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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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Data ElementVariables
Substance Use SMOKING
Data ElementVariables
Gastrointestinal Problem GALLBLADDER
Hepatitis
Liver Problem
Data ElementVariables
Genitourinary Problem
Kidney Problem KIDNEY_DISEASE
Priapism PRIAPISM
Renal Dialysis History
Data ElementVariables
Sarcoidosis
Spleen Problem SPLENEC_TOMY
Data ElementVariables
Adverse event
Death
Disability Status
Hospitalization HOSPITAL_6_MONTHS
Medical Event
Serious Adverse Event
Data ElementVariables
Musculoskeletal Problem
Osteomyelitis
Osteonecrosis AVN_HIP
AVN_SHOULDER
Rheumatic Diseases
Data ElementVariables
Meningitis
Neurologic Event
Seizure
Stroke STROKE_6_MONTHS
STROKE_HISTORY
STROKE_SILENT
Transient Ischemic Attack
Data ElementVariables
Ocular Problem
Sickle Retinopathy RETINOPATHY
Data ElementVariables
Abdominal Pain
General Pain CHRONIC_PAIN
Headache
Management
Pain Attack VOE_6_MONTHS
Skeletal and Joint Pain
Data ElementVariables
Birth Outcome
Gestational Age
Menstruation
Pregnancy PREGNANCY
Reproductive Behavior
Data ElementVariables
Acute Chest Syndrome ACS
Asthma ASTHMA
Lung Disease
Other Respiratory Problem
Data ElementVariables
Skin Problem LEG_ULCERS
Data ElementVariables
Address
Age AGE
Ethnic Group ETHNICITY
Gender GENDER
Language
National Origin
Nuclear Family
Race RACE
Data ElementVariables
Annual Income
Education EDUCATION
Employment Status
Household
Insurance
Marital Status
Data ElementVariables
Blood Differential Test ANC
ARC
RETIC_PERCENTAGE
Blood Gases
Blood Smear
Blood Typing
Coagulation Test
Complete Blood Count HEMATOCRIT
HEMOGLOBIN
MCH
MCHC
MCV
PLATELET
RBC
RDW
WBC
Comprehensive Metabolic Panel (CMP) BUN
CREATININE
T_BILI
Enzyme LDH
General
Hemoglobin Typing HB_F
HBA1_HPLC
HBA2_HPLC
HBC_HPLC
HBF_HPLC
HBS_HPLC
HGBA1_EP
HGBA2_EP
HGBC_EP
HGBF_EP
HGBS_EP
Iron FERRITIN
TRANSFERRIN
Data ElementVariables
Abdomen
Anthropometrics HEIGHT
WEIGHT
Cardiovascular
Extremities
General
Liver
Reproductive
Respiratory
Spleen
Vital signs DBP
O2
SBP
Data ElementVariables
Pulmonary Function Test DLCO_ADJUSTED
PFT_FEV1
PFT_FVC
PFT_TLC
Respiratory Test
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
Data ElementVariables
Blood Transfusion LIFETIME_RBC
Chronic Transfusion CHRONIC_RBC
Transfusion Complications
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