ID
44948
Beschreibung
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001833.v1.p1 NCT00794352 The goal of "Comprehensive Multimodal Analysis of Neuroimmunological Diseases of the CNS" is to define the pathophysiological mechanisms underlying the development of disability in immune-mediated disorders of the central nervous system (CNS) and to distinguish these from physiological (and often beneficial) responses of the human immune system to CNS injury. The long-term objective of the trial is to acquire knowledge that would allow us to therapeutically inhibit the pathogenic mechanisms and enhance repair mechanisms in immune-mediated CNS diseases, thereby minimizing the extent of CNS tissue damage and promoting recovery. To date, 460 patients with a confirmed diagnosis of multiple sclerosis (MS) have been enrolled into the natural history clinical trial. In addition to standardized clinical, functional, neuroimaging and molecular/immunological data, blood samples were also collected for genetic research. However, only 299 study participants with confirmed MS currently have whole genome sequencing data available. In addition to the genome-wide data available for the 299 MS patients, this dbGaP submission provides demographic and phenotypic information for each subject collected at various points throughout the trial. We include race and family history of MS collected at the baseline visit as well as age and measures of disease severity collected at the most recent visit. As these data were randomized into discovery and validation cohorts, we also indicate the assigned group in the phenotypic data. It is hoped that these data may be applied to the development of clinically-useful tools such as diagnostic tests and new, sensitive scales of neurological disability, disease severity and CNS tissue destruction. Principal Investigator: Bibiana Bielekova, PhD. National Institutes of Health, Bethesda, MD, USA Funding Sources: Intramural Research Program of the National Institute of Allergy and Infectious Diseases. National Institutes of Health, Bethesda, MD, USA Acknowledgement Statement: Please cite/reference the use of dbGaP data by including the dbGaP accession phs001833.v1.p1.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001833.v1.p1
Stichworte
Versionen (4)
- 22.04.22 22.04.22 - Martin Dugas
- 12.05.22 12.05.22 - Martin Dugas
- 12.10.22 12.10.22 - Adrian Schulz
- 26.06.23 26.06.23 - Dr. Christian Niklas
Rechteinhaber
Bibiana Bielekova, PhD. National Institutes of Health, Bethesda, MD, USA
Hochgeladen am
12. Mai 2022
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs001833 Genetic Model of MS Severity Predicts Future Accumulation of Disability
Dataset pht009150.v1.p1: subject consent data table
- StudyEvent: NCT00794352
- Dataset pht009150.v1.p1: subject consent data table
- Dataset pht009151.v1.p1: mapping of study subject IDs to sample IDs
- Dataset pht009152.v1.p1: MS_Severity_Subject_Phenotypes: This subject phenotypes data table includes multiple sclerosis disease severity scale, self-reported family history of multiple sclerosis, subject gender, age, race, and cohort information.
- Dataset pht009153.v1.p1: MS_Severity_Sample_Attributes: This sample attributes table includes the body site where samples were collected, analyte type, histological type of sample, and the sample tumor status.
Ähnliche Modelle
Dataset pht009150.v1.p1: subject consent data table
- StudyEvent: NCT00794352
- Dataset pht009150.v1.p1: subject consent data table
- Dataset pht009151.v1.p1: mapping of study subject IDs to sample IDs
- Dataset pht009152.v1.p1: MS_Severity_Subject_Phenotypes: This subject phenotypes data table includes multiple sclerosis disease severity scale, self-reported family history of multiple sclerosis, subject gender, age, race, and cohort information.
- Dataset pht009153.v1.p1: MS_Severity_Sample_Attributes: This sample attributes table includes the body site where samples were collected, analyte type, histological type of sample, and the sample tumor status.
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