrent, or Metastatic Non-small Cell Lung Cancer
This phase I/II trial studies the side effects and best dose of plinabulin when given together with nivolumab and to see how well they work in treating patients with stage IIIB-IV non-small cell lung cancer that has come back or…
- Conditions
- ALK Gene Translocation, EGFR Activating Mutation, Recurrent Non-Small Cell Lung Carcinoma, ROS1 Gene Translocation
- Trial name
- NCT02846792
- Testing
- Nivolumab, Plinabulin
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Washington
Ovarian Neoplasms
Characterizing the Cross-sectional Approach to Investigate the Prevalence of Tissue BRCA1/2 Mutations in Newly Diagnosed Advanced Ovarian Cancer Patients
This is a multi-center, observational study in Japan. Patients with newly diagnosed FIGO stage III - IV advanced OC will be enrolled sequentially.
- Trial name
- CHRISTELLE (NCT04222465)
- Where
- 20 sites in Japan
- Volunteers
- 207 people
- Sponsor
- AstraZeneca
HIBM
Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE)
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
- Trial name
- ClinBio-GNE (NCT02196909)
- Testing
- motor function and strength assessment, NMR assessment, 24h urine and serum collection
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
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
Brain and Central Nervous System Tumors, Hereditary Wilms Tumor
Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the development of some types of cancer, and may…
- Conditions
- Brain and Central Nervous System Tumors, Hereditary Wilms Tumor, Kidney Cancer, Liver Cancer
- Trial name
- NCT01353300
- Testing
- DNA analysis, cytogenetic analysis, gene expression analysis
- Volunteers
- 31 people
- Sponsor
- Children's Oncology Group
Hereditary Breast and Ovarian Cancer
Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers
BRCA1/2 mutation carriers have a considerably increased risk to develop breast and ovarian cancer during their lifetime. There is evidence from the literature that for sporadic breast cancer disease risk and the course of disease…
- Trial name
- LIBRE (NCT02087592)
- Testing
- Structured exercise training plus mediterranean diet
- Where
- 3 sites in Germany
- Volunteers
- 69 people
- Sponsor
- Technical University of Munich
Colorectal Cancer
Study of Selumetinib (AZD6244)(ARRY-142886) in Combination With Irinotecan in Previously Treated Patients With Colorec
The purpose of this study is to determine whether treatment with Selumetinib (AZD6244) (Hyd-Sulfate) in combination with Irinotecan as a second treatment in patients with K-ras or B-raf mutation will prevent tumor progression and…
- Trial name
- NCT01116271
- Testing
- AZD6244, Irinotecan
- Where
- 12 sites in United States
- Volunteers
- 32 people
- Sponsor
- AstraZeneca
Leber Congenital Amaurosis
Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutationsin RPE65 gene.
- Trial name
- NCT06088992
- Testing
- HG004
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Stage IV Colorectal Cancer
Study of FOLFIRI + Panitumumab Using Ultra-selection Technology of Patients With Stage IV Colorectal Cancer Refractory to Irinotecan Without Any Mutation on KRAS, PIK3Ca, BRAF and NRAS Genes Detected With Highly Sensitive Techniques
Open label Phase II study of FOLFIRI + Panitumumab using ultra-selection technology with next generation high sensitivity genotyping of patients with stage IV colorectal cancer refractory to irinotecan without any mutation on…
- Trial name
- ULTRA (NCT01704703)
- Testing
- panitumumab, FOLFIRI
- Where
- Spain
- Volunteers
- 72 people
- Sponsor
- Spanish Cooperative Group for the Treatment of Digestive Tumours (TTD)
IIIb/IV NSCLC With T790M Positive Mutations Failed to Osimertinib Therapy
Efficacy and Safety of Toripalimab (JS001) Combined With Pemetrexed and Anlotinib for Patients With T790M Positive Non-Small Cell Lung Cancer After Osimertinib Resistance
This is an open-label, single-arm, multi-center, phase II exploratory study that evaluates the efficacy and safety of Toripalimab injection (JS001) combined with Pemetrexed and Anlotinib as a second-line treatment for patients…
- Trial name
- NCT04316351
- Testing
- Toripalimab + Pemetrexed + Anlotinib
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Guangzhou Institute of Respiratory Disease
Ameloblastoma, BRAF Gene Mutation
Dabrafenib and Trametinib in Treating Patients With BRAF Mutated Ameloblastoma
This pilot clinical trial studies dabrafenib and trametinib in treating patients with ameloblastoma and a specific mutation (change) in the BRAF gene.
- Trial name
- NCT02367859
- Testing
- Dabrafenib, Trametinib
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Stanford University
Chronic Myeloid Leukemia (CML)
Identification of BCR::ABL1 Mutations by Digital PCR in CML
The goal of this study is to asses the ability of digital PCR (ddPCR) to detect actionable mutations in adult CML patients with failure of TKI therapy.
- Trial name
- DiP-in-CML (NCT07158294)
- Testing
- Peripheral blood withdrawal for BCR::ABL1 mutations testing
- Volunteers
- 150 people
- Sponsor
- Gruppo Italiano Malattie EMatologiche dell'Adulto
Lung Cancer
Rh-Endostatin in Combination With Icotinib for Advanced NSCLC With EGFR Mutations
This single-arm pilot study tries to invesitgate how well giving icotinib with rh-endostatin (Endostar®) works in treating patients with advanced stage non-small cell lung cancer (NSCLC) with epidermal growth factor receptor…
- Trial name
- NCT02375022
- Testing
- Endostar and icotinib
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Zhejiang University
Non-Small Cell Lung Cancer, Pancreatic Cancer
Study of an Anti-HER3 Antibody, HMBD-001, With or Without Chemotherapy in Patients With Solid Tumors Harboring an NRG1 Fusion or HER3 Mutation
This is a phase 1b multi-center, open-label study of HMBD-001 with or without chemotherapy in participants with advanced solid tumors harboring NRG1 gene fusions or selected HER3 mutations.
- Conditions
- Non-Small Cell Lung Cancer, Pancreatic Cancer, Locally Advanced Solid Tumor, Metastatic Solid Tumor
- Trial name
- NCT05919537
- Testing
- HMBD-001, Docetaxel, Nab-paclitaxel
- Where
- 5 sites in Australia
- Volunteers
- 68 people
- Sponsor
- Hummingbird Bioscience
Amyotrophic Lateral Sclerosis
Personalized Antisense Oligonucleotide Therapy for A Single Patient With CHCHD10 ALS (nL18576)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with amyotrophic lateral sclerosis (ALS) due to a pathogenic variant in CHCHD10
- Trial name
- NCT07423494
- Testing
- nL-CHCHD-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Systemic Mastocytosis
Imatinib in KIT-negative Systemic Mastocytosis
The aim of this study is to evaluate the efficacy in terms of clinical and biological response rates of Imatinib Mesylate therapy in patients with systemic mastocytosis lacking KIT mutations.
- Trial name
- NCT01297777
- Testing
- Imatinib Mesylate
- Where
- Spain
- Volunteers
- 10 people
- Sponsor
- Hospital Virgen de la Salud
Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations
A Study of Zipalertinib in Patients With Advanced Non-Small Cell Lung Cancer With Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions or Other Uncommon Mutation.
The purpose of this study is to evaluate the safety, efficacy and pharmacokinetics (PK) of zipalertinib in participants with locally advanced or metastatic Non-Small Cell Lung Cancer (NSCLC) harboring EGFR ex20ins mutations and…
- Trial name
- REZILIENT2 (NCT05967689)
- Testing
- TAS6417, CYP Cocktail, Transporter Cocktail
- Where
- 80 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- Taiho Oncology, Inc.
Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood
A Prospective Multicenters Clinical Cohort Study of Stratified Treatment of Chinese Children With LBL
With the development of molecular biology and precise medical treatment, new challenges have been raised in the diagnosis and treatment of non-Hodgkin lymphoma (NHL) in children.
- Conditions
- Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood, PTEN Loss, NOTCH1 Gene Mutation
- Trial name
- NCT03971318
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Sun Yat-sen University
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