PhenX-Sickle Cell Disease Project

at the National Heart, Lung, and Blood Institute/NIH

Ellen M. Werner, Ph.D.Program Director

Blood Epidemiology and Clinical Therapeutics BranchNational Heart, Lung, and Blood Institute

January 7, 2015

2

Genesis of PhenX-SCD Project NHLBI Clinical Practice Recommendations NHLBI and other HHS op divs have had sought to collaborate

HP2020 Registry and Surveillance in Hemoglobinopathies (RuSH) pilot HRSA NBS (with NICHD, CDC), SCD and Thalassemia

Treatment Demonstration Programs

Goal: Establish consensus measures/identify common data elements (CDEs) in SCD

To enable collaborations For data comparison, validation, replication, harmonization

September 2010-Summer 2014 (unfunded)

Hemoglobinopathies Uniform Medical Language Ontology (HUMLO)

Summer 2014-April 2015 (funded)

PhenX-SCD

NHLBI Re-organization

Division of Blood Diseases and Resources Molecular Cellular and Systems Blood Science Branch Translational Blood Science and Resources Branch Blood Epidemiology and Clinical Therapeutics Branch

Center for Translation Research and Implementation Science Health Inequities and Global Health Branch Implementation Science Branch Translation Research Branch

Re-organization (continued)

T3T2

Biomedical ModelBiomedical and Socioecological

Model

Bench Research• Fundamental

Discovery Science

– Animal Studies

Bedside• 1st Human Studies

• Controlled Observations

• Phase I Clinical Trials

Patients•  Phase II and III

Clinical Trials

Practices• Phase IV Clinical Trials

• Comparative Effectiveness Research

Real World Setting• Dissemination and

Implementation Research

T1Discovery Science

Translation to Humans

Translation to Patients

Translation to Clinical Practices

Translation to Real World

SettingsT4

Focusing on Clinical and Translational Research

Mensah. Global Heart September 2013;8(3): 283-284. Based on and informed by the models of Khoury et al. Genet Med 2007;9:665-74, and the

Harvard Catalyst; The Harvard Clinical and Translational Science Center, available at: http://catalyst.harvard.edu/pathfinder/. Accessed August 28, 2013. 5

Translational Research – What Is It?

T3 tests WHICH interventions work

T4 tests HOW to deliver them in real world setting