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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
Grant Number 1R01HL068959-01
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, BioData Catalyst
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
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