Search clinical trials for: Exome

Total 167 results

Roswell Park Cancer Institute
Novartis

Terminated

Panobinostat and Everolimus in Treating Patients With Metastatic or Unresectable Renal Cell Cancer That Does Not Respond to Treatment With Sunitinib Malate or Sorafenib Tosylate

Clear Cell Renal Cell Carcinoma | Stage III Renal Cell Cancer | Stage IV Renal Cell Cancer | Recurrent Renal Cell Cancer

United States
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé Et de la Recherche Médicale, France

Completed

Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) (OBEXOME)

Syndromic Obesity

France
Sensor Technology for Deafblind
Central Clinical Hospital under President Affairs; Deaf-Blind Support Foundation... and other collaborators

Completed

Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa (RU-RP)

Retinitis Pigmentosa | Usher Syndromes

Russian Federation
Boston Children's Hospital
Pfizer

Completed

Patient Forward Access to Clinical and Technological Research: Genetic Influences on Cancer and Atopic Dermatitis (PFACTR02)

Cancer | Eczema/Atopic Dermatitis

United States
Italfarmaco

Terminated

Phase II Clinical Trial of ITF2357 In Patients With Relapsed/Refractory Multiple Myeloma

Multiple Myeloma

Italy
Yonsei University

Completed

Durvalumab (MEDI4736) and Tremelimumab in Hormone Receptor-positive, Hypermutated Metastatic Breast Cancer Identified by Whole Exome Sequencing

Metastatic Breast Cancer

Korea, Republic of
Rennes University Hospital

Completed

Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. (EXOMEDIANE)

Holoprosencephaly

France
Assistance Publique - Hôpitaux de Paris
French rare diseases Healthcare Network; The French Foundation for Rare Diseases

Active, not recruiting

Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants (EXODENT)

Amelogenesis Imperfecta | Dentinogenesis Imperfecta | Dentin Anomalies

France
National Human Genome Research Institute (NHGRI)

Completed

A Study of Consent Forms for Whole Exome and Whole Genome Sequencing

Whole Genome Sequencing

United States
Clinical Hospital Center Rijeka
Karolinska Institutet; University Medical Centre Ljubljana; Croatian Science...

Enrolling by invitation

The Epidemiology of Parkinson's Disease in Croatia and the Influence of Genetic Factors and Microbiota on the Progression and Treatment Outcomes of the Disease (GiOPARK) (GiOPARK)

Parkinson Disease | Genetic Disease | Microbiota | Neuro-Degenerative Disease | Neuroinflammatory Response

Croatia
Children's Hospital of Chongqing Medical University

Completed

ABCA3 Gene and RDS in Late Preterm and Term Infants

Respiratory Distress Syndrome, Newborn

China
Assistance Publique - Hôpitaux de Paris
Bristol-Myers Squibb

Terminated

Tumor Mutational Burden in Lung Cancer Patients (MUBULUC)

Non Small Cell Lung Cancer | Non-small Cell Lung Cancer Stage IV | Non Small Cell Lung Cancer Stage III | Non-Small Cell Carcinoma of Lung

France
Brigham and Women's Hospital
United States Department of Defense

Completed

Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force (MilSeq)

Genetic Predisposition to Disease | Healthy Adults

United States
University of Leicester

Active, not recruiting

A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases (ReST)

Genetic Disease | Screening | Aortic Aneurysm and Dissection

United Kingdom
Dana-Farber Cancer Institute

Completed

Whole-Exome Sequencing (WES) of Cancer Patients

Lung Adenocarcinoma | Colon Adenocarcinoma

United States
Assistance Publique - Hôpitaux de Paris

Completed

Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum (EXACC)

Fetal Agenesis of the Corpus Callosum (ACC)

France
The First Affiliated Hospital of Xiamen University

Unknown

Molecular Imaging Visualization of Tumor Heterogeneity in Non-small Cell Lung Cancer

NSCLC | Radiomics | Biopsy | Genomics | PET/CT | Whole-exome Sequencing

China
National University, Singapore
Health Promotion Board, Singapore; Genome Institute of Singapore A*Star, Singapore

Completed

Whole-exome Sequencing in Childhood Obesity

Childhood Obesity

Singapore
Children's Hospital Medical Center, Cincinnati

Terminated

Malignant Hyperthermia Registry and Genetic Testing

Malignant Hyperthermia

United States
Texas Cardiac Arrhythmia Research Foundation

Unknown

Genetic Mechanisms Underlying SARS-CoV-2 Infection and the Impact of COVID-19 on Cognitive Function (GenCov)

Covid19

United States
Imperial College London Diabetes Centre

Unknown

Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE

Diabetes Mellitus, Type 2 | Diabetes Mellitus, Type 1 | Maturity-onset Diabetes of the Young

United Arab Emirates
Centre Hospitalier Universitaire de Besancon

Completed

Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study (SHD-DI)

Severe Intellectual Disability

France
University of North Carolina, Chapel Hill
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Completed

North Carolina Newborn Exome Sequencing for Universal Screening (NC_NEXUS)

Metabolism, Inborn Errors | Hearing Loss | Hereditary Disease

United States
Nantes University Hospital

Completed

Prospective Multicenter Study on the Identification of Genetic Abnormalities Predisposing to Vasospasm From a Privileged Model: the Primary Raynaud's Phenomenon (RAY-GENE)

Primary Raynaud's Phenomenon (PR) | Genetic Mutations Causing PR | Study of Patients and Their Relatives (With or Without Primary PR)

France
National Human Genome Research Institute (NHGRI)

Completed

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

Undiagnosed Disease

United States
University Hospital, Montpellier

Completed

Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing (GenesinJIA)

Arthritis, Juvenile Rheumatoid
University Hospital, Strasbourg, France

Completed

Severe PID With Lymphoproliferation and Neutropenia (DICEP)

Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)

France
Eunice Kennedy Shriver National Institute of Child...

Completed

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

Genetic Predisposition

United States
Xuanwu Hospital, Beijing

Unknown

Genomic Landscape of Intramedullary Astrocytoma (GIMA)

Spinal Cord Astrocytoma

China
Eunice Kennedy Shriver National Institute of Child...

Completed

Exome Sequencing in Autistic Spectrum Disorder

Autism Spectrum Disorder | Autistic Disorder | Autism

United States
Centre Hospitalier Universitaire Dijon

Completed

Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes (FOETEX)

Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations

France
University Hospital, Montpellier

Unknown

Molecular Heterogeneity in Multilobar Low-grade Gliomas

Low-grade Diffuse Glioma

France
Centre Georges Francois Leclerc

Completed

What Benefit of a Full Analysis of Exome? Routine Care Study in Patients With Solid Tumors (EXOMA)

Carcinoma

France
University Hospital, Montpellier
ABM Industries

Unknown

NIPD of CFTC by WGA Coupled to Mini-exome Sequencing (DIAFEXOME)

Monogenic Diseases

France
University of Copenhagen
Odense University Hospital

Unknown

Drivers of Hypoxia-induced Angiogenesis in Tumor Development

Von Hippel-Lindau Disease

Denmark
Hospices Civils de Lyon

Completed

Molecular Characterization of Patients Affected by Williams Syndrome and Autism. (WBA)

Autism Spectrum Disorder | Williams Beuren Syndrome
University Hospital, Bordeaux

Completed

Study of a Candidate Gene Involved in Goldenhar Syndrome. (GOLDGEN)

Goldenhar Syndrome | Oculoauriculovertebral Dysplasia
Lei Li

Unknown

Multi-omics Study on the Pathogenesis of Malignant Transformation of Adenomyosis

Endometrial Cancer | Adenomyosis | Genomics | Eutopic Endometrium | Transcriptomics | Ectopic Endometrial Tissue

China
University Health Network, Toronto

Completed

Use of Exome Sequence Analysis and Circulating Tumour in Assessing Tumour Heterogeneity in BRAF Mutant Melanoma

Melanoma

Canada
Taipei Veterans General Hospital, Taiwan

Unknown

DNA Exome Sequencing TCM for Sjögren's Syndrome

Sjögren's Syndrome

Taiwan
Fujian Provincial Hospital
First Affiliated Hospital of Fujian Medical University; Fujian Medical University...

Unknown

Whole-Exome Sequencing (WES) of Intraductal Neoplasms of the Bile Duct (IPNB) (WESIPNB)

Bile Duct Neoplasms | Intraductal Papillary Mucinous Neoplasm

China
Washington University School of Medicine

Completed

Exome Sequencing for Atypical Femoral Fractures

Osteoporosis | Atypical Femoral Fractures | Bisphosphonate Therapy
Nantes University Hospital
Nantes Genomics platform

Completed

Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic (HUGODIMS)

Severe Intellectual Disability

France
Lei Li

Unknown

A Multi-omics Study of Epithelial Ovarian Cancer

Epithelial Ovarian Cancer | Metabolomics | Transcriptomics | Whole Exome Sequencing | Tumor Invasiveness | Tumorigenesis

China
Lei Li

Unknown

HPV Integration and Tumorigenesis of Uterine Cervical Adenocarcinoma

Cervical Adenocarcinoma | Human Papillomavirus | Metabolome | Prognosis | Whole Exome Sequencing | Tumorigenesis | Transcriptome | Genome-wide Association Study

China
Fifth Affiliated Hospital, Sun Yat-Sen University
Third Affiliated Hospital, Sun Yat-Sen University

Unknown

Whole Exome Sequencing in CKD Hypertension (WESCH)

Hypertension;Nephropathy

China
Rennes University Hospital

Completed

Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing (EXOSPINA)

Spina Bifida

France
Centre Hospitalier Universitaire Dijon

Completed

Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling (SHD-EE)

Epileptic Encephalopathy of Unindentified Genetic Origin

France
Hospices Civils de Lyon

Unknown

Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs (SEESIC)

Intellectual Disability

France
Centre Georges Francois Leclerc

Completed

Triple Negative Breast Cancer: Identification Pilot Study of Predictive Transcriptome Profiles of Early Tumor Drug Resistance Observed in 18F-Fluorodeoxyglucose (FDG) PET (TRANSTEP)

Breast Neoplasms

France

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