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Study Detail

Study ID 1014
Name The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease
Contact Email vsheehan@bcm.edu
Acronym PharmHU
Period 2006 - 2015, 2006 - 2010
Design Prospective cohort study
Study PI Vivien Sheehan
Institution Multiple institutes
URL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001466.v1.p1
CTGovID NA
Funding Agency NHLBI-TOPMed
Grant Number 1U01HL117721-01,3UL1RR024156-04S4
Overview This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. The aim of this study was to use a whole exome sequencing(WES) pharmacogenomics approach to identify genetic predictors of HbF response to hydroxyurea.
Focus Areas 1. Whole Genome Sequencing
2. Identification of novel candidate genes and genetic variants associated with hydroxyrea response.
Outcomes Hydroxyurea-induced HbF response levels (as measured by maximum %HbF at Maximum Tolerated Dose [final HbF] or the change in %HbF from baseline to final [DHbF]).
Data Location dbGaP
Biospecimen Available Blood; DNA; Plasma; Serum;
Data Consent All patients and their families gave informed consent for genomic DNA sample collection, storage, and sequencing. Texas Children’s Hospital Hematology Center patients and their families provided written consent to whole exome sequencing, posting ofsequences to dbGAP, and data collection under BCM Internal Review Board protocol H31356.
Biospecimen Consent All patients and their families gave informed consent for genomic DNA sample collection, storage, and sequencing. Texas Children’s Hospital Hematology Center patients and their families provided written consent to whole exome sequencing, posting ofsequences to dbGAP, and data collection under BCM Internal Review Board protocol H31356.
Contact Consent dbGaP
Genomic Data Yes
Age Range 5-18
No. Participants 740
Inclusion Criteria Pediatric patients with sickle cell anemia and history of hydroxyurea use
Exclusion Criteria
Study Documentation
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Data ElementVariables
Address
Age age
Ethnic Group
Gender gender
Language
National Origin
Nuclear Family
Race race
Data ElementVariables
Blood Differential Test
Blood Gases
Blood Smear
Blood Typing
Coagulation Test
Complete Blood Count
Comprehensive Metabolic Panel (CMP)
Enzyme
General
Hemoglobin Electrophoresis Change_HbF_level
HbF_level_baseline
HbF_level_final
Iron
Data ElementVariables
Antibiotics
Asthma
Blood Medication History
Cardiovascular
Compliance
Current Medication
Depression Medication History
Hydroxyurea HU_dose
Medication
Neurologic Medication History
Pain
SCD Medication
Sildenafil
Supplements
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