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NHLBI TOPMed: Pulmonary Hypertension and the Hypoxic Response in SCD (PUSH)

phs001682.v1.p1dbGapdbGap FHIR

Description

During Visit One, the PUSH Study will perform echocardiography on 600 children and adolescent with patients with SCD and 100 control children and adolescents at three Field Centers, namely Howard University, Children's National Medical Center and University of Michigan. 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, complete a Participant Contact Information Form, complete a Medical History Form, undergo physical examination with completion of a Physical Examination Form and have blood drawn. Each participant must have echocardiography performed with measurement of Tricuspid Regurgitant Jet Velocity (TRV). In addition attempts will be made 1) to perform a six-minute walk test, 2) to collect information from a recent (within six months) Transcranial Doppler Study (TCD) or to perform TCD, and 3) to perform pulmonary function tests. Study personnel will review all forms for completeness and conduct phlebotomy. Blood will be shipped to the Central Lab. Results of all procedures and tests will be transmitted to the Data Manager at Howard University. Sequencing was only done on sickle cell participants.

Summary

PlatformsBDC
Consent CodesDS-SCD-IRB-PUB-COL
Focus / DiseasesAnemia, Sickle Cell
Study DesignCase-Control
Data TypesSNP/CNV Genotypes (NGS), WGS
Subjects432