ID
45561
Descripción
Principal Investigator: Richard A. Gibbs, PhD, Baylor College of Medicine, Houston, TX, USA MeSH: Anemia, Sickle Cell https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000691 Sickle cell disease (SCD) is a severe debilitating hematological disorder associated with a high degree of morbidity and mortality. There are approximately 200,000 babies born with sickle cell disease each year, with the disease predominately affecting individuals in Africa. The overall global burden of the disease is tremendous, with more than 100,000 patients currently in the US and further millions worldwide. The governing bodies of the World Health Organization have recently adopted a resolution to strengthen the response to sickle disease in all affected countries and there is a definite need for high quality sickle cell disease research that has the potential to improve the treatment and prognosis of patients with this devastating disease. The clinical manifestations of SCD arise from a complex pathophysiology that includes hemolysis, acute vaso-occlusion, endothelial dysfunction, inflammation, and chronic organ damage. While the individual clinical course of this disease is highly variable, many of the associated complications demonstrate some degree of heritability. Intensive research into identifying genetic modifiers that can affect the pathophysiology of SCD has been limited to date and there is an urgent need to improve of our knowledge the molecular mechanisms underlying the clinical complications of SCD. The Sickle cell CIP project is investigating complication of stroke and pharmacogenomics of hydroxyurea response in patients with sickle cell anemia. The major benefit of hydroxyurea comes from its ability to induce fetal hemoglobin (HbF) and higher HbF levels are associated with reduced morbidity and mortality in SCA patients. We will perform whole exome and whole genome sequencing of SCA patients in order to identify genome variants associated with incidences of stroke and HbF response to hydroxyurea.
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Versiones (1)
- 13/1/23 13/1/23 - Chiara Middel
Titular de derechos de autor
Richard A. Gibbs, PhD, Baylor College of Medicine, Houston, TX, USA
Subido en
13 de enero de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000691 CIP: Differential Response to Hydroxyurea and Incidence of Stroke in Sickle Cell Disease
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent file contains subject IDs, consent information, affection status, and subject aliases.
- This subject sample mapping file contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes subject gender, age that hydroxyurea was initiated, maximum tolerated hydroxyurea dose, baseline fetal hemoglobin level, fetal hemoglobin level at the maximum tolerated dose (MTD) of hydroxyurea, and delta of fetal hemoglobin levels between baseline and MTD.
- This subject phenotype table includes subject gender, age that hydroxyurea was initiated, maximum tolerated hydroxyurea dose, baseline fetal hemoglobin level, fetal hemoglobin level at the maximum tolerated dose (MTD) of hydroxyurea, and delta of fetal hemoglobin levels between baseline and MTD.
- This sample attributes table includes body site where sample was extracted and analyte type.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent file contains subject IDs, consent information, affection status, and subject aliases.
- This subject sample mapping file contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes subject gender, age that hydroxyurea was initiated, maximum tolerated hydroxyurea dose, baseline fetal hemoglobin level, fetal hemoglobin level at the maximum tolerated dose (MTD) of hydroxyurea, and delta of fetal hemoglobin levels between baseline and MTD.
- This subject phenotype table includes subject gender, age that hydroxyurea was initiated, maximum tolerated hydroxyurea dose, baseline fetal hemoglobin level, fetal hemoglobin level at the maximum tolerated dose (MTD) of hydroxyurea, and delta of fetal hemoglobin levels between baseline and MTD.
- This sample attributes table includes body site where sample was extracted and analyte type.
C0680251 (UMLS CUI [1,2])
C0002895 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C0262926 (UMLS CUI [2,1])
C1524063 (UMLS CUI [2,2])
C0020402 (UMLS CUI [2,3])
C3887511 (UMLS CUI [2,4])
C0458082 (UMLS CUI [2,5])
C0854467 (UMLS CUI [2,6])
C0948762 (UMLS CUI [2,7])
C0002895 (UMLS CUI [3,1])
C0262926 (UMLS CUI [3,2])
C5400991 (UMLS CUI [3,3])
C5236167 (UMLS CUI [1,2])