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dbGaP phs000726 Genome-wide Association Study of Myasthenia Gravis - pht003777.v1.p1

- 28/12/2022 - 5 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio
ItemGroup: pht003777
Principal Investigator: Bryan J. Traynor, PhD, M.D, National Institutes of Health, Bethesda, MD, USA MeSH: Myasthenia gravis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000726 The purpose of this project was to conduct a genome-wide associate study to search for the genetic factors that predispose to myasthenia gravis. The rationale for this study lies in the fact that, although the immunological and physiological processes affecting the neuromuscular junctions of myasthenia gravis patients are well understood, the spectrum of genetic factors that predispose to myasthenia gravis and influence its disease manifestations are not well known. Identification of the myasthenia gravis-related genes will shed light on the fundamental cellular events underlying myasthenia gravis, and will provide focus for research aimed at developing therapies that alter the natural course of the disease. A consortium of fourteen institutions in North America collected DNA samples from 1028 people diagnosed with autoimmune myasthenia gravis. Relevant clinical data have been collected for each patient, including age of onset, severity of disease, response to drug therapy, personal and family history of other autoimmune diseases. Genotyping of the case cohort was performed in the Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD. Genotyping of the case cohort was performed using the HumanOmniExpress-12v1_C SNP array manufactured by Illumina Inc. For the control cohort, we downloaded genotype data from dbGAP (accession phs000196.v2.p1) for 1,998 US neurologically normal individuals. The control cohort had been previously genotyped at the Center for Inherited Disease Research at Johns Hopkins University on HumanOmni1-Quad version 1.0B beadchips (Illumina) as part of the NeuroGenetics Research Consortium GWAS of Parkinson's disease. Analyses were confined to the 677,673 autosomal SNPs that were common to both chips. Of the 1028 samples which were genotyped, 21 samples were excluded due to mismatched genders, 9 were excluded due to low genotype call rate, 5 samples were excluded as duplicates, and 25 samples were excluded as ethnic outliers. The remaining 972 samples were used in analysis.

pht003778.v1.p1

1 ItemGroup 4 elementi

Eligibility

1 ItemGroup 6 elementi

pht003779.v1.p1

1 ItemGroup 6 elementi

pht003780.v1.p1

1 ItemGroup 5 elementi

Clinical activity of recMAGE-A3 + AS15 in patients with metastatic cutaneous melanoma NCT00942162 - Immune Mediated Disease Report; General Medical History; Relevant Risk Factors; Neurological Events; Myasthenia Gravis; Uveitis (Report Final and Annex Report 2 Final)

- 02/11/2020 - 1 modulo, 31 itemgroups, 114 elementi, 1 linguaggio
Itemgroups: Administrative, IMD Report, General Medical History, General Medical History , Relevant risk factors, Neurological Events, Neurological Events - Signs and Symptoms, Neurological Events - Signs and Symptoms - Seizures, Neurological Events - Signs and Symptoms, Neurological Events - Other signs and symptoms, Neurological Events - Other signs and symptoms , Neurological Events - Diagnostic Test Results, Neurological Events - Other Diagnostic Test Results , Neurological Events - Other Diagnostic Test Results , Neurological Events - Other diagnostic Procedure, Myasthenia Gravis, Myasthenia Gravis - Signs and symptoms (supporting the final diagnosis), Myasthenia Gravis - Other Signs and symptoms, Myasthenia Gravis - Other Signs and symptoms , Myasthenia Gravis - Diagnostic Test Results, Myasthenia Gravis - Other Diagnostic Test Results , Myasthenia Gravis - Other Diagnostic Test Results , Myasthenia Gravis - Other diagnostic Procedure , Uveitis, Uveitis - Signs and symptoms (supporting the final diagnosis), Uveitis - Other Signs and symptoms , Uveitis - Other Signs and symptoms , Uveitis - Diagnostic Test Results , Uveitis - Other Diagnostic Test Results , Uveitis - Other Diagnostic Test Results , Uveitis - Other diagnostic Procedure
Study ID: 111476 Clinical Study ID: 111476 Study Title: An open, single-arm trial to assess the clinical activity of recMAGE-A3 + AS15 in patients with unresectable MAGE-A3-positive metastatic cutaneous melanoma Patient Level Data: Study Listed on ClinicalStudyDataRequest.com Clinicaltrials.gov Identifier: NCT00942162 Sponsor: GlaxoSmithKline Phase: Phase 2 Study Recruitment Status: Completed Generic Name: Antigen-Specific Cancer Immunotherapeutic Study Indication: Melanoma

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