Clinical trials: Genetic Mutation
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
Large-Cell Neuroendocrine Carcinoma
Next Generation Sequencing-Based Stratification of Front Line Treatment of HighGrade Neuroendocrine Carcinoma
PRECISION-NEC is a single-center, open-label, pilot feasibility study of molecularly defined subtypes of metastatic high-grade neuroendocrine carcinoma (HG-NEC).
- Trial name
- PRECISION-NEC (NCT04452292)
- Testing
- Treatment Specific for Non-Small Cell Carcinoma/Adenocarcinoma, Treatment for Small Cell Lung Cancer
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Charles Kunos
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
Lung Neoplasms
Lazertinib in Patients With NSCLC With Asymptomatic or Mild Symptomatic Brain Metastases After Failure of EGFR TKI.
This is an open-label, single-intervention, multicenter clinical trial in patients with non-small cell lung cancer with asymptomatic or mildly symptomatic brain metastases after failure of EGFR TKI treatment.
- Trial name
- NCT05326425
- Testing
- lazertinib(YH25448)
- Where
- 6 sites in South Korea
- Volunteers
- 40 people
- Sponsor
- Jin Hyoung Kang
HR+ HER2- Breast Cancer
Sapanisertib and Serabelisib (PIKTOR) in Various Combinations in Patients With HR+/HER2- Advanced/Metastatic Breast Cancer
The study is a Phase 1b/2, multi-center, open-label, dose escalation trial evaluating the safety and preliminary efficacy of sapanisertib and serabelisib (PIKTOR) with fulvestrant and/or other anticancer therapies in participants…
- Trial name
- NCT07558733
- Testing
- Serabelisib, Sapanisertib, Fulvestrant
- Where
- 7 sites in United States
- Volunteers
- 32 people
- Sponsor
- Faeth Therapeutics
Recessive Dystrophic Epidermolysis Bullosa
Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease for which there is only supportive care.
- Trial name
- NCT02698735
- Testing
- Gentamicin
- Volunteers
- 5 people
- Sponsor
- University of Southern California
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
Non-small Cell Lung Cancer
First-line Icotinib With Concurrent Radiotherapy for NSCLC With EGFR Mutation
Eligible patients are administered with oral icotinib 125mg three times daily for two months, in which responsive patients (partial response and stable disease) are randomized (1: 1: 1) and receive icotinib plus concurrent…
- Trial name
- NCT02883543
- Testing
- icotinib, Chemotherapy, Radiotherapy
- Volunteers
- 330 people
- Sponsor
- Daping Hospital and the Research Institute of Surgery of the Third Military Medical University
Melanoma
Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or Trametinib
This is a three-arm, open-label, randomised Phase II study to evaluate whether the different sequencing of dabrafenib and trametinib monotherapies and the upfront combination has an impact on translational or clinical activity in…
- Trial name
- NCT02314143
- Testing
- Dabrafenib, Trametinib
- Where
- 7 sites in France, Spain
- Volunteers
- 48 people
- Sponsor
- GlaxoSmithKline
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
Thrombosis
Thrombophilic Risk Factors in Pediatric Patients Diagnosed at the Ha'Emek Medical Center
The study will assess the clinical and laboratory data of about 100 pediatric patients diagnosed and treated at the Pediatric Hematology Unit during the years 1980 until 2007 because of thrombotic events.
- Trial name
- NCT00736008
- Testing
- Observational
- Where
- Israel
- Volunteers
- 100 people
- Sponsor
- HaEmek Medical Center, Israel
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
Clonal Cytopenia of Undetermined Significance (CCUS), Low-Risk Myelodysplastic Syndrome (LR-MDS)
Safety and Tolerability of REGN17235 in Adult Participants With Clonal Cytopenia of Undetermined Significance and Low-Risk Myelodysplastic Syndrome With SF3B1 Mutation
This study will test a study drug called REGN17235 (the "study drug") to see if it can help treat Clonal Cytopenia of Undetermined Significance (CCUS) and Low-Risk Myelodysplastic Syndrome (LR-MDS) with a specific genetic…
- Trial name
- NCT07753148
- Testing
- REGN17235
- Where
- 2 sites in Belgium
- Volunteers
- 52 people
- Sponsor
- Regeneron Pharmaceuticals
Cystic Fibrosis
A Study Evaluating the Long-term Safety and Efficacy of Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis (CF) Particpants 6 Years and Older and F/MF Genotypes
The study evaluates the long-term safety and efficacy of elexacaftor (ELX)/tezacaftor (TEZ)/ivacaftor (IVA) triple combination (TC) in participants with CF who are 6 years of age and older with F/MF genotypes.
- Trial name
- NCT04545515
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 34 sites in Australia, Canada and 8 more
- Volunteers
- 120 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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
Advanced Solid Tumors, Metastatic Solid Tumors
Study of RAS(ON) Inhibitors in Combination With Ivonescimab in Patients With Solid Tumors
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary antitumor activity of RAS(ON) inhibitors in combination with ivonescimab in adults with advanced or metastatic solid tumors…
- Conditions
- Advanced Solid Tumors, Metastatic Solid Tumors, Non-small Cell Lung Cancer (NSCLC), NSCLC
- Trial name
- NCT07397338
- Testing
- Daraxonrasib, Elironrasib, Zoldonrasib
- Where
- 19 sites in United States
- Volunteers
- 370 people
- Sponsor
- Revolution Medicines, Inc.
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
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