New Therapies for Sickle Cell Disease

1. New Therapies for Sickle Cell Disease Public Policy Imperative

2. SCD SPURRED ADVANCES IN MOLECULAR BIOLOGY AND GENETICS FOR A CENTURY James Herrick and Ernest E. Irons at Cook County Hospital in Chicago first described sickle cell disease in a student from Grenada, Walter Clement Noël. He had an anemia marked by red cells that looked like “crescents or sickles”. Noel returned to Grenada after training in dentistry. Vernon Ingram at MRC in London used protein sequencing to demonstrate that HbS derived from a glutamic acid to valine amino acid change at position β-6. The recently elucidated genetic code allowed deduction of the nucleotide change (GAG  GTG). Harvey Itano and Linus Pauling used the newly invented technique of protein electrophoresis to demonstrate that sickle hemoglobin (HbS) differed from normal hemoglobin (HbA). 1949 1956 1910  First demonstration of disease due to an abnormal protein First demonstration of disease due to a specific DNA mutation

3. How Did Clinical Care Progress During a Century of Discovery? How Did Walter Clement Noël fare with his sickle cell disease?

4. CLINICAL CARE CONTINUES TO LAG SCIENCE How can we mobilize public policy to address the deficit in new therapies? 50 Hydroxyurea 90% of Children reach 18 years of age Median life expectancy: Males- 42 years Females- 48 years 45 FDA Approval Preventive penicillin 40 35 Transfusion for stroke prevention 30 Life Expectancy (yr) 25 National Sickle Cell Control Act 20 15 10 Practice uptake of prophylactic penicillin based on early trials 5 0 1900 1910 1920 1930 1940 1950 1960 1970 1980 1990 2000 Increases in Life Expectancy in Persons with Sickle Cell Disease, 1910–2000.

5. Addressing Policy- Local Level HCPs Advocates & Warriors • 17 Key States • State Leaders • State Legislatures • Local Warriors • Local Advocates • CA Legislation • AB 1488 • SCD center pilot program • Telehealth system • Online Consultation Action Pending…

6. Addressing Policy- National Level

7. Anatomy of a Bill 1972 National Sickle Cell Anemia Control Act

8. 1972 Sickle Cell Anemia Control Act Called For  Education and information Voluntary screening, testing, counseling  research, and treatment programs Hydroxyurea Treatment of Sickle Cell Disease Pediatric Prophylactic Penicillin Study NIH-Sponsored Comprehensive Sickle Cell Centers Program State-Sponsored Sickle Cell Screening Programs

9. SCD Legislation: Fading and Rebirth Public Policy Activism • primary and secondary preventative medical strategies, treatment, and services, including genetic counseling and testing • a demonstration program for the development and establishment of systemic mechanisms, including a National Coordinating Center, to improve the prevention and treatment of Sickle Cell Disease Political Apathy 1972 National Sickle Cell Anemia Control Act Budget Cuts Sickle Cell Treatment Act of 2003

10. Public Policy Activism: Important Payoffs HRSA Division of Children with Special Healthcare Needs Sickle Cell and Newborn Screening Program Sickle Cell Disease Treatment Demonstration Program • Enhance access to comprehensive care, education and counseling for newborns and families • develop partnerships among State Title V and State newborn screening programs, local community-based SCD support organizations, comprehensive SCD treatment centers, and community-based clinicians • Increase primary provider access • Provide coordinated and comprehensive services for Warriors, families and carriers • 5 ongoing regional projects

11. Public Policy Activism: Still Needed Sickle Cell Disease Research, Surveillance, Prevention, and Treatment Act of 2017 •  collect data on the prevalence and distribution of sickle cell disease • conduct sickle cell disease public health initiatives to improve access to care and health outcomes • identify and evaluate strategies for prevention and treatment of sickle cell disease complications. “We cannot have a situation develop where a breakthrough sickle cell disease drug is approved for the benefit of patients … but there are disincentives for hospitals to use these new therapies” “Time lost is never found” House: Passed Senate: Action pending

12. Your involvement is needed more than ever “Of all the forms of inequality, injustice in health care is the most shocking and inhumane”

13. Thank You