Clinical trials: Gene Mutations
Non-Small-Cell Lung Cancer
Furmonertinib Combined With Anlotinib as the First-line Treatment in Patients With EGFR Mutation-positive NSCLC
The aim of this phase Ⅱ study is to evaluate the efficacy and safety of Furmonertinib combined with Anlotinib as the first-line treatment in locally advanced or metastatic non-small cell lung cancer with sensitive EGFR mutations.
- Trial name
- FOCUS-A (NCT04895930)
- Testing
- Furmonertinib, Anlotinib
- Where
- China
- Volunteers
- 40 people
- Sponsor
- Shanghai Chest Hospital
Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma
Combination Treatment (Talazoparib Plus Avelumab) for Stage IV or Recurrent Non-Squamous Non-Small Cell Lung Cancer With STK11 Gene Mutation (A LUNG-MAP Treatment Trial)
This phase II LUNG-MAP treatment trial studies how well combination treatment (talazoparib plus avelumab) works in treating patients with non-squamous non-small cell lung cancer that has an STK11 gene mutation and has come back…
- Conditions
- Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma, Stage IV Lung Cancer AJCC v8, Stage IVA Lung Cancer AJCC v8
- Trial name
- NCT04173507
- Testing
- Avelumab, Talazoparib, Talazoparib Tosylate
- Where
- 325 sites in United States
- Volunteers
- 47 people
- Sponsor
- SWOG Cancer Research Network
Parkinson's Disease
Functional Characterization of Parkin + Patients
Parkinson's disease is one of the most frequent neurodegenerative diseases, and for which the mechanisms remains unknown. Since the implication of susceptibility factors is highly suspect, we have recently shown that one…
- Trial name
- NCT00142311
- Where
- 14 sites in France
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Smith-Lemli-Opitz Syndrome
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations.
- Trial name
- NCT00017732
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Gene Mutation-Related Cancer, Genetic Predisposition
COsegregation of VARiants in Panel of Genes
The aim of the COVAR project is to achieve reliable classification of as many variants of interest as possible from the French OncoGenetics Database (FrOG, https://frog-db.fr/) in order to use them for the genetic counseling.
- Trial name
- COVAR (NCT01689584)
- Testing
- salivary kit
- Where
- 62 sites in France, Guadeloupe and 3 more
- Volunteers
- 11,000 people
- Sponsor
- Institut Curie
Thyroid Cancer, Papillary
Ultrasound-Guided Microwave Ablation Vs. Surgery for Low-Risk PapilaryThyroid Carcinoma
This study aims to investigate the efficacy and prognosis of ultrasound-guided and gene-based microwave ablation (MWA) versus surgical treatment in patients with low-risk papillary thyroid carcinoma (PTC).
- Trial name
- NCT06725576
- Testing
- Ablation
- Where
- China
- Volunteers
- 201 people
- Sponsor
- Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
AML, MDS
A Study of E6201 for the Treatment of Advanced Hematologic Malignancies With FLT3 and/or Ras Mutations
This is a Phase 1/2a dose-escalation study of E6201, a dual mitogen-activated protein kinase/extracellular-signal regulated kinase 1 (MEK1) and FMS-like tyrosine kinase 3 (FLT3) inhibitor, in subjects with advanced hematologic…
- Conditions
- AML, MDS, CMML
- Trial name
- NCT02418000
- Testing
- E6201
- Where
- 4 sites in United States
- Volunteers
- 27 people
- Sponsor
- Spirita Oncology, LLC
Lung Cancer Metastatic, EGFR Gene Mutation
Alisertib in Combination With Osimertinib in Metastatic EGFR-mutant Lung Cancer
This phase I/Ib trial studies the side effects and best dose of alisertib when given together with osimertinib in treating patients with EGFR-mutated stage IV lung cancer.
- Trial name
- NCT04085315
- Testing
- Osimertinib, Alisertib
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Collin Blakely
Leber Hereditary Optic Neuropathy
A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy
This study is meant to evaluate the safety and efficacy of rAAV2-ND4 treatment for Leber hereditary optic neuropathy with the G11778A mutation in mitochondrial DNA.
- Trial name
- NCT03153293
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 159 people
- Sponsor
- Huazhong University of Science and Technology
Long QT Syndrome
Mutation-specific Therapy for the Long QT Syndrome
Novel therapy for the Long QT Syndrome based on the mechanism of action of the disease-causing mutations Long QT syndrome type 2 (LQT2) accounts for ~ 35% of all LQTS cases and is difficult to manage, as beta-blockers frequently…
- Trial name
- MAST2 (NCT04581408)
- Testing
- Lumacaftor / Ivacaftor, Orkambi® Oral Tablet
- Where
- Italy
- Volunteers
- 16 people
- Sponsor
- Istituto Auxologico Italiano
Metastatic Colorectal Cancer
Study of WNT974 in Combination With LGX818 and Cetuximab in Patients With BRAF-mutant Metastatic Colorectal Cancer (mCRC) and Wnt Pathway Mutations
The purpose of this study is to assess the safety and anti-tumor activity of the triple combination of WNT974, LGX818 and cetuximab in BRAFV600-mutant mCRC with RNF43 mutations or RSPO fusions.
- Trial name
- NCT02278133
- Testing
- WNT974, LGX818, Cetuximab
- Where
- 19 sites in United States, Australia and 8 more
- Volunteers
- 20 people
- Sponsor
- Array BioPharma
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Transformation Potential of E2 Exposed Breast Cancer Susceptibility Gene Mutation Heterozygous Epithelial Breast Cells
Susceptibility to breast cancer is related to the combination of genetic, hormonal and multiple other environmental risk factors, such as mutations in the BRCA gene and excess exposure to exogenous estrogen, respectively.
- Trial name
- NCT01907438
- Where
- Israel
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Arrhythmogenic Right Ventricular Cardiomyopathy
Non-interventional Study of Seroprevalence of Pre-existing Antibodies Against Adenovirus-associated Virus Vector (AAV9) and the Progression of Disease in Patients With Plakophilin 2 (PKP2)-Associated Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
This is a multicenter, non-interventional study to observe the natural progression of the disease and to study the prevalence of pre-existing antibodies to AAV9 used for gene therapy in a population of patients with PKP2…
- Trial name
- RIDGE (NCT06311708)
- Where
- 21 sites in United States, France and 4 more
- Volunteers
- 200 people
- Sponsor
- Tenaya Therapeutics
X-Linked Retinitis Pigmentosa
4D-125 in Patients With X-Linked Retinitis Pigmentosa (XLRP)
This is a Phase 1/2 multicenter study with two parallel parts: an observational natural history cohort and an open-label, prospective interventional trial in males with non-syndromic X-linked retinitis pigmentosa (XLRP) due to…
- Trial name
- NCT04517149
- Testing
- 4D-125 IVT Injection, Observational
- Where
- 8 sites in United States
- Volunteers
- 21 people
- Sponsor
- 4D Molecular Therapeutics
Lung Cancer, EGFR Gene Mutation
Adjuvant Target Therapy Guided by ctDNA-MRD in Patients With EGFR-mutant II-IIIA Non-small Cell Lung Cancer (ECTOP-1022)
This study plans to conduct ctDNA testing on EGFR mutation-positive stage II-IIIA (N1-N2) NSCLC patients after radical surgery (R0 resection).
- Conditions
- Lung Cancer, EGFR Gene Mutation, Minimal Residual Disease
- Trial name
- NCT06323148
- Testing
- Osimertinib, No adjuvant therapy
- Volunteers
- 226 people
- Sponsor
- Fudan University
Advanced Malignant Solid Neoplasm, Recurrent Childhood Ependymoma
Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well erdafitinib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with FGFR mutations that have spread to other places in the body and…
- Conditions
- Advanced Malignant Solid Neoplasm, Recurrent Childhood Ependymoma, Recurrent Childhood Malignant Germ Cell Tumor, Recurrent Childhood Medulloblastoma
- Trial name
- NCT03210714
- Testing
- Biospecimen Collection, Bone Marrow Aspiration and Biopsy, Bone Scan
- Where
- 116 sites in United States, Puerto Rico
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Squamous Cell Carcinoma
A Biomarker-implemented Clinical Study Evaluating Mutations in MET and TP53 in a Population of Treatment-refractory Squamous Cell Carcinoma
Afatinib is approved therapy for SCC of the lung after progression with standard of care chemotherapy. There is also evidence of improvement of progression free survival of patients with metastatic/recurrent SCC of the head and…
- Trial name
- NCT04533321
- Testing
- Afatinib
- Where
- Singapore
- Volunteers
- 20 people
- Sponsor
- National University Hospital, Singapore
Chronic Myeloid Leukemia
Homoharringtonine (Omacetaxine Mepesuccinate) in Treating Patients With Chronic Myeloid Leukemia (CML) With the T315I BCR-ABL Gene Mutation
To evaluate the safety and efficacy of subcutaneous administration of omacetaxine mepesuccinate (HHT) in achieving a clinical response in CML patients in chronic, accelerated, or blast phase who have failed prior imatinib therapy…
- Trial name
- NCT00375219
- Testing
- Omacetaxine mepesuccinate
- Where
- 32 sites in United States, Canada and 8 more
- Volunteers
- 103 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D, Inc.
Endometrial Cancer, Endometrial Cancer Precursors
The DETECT Study: Discovery and Evaluation of Testing for Endometrial and Ovarian Cancer in Tampons
BACKGROUND: Endometrial cancer is a common and deadly cancer for women. It is getting more common and deadly because risk factors like age and obesity are increasing.
- Conditions
- Endometrial Cancer, Endometrial Cancer Precursors, Ovarian Cancer, Complex Atypical Endometrial Hyperplasia
- Trial name
- DETECT (NCT03538665)
- Where
- United States
- Volunteers
- 1,700 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Retinitis Pigmentosa
Safety and Tolerability Study of Gene Editing Drug ZVS203e in Participants With Retinitis Pigmentosa
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of ZVS203e administered via subretinal injection in participants with RP caused by RHO site-specific gene mutation…
- Trial name
- NCT05805007
- Testing
- ZVS203e
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Peking University Third Hospital
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