Search clinical trials for: Genetic Mutation

Total 21227 results

National Institute of Allergy and Infectious Diseases...
Albert Einstein College of Medicine

Recruiting

Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)

Infections | Immune System Diseases | Pneumonia | Job Syndrome | STAT3 Transcription Factor

United States
National Institute of Allergy and Infectious Diseases...

Recruiting

Genetic Analysis of Immune Disorders

Immunodeficiency | GATA2 | DOK 8 | STAT1 | STAT3

United States
National Institute on Deafness and Other Communication...

Enrolling by invitation

Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan

Hearing Disorder

Pakistan
National Institute on Deafness and Other Communication...

Completed

Genetic Analysis of Hereditary Disorders of Hearing and Balance

Sensorineural Hearing Loss | Vestibular Disease | Hearing Disorder

United States, Nigeria
National Human Genome Research Institute (NHGRI)

Completed

Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations

Parkinson Disease | Gaucher Disease

United States
M.D. Anderson Cancer Center
National Cancer Institute (NCI)

Active, not recruiting

Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations

Hereditary Breast and Ovarian Cancer Syndrome | Premenopausal | Deleterious BARD1 Gene Mutation | Deleterious BRCA1 Gene Mutation | Deleterious BRCA2 Gene Mutation | Deleterious BRIP1 Gene Mutation | Deleterious EPCAM Gene Mutation | Deleterious MLH1 Gene Mutation | Deleterious MSH2 Gene Mutation | Deleterious... and other conditions

United States
University of Pennsylvania
Memorial Sloan Kettering Cancer Center; Susan G. Komen Breast Cancer Foundation

Enrolling by invitation

Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer (PROMISE)

Ovarian Cancer | BRCA Mutation

United States
Artios Pharma Ltd

Active, not recruiting

A Study of ART4215 for the Treatment of Advanced or Metastatic Solid Tumors

Breast Cancer | Metastatic Cancer | Advanced Cancer

United States, United Kingdom
Pfizer

Active, not recruiting

A Study to Evaluate the Long-term Safety of Inclacumab Administered to Participants With Sickle Cell Disease

Sickle Cell Disease | Vaso-occlusive Pain Episode in Sickle Cell Disease | Vaso-occlusive Crisis

United States, Oman, Colombia, Brazil, Lebanon, Nigeria, Germany, Italy, Kenya, Saudi Arabia, Tanzania, Turkey
AstraZeneca
Merck Sharp & Dohme LLC; GOG Foundation; Myriad Genetic Laboratories, Inc.

Active, not recruiting

Olaparib Maintenance Monotherapy in Patients With BRCA Mutated Ovarian Cancer Following First Line Platinum Based Chemotherapy. (SOLO-1)

Advanced Ovarian Cancer | Newly Diagnosed | FIGO Stage III-IV | Partial Response | Complete Response | BRCA Mutation | First Line Platinum Chemotherapy

Korea, Republic of, France, Italy, United States, Israel, Canada, China, Brazil, United Kingdom, Poland, Australia, Japan, Netherlands, Russian Federation, Spain
Amgen

Completed

Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia) (HAUSER-OLE)

Familial Hypercholesterolemia

Canada, Italy, Norway, Belgium, United States, Turkey, Australia, Austria, South Africa, Poland, Switzerland, Spain, Portugal, Slovenia, Brazil, Russian Federation, Hungary, United Kingdom, Colombia, Czechia, Netherlands, Greece, Ma...
National Eye Institute (NEI)

Active, not recruiting

Natural History of Eye Diseases Related to ABCA4 Mutations

Retinal Degeneration | ABCA4-Related Retinopathies

United States
Amgen

Completed

Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders (TAUSSIG)

Severe Familial Hypercholesterolemia

Italy, Czechia, United States, Israel, New Zealand, South Africa, France, Spain, Australia, Belgium, Canada, Netherlands, Hong Kong, Brazil, United Kingdom, Greece, Japan, Lebanon
Khondrion BV
Julius Clinical; ProPharma Group; Europees Fonds voor Regionale Ontwikkeling... and other collaborators

Active, not recruiting

The KHENERGYC Study

Mitochondrial Diseases | MELAS | Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation | Subacute Necrotizing Encephalomyelopathy

Netherlands
National Heart, Lung, and Blood Institute (NHLBI)

Completed

CADASIL Disease Discovery

Cardiovascular Disease | Arterial Stiffness | Germline Mutation in the NOTCH 3 Gene | Pathogenesis of CADASIL | Clinical Phenotype of CADASIL

United States
Children's Hospital of Philadelphia
Illumina, Inc.

Active, not recruiting

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Mucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditions

United States
Washington University School of Medicine
Hoffmann-La Roche; National Institute on Aging (NIA); Alzheimer's Association

Terminated

Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia: A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation (DIAN-TU)

Dementia | Alzheimers Disease | Alzheimers Disease, Familial

United States, France, Spain, Ireland, Canada, Australia, Puerto Rico, United Kingdom
National Cancer Institute (NCI)

Active, not recruiting

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)

Recurrent Childhood Medulloblastoma | Recurrent Childhood Ependymoma | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Recurrent Hepatoblastoma | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Glioma | Recurrent Malignant Solid Neoplasm | Recurrent Neuroblastoma and other conditions

United States, Puerto Rico
National Cancer Institute (NCI)
Children's Oncology Group

Active, not recruiting

Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)

Recurrent Hodgkin Lymphoma | Refractory Hodgkin Lymphoma | Rhabdoid Tumor | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Ann Arbor Stage III Hodgkin Lymphoma | Ann Arbor Stage IV Hodgkin Lymphoma | Recurrent Ependymoma | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent... and other conditions

United States, Puerto Rico
National Cancer Institute (NCI)

Active, not recruiting

Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)

Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent Histiocytic and Dendritic Cell Neoplasm | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Germ Cell Tumor | Recurrent Malignant Solid Neoplasm | Recurrent... and other conditions

United States, Puerto Rico
National Cancer Institute (NCI)
Children's Oncology Group

Active, not recruiting

Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)

Refractory Malignant Solid Neoplasm | Recurrent Ependymoma | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Germ Cell Tumor | Recurrent Malignant Glioma | Recurrent Malignant Solid Neoplasm | Recurrent Medulloblastoma | Recurrent Neuroblastoma and other conditions

United States, Puerto Rico, Australia
National Cancer Institute (NCI)

Active, not recruiting

Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)

Malignant Glioma | Rhabdoid Tumor | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Recurrent Ependymoma | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Germ Cell Tumor | Recurrent Malignant Solid Neoplasm | Recurrent... and other conditions

United States, Puerto Rico
Beacon Therapeutics

Active, not recruiting

Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (HORIZON)

X-Linked Retinitis Pigmentosa

United States
National Heart, Lung, and Blood Institute (NHLBI)

Completed

WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)

Hypertension | Cardiovascular Disease | Williams Syndrome | Multisystem Developmental Disorder | Elastin Gene Deletion

United States
National Cancer Institute (NCI)

Active, not recruiting

Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)

Soft Tissue Sarcoma | Osteosarcoma | Ewing Sarcoma | Malignant Glioma | Ependymoma | Rhabdoid Tumor | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Rhabdomyosarcoma | Recurrent Malignant Solid Neoplasm | Recurrent Neuroblastoma | Refractory Neuroblastoma | Refractory Non-Hodgkin Lymphoma and other conditions

United States, Puerto Rico
PTC Therapeutics
Cooperative International Neuromuscular Research Group; The John Walton Muscular...

Active, not recruiting

Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Muscular Dystrophy, Duchenne

Germany, France, United Kingdom, Brazil, Italy, Austria, Sweden, Czechia, Greece, Hungary, Israel, Latvia, Norway, Portugal, Romania, Slovenia
Jaeb Center for Health Research
Foundation Fighting Blindness

Active, not recruiting

Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS)

Eye Diseases | Retinitis Pigmentosa

United States, Israel, Finland, Canada, France, Germany, Netherlands
Novartis Pharmaceuticals

Active, not recruiting

Study of Two Doses of Crizanlizumab Versus Placebo in Adolescent and Adult Sickle Cell Disease Patients (STAND)

Sickle Cell Disease (SCD)

United States, United Kingdom, Germany, Spain, Greece, Italy, Brazil, Lebanon, Turkey, Belgium, France, Jordan, India, Finland, Canada, Colombia, Netherlands, Oman, South Africa, Panama, Ghana
University of Texas Southwestern Medical Center

Completed

Stone Disease in Children and Their Families

Urolithiasis | Hypercalciuria
Fox Chase Cancer Center
National Cancer Institute (NCI)

Completed

Genetic Mutations in Blood and Tissue Samples in Predicting Response to Treatment in Patients With Locally Advanced Rectal Cancer Undergoing Chemoradiation

Mucinous Adenocarcinoma of the Rectum | Signet Ring Adenocarcinoma of the Rectum | Stage IIA Rectal Cancer | Stage IIB Rectal Cancer | Stage IIC Rectal Cancer | Stage IIIA Rectal Cancer | Stage IIIB Rectal Cancer | Stage IIIC Rectal Cancer | Recurrent Rectal Cancer

United States
Neurophth Therapeutics Inc

Active, not recruiting

Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND4 Mutations

Leber Hereditary Optic Neuropathy (LHON)

United States
PTC Therapeutics

Enrolling by invitation

Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)

Duchenne Muscular Dystrophy

United States, Canada
AstraZeneca
Merck Sharp & Dohme LLC; Myriad Genetics, Inc.; Foundation Medicine, Inc.

Active, not recruiting

Clinical Study to Assess the Efficacy and Safety of Olaparib in Chinese Patients With Metastatic Castration-Resistant Prostate Cancer Who Have Failed Prior Treatment With a New Hormonal Agent and Have BRCA1/2 Mutations

Metastatic Castration-resistant Prostate Cancer

China
Vertex Pharmaceuticals Incorporated

Completed

A Study to Evaluate the Safety and Efficacy of Long-term Treatment With TEZ/IVA in CF Participants With an F508del CFTR Mutation

Cystic Fibrosis

United States, Germany, United Kingdom, Canada, Australia, Switzerland, France, Ireland, Belgium, Denmark, Poland
Aldeyra Therapeutics, Inc.

Completed

A Study in Subjects With Retinitis Pigmentosa

Retinitis Pigmentosa

United States
Technical University of Munich

Completed

Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers (LIBRE)

Hereditary Breast and Ovarian Cancer

Germany
AstraZeneca

Active, not recruiting

Open Label Study to Assess Efficacy and Safety of Olaparib in Confirmed Genetic BRCA1 or BRCA2 Mutation Pats

Breast | Prostate | Ovarian | Pancreatic | Advanced Tumours

Sweden, Spain, Israel, Australia, Germany
Spark Therapeutics, Inc.
Children's Hospital of Philadelphia; University of Iowa

Active, not recruiting

Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis

Leber Congenital Amaurosis | Inherited Retinal Dystrophy Due to RPE65 Mutations

United States
Radboud University Medical Center

Active, not recruiting

Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI

Colorectal Cancer

Netherlands
Ohio State University
Pfizer; PTEN Research

Active, not recruiting

Sirolimus for Cowden Syndrome With Colon Polyposis

Cowden Syndrome | Polyposis | PTEN Gene Mutation | PTEN Hamartoma Tumor Syndrome | PTEN Hamartoma Syndrome | Bannayan Syndrome | Bannayan Zonana Syndrome

United States
Sheba Medical Center

Terminated

Heat Intolerance in the Group of FMF Patients

Familial Mediterranean Fever | Heat Intolerance | Heat Tolerance Test

Israel
Roswell Park Cancer Institute

Active, not recruiting

Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer

Acute Myeloid Leukemia | Polycythemia Vera | Myelofibrosis | Chronic Myelomonocytic Leukemia | Waldenstrom Macroglobulinemia | Acute Lymphoblastic Leukemia | Chronic Lymphocytic Leukemia | Secondary Acute Myeloid Leukemia | Sickle Cell Disease | Myelodysplastic Syndrome | Plasma Cell Myeloma | Chronic Granulomatous... and other conditions

United States
PTC Therapeutics

Completed

A Study to Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Nonsene Mutation Duchenne Muscular Dystrophy

United States
AstraZeneca
Merck Sharp & Dohme LLC; Myriad Genetic Laboratories, Inc.

Active, not recruiting

Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations. (OlympiAD)

Breast Cancer Metastatic | BRCA 1 Gene Mutation | BRCA 2 Gene Mutation

Italy, Spain, United States, Czechia, Romania, France, Korea, Republic of, United Kingdom, Hungary, Japan, Peru, Poland, Russian Federation, Turkey, China, Taiwan, Bulgaria, Switzerland, Mexico
Beacon Therapeutics

Active, not recruiting

A Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)

X-Linked Retinitis Pigmentosa

United States
RTI International
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

Early Check: Expanded Screening in Newborns

Primary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditions

United States
Pfizer

Terminated

A Study of a Single Dose of Inclacumab to Reduce Re-admission in Participants With Sickle Cell Disease and Recurrent Vaso-occlusive Crises

Sickle Cell Disease | Vaso-occlusive Pain Episode in Sickle Cell Disease | Vaso-occlusive Crisis

United States, Oman, France, Brazil, Colombia, Lebanon, Nigeria, Germany, Italy, Kenya, Saudi Arabia, Turkey, United Kingdom, Zambia
Beacon Therapeutics

Enrolling by invitation

A Study Comparing Two Doses of AGTC-501 in Male Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (DAWN)

X-Linked Retinitis Pigmentosa

United States
Prevail Therapeutics
Eli Lilly and Company

Active, not recruiting

Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)

Gaucher Disease, Type 2

United States, United Kingdom
State University of New York at Buffalo
Hadley Jo Foundation

Completed

Natural History Study of SLC25A46 Mutation-related Mitochondriopathy

Mitochondrial Diseases | Optic Atrophy | Neurodegenerative Disease, Hereditary

United States

Search clinical trials for: Genetic Mutation

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