10/30/2017 1 2017 Alabama Newborn Screening Conference 2017 Alabama Newborn Screening Conference Marriott Hotel and Conference Center Prattville, Alabama Friday, August 18, 2017 Marriott Hotel and Conference Center Prattville, Alabama Friday, August 18, 2017 Newborn Screening for Sickle Cell Disease Newborn Screening for Sickle Cell Disease Felicia L. Wilson, M.D. Professor of Pediatrics Director, Division of Hematology / Oncology University of South Alabama Felicia L. Wilson, M.D. Professor of Pediatrics Director, Division of Hematology / Oncology University of South Alabama Disclosures Disclosures • Medical Consultant and Speaker Bureau for Novartis Pharmaceuticals, Inc. • Grant funding from the Children’s • Medical Consultant and Speaker Bureau for Novartis Pharmaceuticals, Inc. • Grant funding from the Children’s Oncology Group • Grant funding from the Alabama Department of Public Health Oncology Group • Grant funding from the Alabama Department of Public Health Disclosures Disclosures • Clinical trial agreement with Selexys Pharmaceuticals Corporation with Quintiles providing clinical research organization services • Clinical trial agreement with Selexys Pharmaceuticals Corporation with Quintiles providing clinical research organization services • I will discuss off label use or investigational uses • I will discuss off label use or investigational uses Sickle Cell Disease Sickle Cell Disease • Sickle cell disease is a genetic blood disorder that affects the hemoglobin protein within the • Sickle cell disease is a genetic blood disorder that affects the hemoglobin protein within the protein within the red blood cells that carries oxygen to all parts of the body protein within the red blood cells that carries oxygen to all parts of the body Sickle Cell Disease Sickle Cell Disease • Normal red blood cells are flexible and flow freely within a blood vessel Th l t • Normal red blood cells are flexible and flow freely within a blood vessel Th l t • They last an average of 120 days in the bloodstream • They last an average of 120 days in the bloodstream
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Marriott Hotel and Conference CenterPrattville, Alabama
Friday, August 18, 2017
Marriott Hotel and Conference CenterPrattville, Alabama
Friday, August 18, 2017
Newborn Screening for Sickle Cell Disease
Newborn Screening for Sickle Cell Disease
Felicia L. Wilson, M.D.
Professor of Pediatrics
Director, Division of Hematology / Oncology
University of South Alabama
Felicia L. Wilson, M.D.
Professor of Pediatrics
Director, Division of Hematology / Oncology
University of South Alabama
DisclosuresDisclosures• Medical Consultant and Speaker
Bureau for Novartis Pharmaceuticals,
Inc.
• Grant funding from the Children’s
• Medical Consultant and Speaker
Bureau for Novartis Pharmaceuticals,
Inc.
• Grant funding from the Children’s g
Oncology Group
• Grant funding from the Alabama
Department of Public Health
g
Oncology Group
• Grant funding from the Alabama
Department of Public Health
DisclosuresDisclosures• Clinical trial agreement with Selexys
Pharmaceuticals Corporation with
Quintiles providing clinical research
organization services
• Clinical trial agreement with Selexys
Pharmaceuticals Corporation with
Quintiles providing clinical research
organization services
• I will discuss off label use or
investigational uses
• I will discuss off label use or
investigational uses
Sickle Cell DiseaseSickle Cell Disease
• Sickle cell disease is a genetic blood disorder that affects the hemoglobin protein within the
• Sickle cell disease is a genetic blood disorder that affects the hemoglobin protein within theprotein within the red blood cells that carries oxygen to all parts of the body
protein within the red blood cells that carries oxygen to all parts of the body
Sickle Cell DiseaseSickle Cell Disease
• Normal red blood cells are flexible and flow freely within a blood vessel
Th l t
• Normal red blood cells are flexible and flow freely within a blood vessel
Th l t• They last an average of 120 days in the bloodstream
• They last an average of 120 days in the bloodstream
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Sickle Cell DiseaseSickle Cell Disease
• Sickle cells are rigid and tend to stick to the blood vessel which blocks blood flow to areas of the b d
• Sickle cells are rigid and tend to stick to the blood vessel which blocks blood flow to areas of the b dbody
• They last an average of 19 days in the bloodstream
body
• They last an average of 19 days in the bloodstream
Sickle Cell DiseaseSickle Cell Disease
• This abnormality can result in chronic anemia, serious infections, severe painful episodes, strokes damage to
• This abnormality can result in chronic anemia, serious infections, severe painful episodes, strokes damage tostrokes, damage to body organs, and early death
strokes, damage to body organs, and early death
Sickle Cell DiseaseSickle Cell Disease
• In the 1970s, SCD
was recognized as
a major public
health concern
• In the 1970s, SCD
was recognized as
a major public
health concernhealth concern
• 20% children were
dead by age 3
health concern
• 20% children were
dead by age 3
Sickle Cell DiseaseSickle Cell Disease
• 50% died before
the age of 20 years
• The average
• 50% died before
the age of 20 years
• The average
lifespan was only
14 years
lifespan was only
14 years
Cooperative Study of Sickle Cell Disease
Cooperative Study of Sickle Cell Disease
• Initiated in 1978 by the National Institutes of Health to gather data prospectively on the natural history of SCD
• Initiated in 1978 by the National Institutes of Health to gather data prospectively on the natural history of SCDof SCD
• Cohort of 2824 patients registered, followed, and managed (4007 registered)
• 23 clinical centers in the US
of SCD
• Cohort of 2824 patients registered, followed, and managed (4007 registered)
• 23 clinical centers in the US
CSSCD Mortality DataCSSCD Mortality Data
Infection Infection -- major cause of morbidity major cause of morbidity and and mortality mortality S. S. pneumoniaepneumoniae -- most common during early most common during early childhood. Enteric childhood. Enteric organisms emerge as important organisms emerge as important pathogens in older patientspathogens in older patientsLeinkenLeinken et al. Pediatrics. 1989;84:500.et al. Pediatrics. 1989;84:500.
Health Maintenance Screenings for SCDHealth Maintenance Screenings for SCD
DelayedPuberty Xrays, MRI
Fever – w/uinfections in thebloodstream &
body tissues
Leg ulcers
Immunizations
RBC Transfusions Play a Major Role in the Management of
SCD Complications
RBC Transfusions Play a Major Role in the Management of
SCD Complications
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Multicenter National Trial Multicenter National Trial –– 19911991FDA approved FDA approved 1995 for age 18 years and older1995 for age 18 years and older50% reduction in pain crises, ACS and need for 50% reduction in pain crises, ACS and need for transfusiontransfusion40% reduction in deaths40% reduction in deaths
To date, > To date, > 1000 1000 Bone Marrow Bone Marrow Transplants have Transplants have been performed been performed
d th ldd th ld
The CureThe Cure
around the world around the world for Sickle for Sickle Cell Cell DiseaseDisease
Outcome after transplantation for 50 children with advanced, Outcome after transplantation for 50 children with advanced, symptomatic sickle cell symptomatic sickle cell disease.Kaplandisease.Kaplan--Meier estimates for Meier estimates for
survival and eventsurvival and event--free survival following marrow free survival following marrow transplantation are transplantation are shownshown