ID

44948

Beschrijving

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

Trefwoorden

  1. 22-04-22 22-04-22 - Martin Dugas
  2. 12-05-22 12-05-22 - Martin Dugas
  3. 12-10-22 12-10-22 - Adrian Schulz
  4. 26-06-23 26-06-23 - Dr. Christian Niklas
Houder van rechten

Bibiana Bielekova, PhD. National Institutes of Health, Bethesda, MD, USA

Geüploaded op

12 mei 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs001833 Genetic Model of MS Severity Predicts Future Accumulation of Disability

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.

Data dictionary
Beschrijving

Data dictionary

Sample ID
Beschrijving

SAMPLE_ID

Datatype

string

Alias
UMLS CUI [1,1]
C1299222
Body site where sample was collected
Beschrijving

BODY_SITE

Datatype

integer

Alias
UMLS CUI [1,1]
C1515974
Analyte type
Beschrijving

ANALYTE_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C4744818
Cell or tissue subtype of sample
Beschrijving

HISTOLOGICAL_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C0449574
Tumor status
Beschrijving

IS_TUMOR

Datatype

text

Alias
UMLS CUI [1,1]
C0475752

Similar models

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.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Data dictionary
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
BODY_SITE
Item
Body site where sample was collected
integer
C1515974 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Cell or tissue subtype of sample
string
C0449574 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (N)
CL Item
Is tumor (Y)

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