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  1. 1. Klinische Studie
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rilevanza Valutazione Più recente Meno recente

dbGaP phs000942 Use of WGS for Diagnosis and Discovery in the Cancer Genetics Clinic - Eligibility

- 27.11.24 - 5 moduli, 1 ItemGroup, 1 elemento, 1 linguaggio
ItemGroup: IG.elig
Principal Investigator: Theodora S. Ross, MD, PhD, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX, USA, and Department of Cancer Genetics, UT Southwestern Medical Center, Dallas, TX, USA MeSH: Neoplasms,Breast Neoplasms,Ovarian Neoplasms,Peritoneal Neoplasms,Skin Neoplasms,Esophageal Neoplasms,Thyroid Neoplasms,Urinary Bladder Neoplasms,Endometrial Neoplasms,Fallopian Tube Neoplasms,Melanoma,Testicular Neoplasms,Bile Duct Neoplasms,Lung Neoplasms,Colonic Neoplasms,Adrenocortical Carcinoma,Carcinoma, Renal Cell,Colonic Polyps,Adenomatous Polyposis Coli,Lymphoma, Large B-Cell, Diffuse,Pheochromocytoma,Paraganglioma,Leiomyoma,Hemangioblastoma,Hyperparathyroidism,Pancreatic Neoplasms,Vulvar Neoplasms,Brain Neoplasms,Liver Neoplasms,Kidney Neoplasms,Prostatic Neoplasms,Glioblastoma,Oncocytoma, renal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000942 Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n = 176) and those without (n = 82). Initial analysis of potentially pathogenic variants (PPVs, defined as nonsynonymous variants with allele frequency 1% in ESP6500) in 163 clinically-relevant genes suggested that WGS will provide useful clinical results. This is despite the fact that a majority of PPVs were novel missense variants likely to be classified as variants of unknown significance (VUS). Furthermore, previously reported pathogenic missense variants did not always associate with their predicted diseases in our patients. This suggests that the clinical use of WGS will require large-scale efforts to consolidate WGS and patient data to improve accuracy of interpretation of rare variants. While loss-of-function (LoF) variants represented only a small fraction of PPVs, WGS identified additional cancer risk LoF PPVs in patients with known BRCA1/2 mutations and led to cancer risk diagnoses in 21% of non-BRCA cancer genetics patients after expanding our analysis to 3209 ClinVar genes. These data illustrate how WGS can be used to improve our ability to discover patients' cancer genetic risks. "Reprinted from doi:10.1016/j.ebiom.2014.12.003, with permission from EBioMedicine."

pht004834.v1.p1

1 ItemGroup 5 elementi

pht004835.v1.p1

1 ItemGroup 5 elementi

pht004836.v1.p1

1 ItemGroup 16 elementi

pht004837.v1.p1

1 ItemGroup 5 elementi

Eligibility Metastatic Renal Cell Carcinoma NCT00606866

- 21.10.16 - 1 modulo, 2 itemgroups, 14 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
MRI Study of BAY 43-9006 in Metastatic Renal Cell Carcinoma; ODM derived from: https://clinicaltrials.gov/show/NCT00606866

dbGaP phs000744 Yale Center for Mendelian Genomics (Y CMG) - pht003977.v4.p2

- 11.12.22 - 5 moduli, 1 ItemGroup, 5 elementi, 1 linguaggio
ItemGroup: pht003977
Principal Investigator: Richard Lifton, Yale University, New Haven, CT, USA MeSH: Familial Idiopathic Pulmonary Fibrosis,Aortic Coarctation,Aortic Stenosis, Supravalvular,Aortic Valve, Bicuspid,Arteries,Blepharophimosis,Bronchiectasis,Carcinoma, Renal Cell,Cardiomyopathies,Ciliary Motility Disorders,Cleft Palate,Congenital Abnormalities,Diaphragmatic Hernia,Ductus Arteriosus, Patent,Gastroschisis,Heart Defects, Congenital,Heart Septal Defects, Atrial,Heart Valve Diseases,Hemangioma,Hereditary Sensory and Autonomic Neuropathies,Hydrocephalus,Hyper-IgM Immunodeficiency Syndrome,Hyperaldosteronism,Hypertension,Ichthyosiform Erythroderma, Congenital,Idiopathic Pulmonary Fibrosis,Lung Diseases, Interstitial,Muscular Atrophy, Spinal,Neuroblastoma,Pneumothorax,Pulmonary Atresia,Pulmonary Valve Stenosis,Rett Syndrome,Spina Bifida,Tetralogy of Fallot,Transposition of Great Vessels,Tricuspid Atresia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000744 Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US. The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments. The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with the CMG to discover the genetic basis of a Mendelian condition, please contact Yale Center (shrikant.mane@yale.edu) for further information.

pht003978.v4.p2

1 ItemGroup 3 elementi

pht003979.v4.p2

1 ItemGroup 7 elementi

pht003980.v4.p2

1 ItemGroup 2 elementi

pht003976.v4.p2

1 ItemGroup 2 elementi

dbGaP phs000491 Whole-Genome and Exome Sequencing in Clear-Cell Renal Cell Carcinoma - pht002697.v1.p1

- 17.10.22 - 5 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio
ItemGroup: pht002697
Principal Investigator: James Brugarolas, MD, PhD, UT Southwestern Medical Center, Dallas, TX, USA MeSH: Carcinoma, Renal Cell,Urogenital Neoplasms,Urologic Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000491 Study to evaluate the molecular genetics of ccRCC through integrative analyses of tumors and tumorgrafts using multiple platforms in clinically annotated samples. Genome and exome data for patients giving consent to have the information available on a public, secure, database is being submitted.

pht002698.v1.p1

1 ItemGroup 3 elementi

pht002699.v1.p1

1 ItemGroup 12 elementi

pht002700.v1.p1

1 ItemGroup 10 elementi

pht002706.v1.p1

1 ItemGroup 2 elementi

dbGaP phs001175 CTSP: Clinical Trial Sequencing Project - pht007755.v2.p2

- 02.06.23 - 2 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio
ItemGroup: pht007755
Principal Investigator: Jean Claude Zenklusen, PhD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Breast,Carcinoma, Renal Cell,Lymphoma, Large B-Cell, Diffuse https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001175 For the Clinical Trials Sequencing Project (CTSP), National Cancer Institute (NCI) will utilize whole genome sequencing and/or whole exome sequencing in conjunction with transcriptome sequencing to try to identify recurrent genetic alterations (mutations, deletions, amplifications, rearrangements) and/or gene expression signatures that would be important to the hypothesis(es) submitted by the investigators. The samples will be processed and submitted for genomic characterization using pipelines and procedures established within The Cancer Genome Analysis (TCGA) project. Data analysis will be performed as a collaboration between the National Clinical Trials Network (NCTN) Group and its investigators submitting the proposal. The investigators at the NCI-sponsored Genomic Data Analysis Center (GDAC) will characterize the samples. The NCTN Group will be responsible for providing the clinical data needed for the proposal to the open clinical system maintained by NCI CCG's Biospecimen Core Resource (BCR) at Nationwide Children's Hospital in Columbus, Ohio. The project team (Network Group/investigators and GDAC) will analyze the data together. Additionally, clinical and genomic data related to the analyses will also need to be registered by NCI and will be made available to qualified researchers via a controlled-access database (e.g., dbGaP) upon publication of the primary analysis described in the study proposal. A substudy description and its molecular data information are provided under its own page: phs001184 CTSP Diffuse Large B-Cell Lymphoma (DLBCL) CALGB 50303

pht007756.v2.p2

1 ItemGroup 3 elementi

Eligibility Metastatic Renal Cell Carcinoma NCT02330783

- 11.05.19 - 1 modulo, 2 itemgroups, 20 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
Efficacy and Safety of Bevacizumab Plus Sorafenib for the Third-line Treatment in Metastatic Renal Cancer Patients; ODM derived from: https://clinicaltrials.gov/show/NCT02330783

Eligibility Pre- and Postoperative Analgesia NCT02030717

- 17.01.19 - 1 modulo, 2 itemgroups, 10 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
Randomized Study of Spinal Anesthesia Compared With Traditional Epidural Anesthesia Concerning Peroperative and Postoperative Pain After Open Nephrectomy in Patients With Renal Cell Carcinoma; ODM derived from: https://clinicaltrials.gov/show/NCT02030717

Eligibility Carcinoma, Renal Cell NCT01441388

- 20.09.21 - 1 modulo, 2 itemgroups, 10 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
A Study Of Crizotinib Plus VEGF Inhibitor Combinations In Patients With Advanced Solid Tumors.; ODM derived from: https://clinicaltrials.gov/show/NCT01441388

Eligibility Carcinoma, Renal Cell NCT02454478

- 20.09.21 - 1 modulo, 2 itemgroups, 35 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
Study of Lenvatinib in Combination With Everolimus in Patients With Unresectable Advanced or Metastatic Renal Cell Carcinoma (RCC); ODM derived from: https://clinicaltrials.gov/show/NCT02454478

Eligibility Carcinoma, Renal Cell NCT01107509

- 17.10.19 - 1 modulo, 2 itemgroups, 17 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
Pilot Study of Neo-Adjuvant Everolimus to Treat Advanced Renal Cell Carcinoma - Analysis of Biomarkers; ODM derived from: https://clinicaltrials.gov/show/NCT01107509

Eligibility Renal Cell Carcinoma NCT02399124

- 01.07.19 - 1 modulo, 2 itemgroups, 13 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
Post Marketing Surveillance for ICE-SENSE™3 a Cryotherapy Treatment of Renal Cell Carcinoma; ODM derived from: https://clinicaltrials.gov/show/NCT02399124

Eligibility Renal Cell Carcinoma NCT01984242

- 01.07.19 - 1 modulo, 2 itemgroups, 18 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria, Exclusion Criteria
A Phase 2 Study of MPDL3280A (an Engineered Anti-PDL1 Antibody) as Monotherapy or in Combination With Avastin (Bevacizumab) Compared to Sunitinib in Patients With Untreated Advanced Renal Cell Carcinoma; ODM derived from: https://clinicaltrials.gov/show/NCT01984242

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