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Study Detail

Study ID 1013
Name Outcome Modifying Genes in Sickle Cell Disease
Contact Email allison.ashleykoch@duke.edu
Acronym OMG-SCD
Period 2002 -
Design Cross-sectional study
Study PI Allison Ashley-Koch, Marilyn Telen
Institution Multiple institutes
URL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001608.v1.p1
CTGovID NA
Funding Agency NHLBI-TOPMed
Overview This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. OMB-SCD was designed to identify genetic factors that predispose SCD patients to develop specific end-organ complications and to experience more or less severe clinical courses.
Focus Areas 1. Whole Genome Sequencing
2. The relationship of clinical characteristics (Hb genotype, hematologic, cardiopulmonary, neurologic, renal, hepatobiliary, musculoskeletal/cutaneous, pain, biomarkers, hydroxyurea therapy) with survival
3. Identification of molecular phenotypes and biomarkers that may be useful targets for SCD treatment
4. The relationship of severity of organ damage on survival
Outcomes 1. The primary endpoint was death during the follow-up period.
2. Comorbidities associated with decreased survival
3. Contributors to early mortality among SCD patients
4. Specific targeted outcomes (overall disease severity as well as specific types of end organ damage)
Data Location dbGaP
Biospecimen Available Blood; DNA; Plasma; Serum; Urine;
Data Consent dbGaP
Biospecimen Consent dbGaP
Contact Consent dbGaP
Genomic Data Yes
Age Range 18-38
No. Participants 642
Inclusion Criteria Adult subjects (= 18 years of age at the time of enrollment), diagnosed with sickle cell disease (Hb SS, SC, Sß0, or Sß+) by hemoglobin electrophoresis, globin synthesis gene studies, or genetic analysis.
Exclusion Criteria Blood transfusion within 90 days of enrollment
Study Documentation
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Data ElementVariables
Address
Age age
Ethnic Group
Gender sex
Language
National Origin
Nuclear Family
Race
Data ElementVariables
Blood Differential Test
Blood Gases
Blood Smear
Blood Typing
Coagulation Test
Complete Blood Count c_hct_ave
c_hgb_ave
c_mch_ave
c_mchc_ave
c_mcv_ave
c_platelets_ave
c_rbc_ave
c_retic_ave
c_wbc_ave
p_hct_ave
p_hgb_ave
p_mch_ave
p_mchc_ave
p_mcv_ave
p_platelets_ave
p_rbc_ave
p_retic_ave
p_wbc_ave
Comprehensive Metabolic Panel (CMP)
Enzyme
General
Hemoglobin Electrophoresis hb_diagnosis
Iron
Data ElementVariables
Abdomen
Anthropometrics cm_height
kg_weight
Cardiovascular
Extremities
General
Liver
Reproductive
Respiratory
Spleen
Vital signs bp_diastol
bp_systol
Data ElementVariables
Antibiotics
Asthma
Blood Medication History
Cardiovascular
Compliance
Current Medication
Depression Medication History
Hydroxyurea hu
Medication
Neurologic Medication History
Pain
SCD Medication
Sildenafil
Supplements
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