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Study Detail

Study ID 1016
Name Howard University Center for Sickle Cell Disease Study
Contact Email snekhai@Howard.edu
Acronym PUSH_SCD
Period 2005-2011
Design Case-Control
Study PI Sergei Nekhai
Institution Multiple institutes
URL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001682.v1.p1
CTGovID https://clinicaltrials.gov/ct2/show/NCT00495638
Funding Agency NHLBI-TOPMed
Grant Number 5R01HL079912-02
Overview This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. The study will look at the risk factors for pulmonary hypertension (high blood pressure in the lungs) in children and adolescents with sickle cell anemia (SCA) and examine the role of hypoxia (oxygen shortage) in the disease.
Focus Areas 1. Whole Genome Sequencing
2. 6-Minute Walk
3. Sickle Cell Anemia
4. Pulmonary Function Tests
5. Sickle Cell Disease
6. Pulmonary Hypertension
7. Chuvash Polycythemia
8. Echocardiogram
Outcomes Clinical factors associated with patient-reported history of one or more acute pulmonary events, either acute chest syndrome (ACS) or pneumonia, in patients with SCD.
Data Location dbGaP, BioData Catalyst
Biospecimen Available Blood; DNA; Plasma; Serum;
Data Consent Patients or their parents will be approached and asked to give informed consent. If they appear to have difficulty reading, reading of the consent will be offered. Patients or their parents not appearing to comprehend the consent will not be eligible. As a part of this visit, each participant or parent will sign informed consent.
Biospecimen Consent Patients or their parents will be approached and asked to give informed consent. If they appear to have difficulty reading, reading of the consent will be offered. Patients or their parents not appearing to comprehend the consent will not be eligible. As a part of this visit, each participant or parent will sign informed consent.
Contact Consent dbGaP
Genomic Data Yes
Age Range 3-20
No. Participants 432
Inclusion Criteria 1. Ability to give assent or informed consent on the part of the participant, parent or legal guardian as appropriate.
2. Age of 3 to 20 years.
3. Diagnosis of sickle cell disease (electrophoretic or HPLC documentation of SS, SC, S-ß-thalassemia or other major sickling phenotype such as SD, SO-Arab or SLepore is required).
Exclusion Criteria 1. Presence of a pain crisis that prevents patient from engaging in normal activities.
2. Presence of acute infection, injury, surgery, asthmatic episode or other acute complication
3. Hemoglobin A only phenotype, hemoglobin S trait or hemoglobin C trait.
4. Less than three weeks has elapsed since hospitalization, ER visit, or Doctor's Office visit for pain crisis, acute chest syndrome, infection or other complication of SCD.
Study Documentation
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