Search clinical trials for: genes mutation

Total 6258 results

Sensorion

Not yet recruiting

A Phase I/II Clinical Trial With SENS-501 in Children Suffering From Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations (AUDIOGENE)

Otorhinolaryngologic Diseases | Ear Diseases | Hearing Disorders | Deafness | Hearing Loss, Sensorineural | Congenital Deafness | DFNB9 | OTOF Gene Mutation

France
National Institute of Allergy and Infectious Diseases...

Recruiting

Base Editing for Mutation Repair in Hematopoietic Stem & Progenitor Cells for X-Linked Chronic Granulomatous Disease

Chronic Granulomatous Disease (CGD) | X-Linked Chronic Granulomatous Disease

United States
Tenaya Therapeutics
Medical University of South Carolina; Johns Hopkins University; University of... and other collaborators

Recruiting

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) (RIDGE)

Arrhythmogenic Right Ventricular Cardiomyopathy

United States, Italy, United Kingdom, France, Sweden, Germany
ViGeneron GmbH

Recruiting

Safety and Tolerability of Intravitreal Administration of VG901 in Patients With Retinitis Pigmentosa Due to Mutations in the CNGA1 Gene

Retinitis Pigmentosa

Germany
The Affiliated Hospital of Xuzhou Medical University

Recruiting

Effect of Mutations in T2DM Susceptibility Genes on the Expression of Susceptibility Genes in Patients With T2DM and Controls

Type 2 Diabetes Mellitus | Genetic Mutations | Gene Polymorphisms | Susceptibility, Genetic

China
National Cancer Institute (NCI)

Recruiting

Autologous T-cells Genetically Engineered to Express Receptors Reactive Against KRAS Mutations in Conjunction With a Vaccine Directed Against These Antigens in Participants With Metastatic Cancer

Breast Cancer | Colorectal Cancer | Ovarian Cancer | Non-Small Cell Lung Cancer | Gastrointestinal Cancer | Genitourinary Cancer | Metastatic Solid Cancers

United States
Tenaya Therapeutics
Johns Hopkins University; Mayo Clinic

Recruiting

Open-label, Dose Escalation Study of Safety and Preliminary Efficacy of TN-401 in Adults With PKP2 Mutation-associated ARVC (RIDGE-1)

Arrhythmogenic Right Ventricular Cardiomyopathy

United States
Tianjin Medical University Second Hospital

Recruiting

Pemigatinib for FGF/FGFR Alterations Advanced Pan Solid Tumors

Solid Tumor | FGF Receptor Gene Mutation | FGF Amplification | FGF Receptor Gene Family Rearrangement | FGF Receptor Gene Translocation

China
Regeneron Pharmaceuticals

Recruiting

A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations (ENSEMBLE)

Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF) | Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene | Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes

United States
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Mutational Oncology in Clinical Practice (FPG-500)

Genetic Predisposition to Disease | Gene Rearrangement | Genome Instability

Italy
Taiho Oncology, Inc.

Recruiting

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. (REZILIENT2)

Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations

United States, Japan, Spain, France, Australia, Italy, Korea, Republic of, United Kingdom, Canada, Germany, Turkey, Hong Kong
Hummingbird Bioscience

Recruiting

Study of an Anti-HER3 Antibody, HMBD-001, With or Without Chemotherapy in Patients With Solid Tumors Harboring an NRG1 Fusion or HER3 Mutation

Pancreatic Cancer | Non-Small Cell Lung Cancer | Metastatic Solid Tumor | Locally Advanced Solid Tumor

Australia
Tenaya Therapeutics

Recruiting

Study of Safety and Tolerability of TN-201 in Adults With Symptomatic MYBPC3 Mutation-associated HCM (MyPEAK-1)

Hypertrophic Cardiomyopathy

United States
Regeneron Pharmaceuticals

Recruiting

A Study of DB-OTO, an Adeno-associated Virus (AAV) Based Gene Therapy, in Children/Infants With Hearing Loss Due to Otoferlin Mutations (CHORD)

Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)

Spain, United Kingdom, United States
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

PREDICTION OF GERMLINE BRCA 1/2 GENES FROM HEALTHY OVARIES

Ovarian Cancer | Ultrasound Therapy; Complications | BRCA Mutation

Italy
SparingVision

Recruiting

Promising ROd-cone DYstrophy Gene therapY (PRODYGY)

Retinitis Pigmentosa

United States, France
Cancer Research UK
Royal Marsden NHS Foundation Trust; Hoffmann-La Roche; University of Manchester; University of Birmingham

Recruiting

DETERMINE (Determining Extended Therapeutic Indications for Existing Drugs in Rare Molecularly Defined Indications Using a National Evaluation Platform Trial) - Master Screening Protocol (DETERMINE)

Solid Tumor | Haematological Malignancy

United Kingdom
University of California, San Francisco
GlaxoSmithKline

Recruiting

Combination Therapy in Cancers With Mutations in DNA Repair Genes

Metastatic Solid Tumor | BRCA1 Mutation | BRCA2 Mutation | PALB2 Gene Mutation | ATM Gene Mutation

United States
Nanjing First Hospital, Nanjing Medical University

Recruiting

The Prevalence of Family-unit Helicobacter Pylori Infection in Jiangsu

Helicobacter Pylori Infection

China
National Cancer Institute (NCI)

Recruiting

Targeted Therapy Directed by Genetic Testing in Treating Patients With Locally Advanced or Advanced Solid Tumors, The ComboMATCH Screening Trial

Anatomic Stage III Breast Cancer AJCC v8 | Recurrent Fallopian Tube Carcinoma | Recurrent Ovarian Carcinoma | Recurrent Primary Peritoneal Carcinoma | Anatomic Stage IV Breast Cancer AJCC v8 | Advanced Malignant Solid Neoplasm | Locally Advanced Malignant Solid Neoplasm | Unresectable Malignant Solid... and other conditions

United States, Puerto Rico
National Cancer Institute (NCI)

Recruiting

Study of Chemotherapy Plus Ipatasertib for People With Solid Tumors With AKT Mutations, A ComboMATCH Treatment Trial

Locally Advanced Malignant Solid Neoplasm | Unresectable Malignant Solid Neoplasm | Metastatic Malignant Solid Neoplasm

United States, Puerto Rico
National Cancer Institute (NCI)
NRG Oncology

Recruiting

Testing the Use of Fulvestrant and Binimetinib Targeted Treatment for NF1 Mutation in Hormone Receptor-Positive Metastatic Breast Cancer (A ComboMATCH Treatment Trial)

Anatomic Stage IV Breast Cancer AJCC v8 | Metastatic HER2-Negative Breast Carcinoma | Metastatic Hormone Receptor-Positive Breast Carcinoma

United States, Puerto Rico
Pusan National University Hospital

Recruiting

Feasibility of Intratumoral Washing Fluid for Detecting EGFR Mutations in Lung Cancer

Non Small Cell Lung Cancer | EGFR Gene Mutation

Korea, Republic of
Prevail Therapeutics
Eli Lilly and Company

Recruiting

A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)

Gaucher Disease | Gaucher Disease, Type 1

United States, Spain, Germany
University Hospital, Clermont-Ferrand
Diagnostica Stago

Recruiting

Evaluation of the Inter-center Variability of the Measurement of Thrombin Generation by the ST Genesia System (EVIGE)

Patients Without a Medical History of Thrombosis or Hemorrhage | Hemophilic Patient | Patient With FV Leiden Mutation | Patient With Cirrhosis | Patient on Anticoagulant

France
Sensorion

Recruiting

Natural History in Children up to 10 Years With Moderate to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes (Otoconex)

Sensorineural Hearing Loss, Bilateral | Congenital Deafness | AUNB1 | DFNB1A | DFNB9 | OTOF Gene Mutation | GJB2 Gene Mutation

France
SwanBio Therapeutics, Inc.

Recruiting

A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN) (PROPEL)

AMN | AMN Gene Mutation | X-ALD

Netherlands, United States
National Cancer Institute (NCI)

Recruiting

Testing the Addition of Nivolumab to Standard Treatment for Patients With Metastatic or Unresectable Colorectal Cancer That Have a BRAF Mutation

Metastatic Colon Adenocarcinoma | Metastatic Rectal Adenocarcinoma | Stage III Colon Cancer AJCC v8 | Stage III Rectal Cancer AJCC v8 | Stage IV Colon Cancer AJCC v8 | Stage IV Rectal Cancer AJCC v8 | Unresectable Colon Adenocarcinoma | Unresectable Rectal Adenocarcinoma

United States, Puerto Rico
Asklepios Biopharmaceutical, Inc.

Recruiting

A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)

Muscular Dystrophy | Limb Girdle Muscular Dystrophy | LGMD2I | LGMD | Limb-Girdle Muscular Dystrophy Type 2 | LGMD2 | FKRP | FKRP Mutation | Fukutin Related Protein

United States
GeneScience Pharmaceuticals Co., Ltd.

Recruiting

A Study of Gentuximab in Combination With Almonertinib in EGFR Mutation-positive Metastatic NSCLC

Metastatic Non-Small Cell Lung Cancer

China
Pfizer
Eli Lilly and Company; Merck Sharp & Dohme LLC; Merck KGaA, Darmstadt, Germany

Recruiting

A Study of Encorafenib Plus Cetuximab Taken Together With Pembrolizumab Compared to Pembrolizumab Alone in People With Previously Untreated Metastatic Colorectal Cancer (SEAMARK)

Metastatic Colorectal Cancer

United States, Denmark, Spain, Australia, France, Italy, Belgium, Slovakia, Canada, Czechia, Germany, Netherlands, Norway, Poland, Sweden, United Kingdom
Assiut University

Not yet recruiting

Evaluation of Some Risk Factors Associated With Colorectal Cancer

Colorectal Neoplasms
Bayer

Recruiting

First in Human Study of BAY2927088 in Participants Who Have Advanced Non-small Cell Lung Cancer (NSCLC) With Mutations in the Genes of Epidermal Growth Factor Receptor (EGFR) and/or Human Epidermal Growth Factor Receptor 2 (HER2)

Advanced Non-small Cell Lung Cancer | EGFR Mutation | HER2 Mutation

Hong Kong, United States, Taiwan, Spain, Belgium, China, Japan, France, Korea, Republic of, Singapore, Poland, Israel, Italy, Netherlands, Portugal, Brazil
Day One Biopharmaceuticals, Inc.

Recruiting

Tovorafenib (DAY101) Monotherapy or in Combination With Other Therapies for Patients With Melanoma and Other Solid Tumors

Melanoma | Colorectal Cancer | Solid Tumor | Non Small Cell Lung Cancer | Bladder Cancer | Thyroid Cancer, Papillary | Pilocytic Astrocytoma | Bladder Urothelial Carcinoma | Non-Small Cell Adenocarcinoma | MEK Mutation | RAS Mutation | Pancreatic Acinar Carcinoma | RAF Mutation | CRAF Gene Amplification | RAF1 Gene Amplification and other conditions

United States, Canada, Korea, Republic of, Spain, Australia, Belgium, France
Centre Leon Berard

Recruiting

Real Word European Registry of NTRK Fusions and Other Rare Actionable Fusions (TRacKING) (TRacKING)

Cancer | Cancer Metastatic | ALK Fusion Protein Expression | FGFR2 Gene Translocation | FGFR3 Gene Translocation | NTRK Family Gene Mutation | Gene Fusion | ROS1 Gene Translocation | NTRK Gene Fusion Overexpression | ATIC-ALK Fusion Protein Expression | BCR-FGFR1 Fusion Protein Expression | COL1A1-PDGFB Fusion... and other conditions

France, Denmark, Netherlands, Austria, Germany, Italy, United Kingdom, Czechia, Poland, Slovenia, Spain
National Cancer Institute (NCI)

Recruiting

APOLLO: A Randomized Phase II Double-Blind Study of Olaparib Versus Placebo Following Curative Intent Therapy in Patients With Resected Pancreatic Cancer and a Pathogenic BRCA1, BRCA2 or PALB2 Mutation

Pancreatic Acinar Cell Carcinoma | Pancreatic Adenosquamous Carcinoma | Pancreatic Squamous Cell Carcinoma | Resectable Pancreatic Acinar Cell Carcinoma | Resectable Pancreatic Adenocarcinoma | Resectable Pancreatic Adenosquamous Carcinoma | Resectable Pancreatic Carcinoma

United States
Passage Bio, Inc.

Recruiting

A Study of PBFT02 in Patients With Frontotemporal Dementia and Progranulin Mutations (FTD-GRN) (upliFT-D)

Frontotemporal Dementia | FTD | Dementia Frontotemporal | FTD-GRN

United States, Brazil, Italy, Portugal, Canada
National Cancer Institute (NCI)

Recruiting

Testing the Addition of Pembrolizumab, an Immunotherapy Cancer Drug to Olaparib Alone as Therapy for Patients With Pancreatic Cancer That Has Spread With Inherited BRCA Mutations

Pancreatic Adenocarcinoma | Stage IV Pancreatic Cancer AJCC v8 | Metastatic Pancreatic Adenocarcinoma

United States
Genprex, Inc.

Recruiting

Quaratusugene Ozeplasmid (Reqorsa) and Osimertinib in Patients With Advanced Lung Cancer Who Progressed on Osimertinib (Acclaim-1)

Carcinoma, Non-Small Cell Lung

United States
West China Hospital

Recruiting

Gene Mutation Spectrum of Malignant Hyperthermia in China

Malignant Hyperthermia

China
dr. Laura C. G. de Graaff-Herder

Recruiting

GROWing Up With Rare GENEtic Syndromes (GROW UR GENES)

Disorders of Sex Development | Congenital Adrenal Hyperplasia | Tuberous Sclerosis | Kallmann Syndrome | Prader-Willi Syndrome | Neurofibromatosis | Rett Syndrome | 22q11 Deletion Syndrome | Turner Syndrome | Noonan Syndrome | Allan-Herndon-Dudley Syndrome | Saethre-Chotzen Syndrome | Congenital Hypopituitarism | Cornelia... and other conditions

Netherlands
Prevail Therapeutics
Eli Lilly and Company

Recruiting

Phase 1/2 Clinical Trial of LY3884963 in Patients With Frontotemporal Dementia With Progranulin Mutations (FTD-GRN) (PROCLAIM)

Frontotemporal Dementia

United States, Australia, Belgium, Spain, United Kingdom, France
Lei Li

Recruiting

Genetic Mutation in Epithelial Ovarian Cancer

Epithelial Ovarian Cancer | Microsatellite Instability | PD-L1 | Nucleotide Variant | Copy Number Variation | Insertion-deletion Variation | Genomic Structural Variation | Total Mutation Burden | PD-1

China
Amgen

Recruiting

Sotorasib Activity in Subjects With Advanced Solid Tumors With KRAS p.G12C Mutation (CodeBreak 101)

Advanced Solid Tumors | Kirsten Rat Sarcoma (KRAS) pG12C Mutation

United States, Italy, Taiwan, Spain, United Kingdom, Australia, Austria, Germany, Belgium, Japan, Netherlands, Korea, Republic of, Canada
University Health Network, Toronto
Bayer; AstraZeneca; Amgen; AnHeart Therapeutics Inc.; Applied Health Research Centre and other collaborators

Recruiting

CAnadian CAncers With Rare Molecular Alterations (CARMA) - Basket Real-world Observational Study (BROS) (CARMA-BROS)

Cancer | Malignancies Multiple | Malignant Solid Tumor | Cancer, Therapy-Related | Molecular Sequence Variation | Genetic Alteration | Gene Fusion | Receptor Tyrosine Kinase Gene Mutation | RTK Family Gene Mutation | Ras (Kras or Nras) Gene Mutation

Canada
Centre Georges Francois Leclerc

Recruiting

EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer (EX²TRICAN)

Cancer | Genetic Predisposition

France
Prevail Therapeutics
Eli Lilly and Company

Recruiting

Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL)

Parkinson Disease

United States, Israel
Alliance for Clinical Trials in Oncology
National Cancer Institute (NCI); Eli Lilly and Company; Genentech, Inc.; Kazia... and other collaborators

Recruiting

Genetic Testing in Guiding Treatment for Patients With Brain Metastases

Metastatic Malignant Solid Neoplasm | Metastatic Malignant Neoplasm in the Brain | NTRK Family Gene Mutation | CDK Gene Mutation | PI3K Gene Mutation | ROS1 Gene Mutation | KRAS G12C Mutation

United States
AZ-VUB
AstraZeneca; Kom Op Tegen Kanker

Recruiting

Efficacy of Olaparib in Advanced Cancers Occurring in Patients With Germline Mutations or Somatic Tumor Mutations in Homologous Recombination Genes (1-2018 BSMO)

Advanced Cancers Harbouring Mutations in HRG

Belgium
National Cancer Institute (NCI)

Recruiting

Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes

Mesothelioma | Families

United States

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