Sickle Cell Center

Sickle Cell Research at The Children's Hospital of Philadelphia

The Children's Hospital of Philadelphia has a longstanding commitment to sickle cell disease research. More than 25 years ago, the Division of Hematology, to which the Sickle Cell Center belongs, initiated a chronic transfusion program for the prevention of stroke recurrence in children with sickle cell disease. Chronic transfusion for stroke prevention is now the standard of care for sickle cell patients at high risk of stroke.

Recent and ongoing research studies

Our recent and ongoing studies are funded by the National Institutes of Health (NIH), the NIH-funded Comprehensive Sickle Cell Center Program, non-governmental funding agencies, corporations, and community organizations and individuals. We are one of 10 Comprehensive Sickle Cell centers in the nation funded on a competitive basis by the NIH's National Heart, Lung and Blood Institute. Our studies include:

NIH-funded projects

Pulmonary complications in sickle cell disease

The goal of this study is to investigate the incidence of oxyhemoglobin desaturation (OHD) and explore its mechanisms. In persistent or intermittent OHD, blood does not carry sufficient oxygen for healthy functioning of the body. This can result in an increased risk of stroke, sleep disorders, pain episodes and acute chest syndrome, a pneumonia-like illness that is one of the most severe complications of sickle cell disease. A team of hematologists, pulmonologists, vascular biology experts, and pulmonary and neuroimaging experts are involved in the study. The study includes research investigators at the University of Pennsylvania School of Medicine, Rutgers University, Johns Hopkins University and Albert Einstein College of Medicine.
Principal investigator: Kwaku Ohene-Frempong, MD, The Children's Hospital of Philadelphia

Sickle cell ongoing radiology evaluation (SCORE)

Young children with sickle cell disease may develop "silent" strokes that can be seen only by special radiology techniques. The SCORE study's purpose is to find new imaging methods, such as advanced magnetic resonance imaging techniques and transcranial color Doppler sonography, that can detect strokes earlier than current methods.
Principal investigator: Elias Melhem, MD, Hospital of the University of Pennsylvania, with members of the The Children's Hospital of Philadelphia, Division of Hematology

Stroke with transfusions changing to hydroxyurea (SWiTCH)

This Phase III randomized, multi-center, clinical trial compares standard therapy to prevent repeated stroke and the management of iron overload in pediatric patients (red cell transfusions and iron chelation) with an alternative therapy consisting of the medication, hydroxyurea, combined with phlebotomy, which is the removal of red blood cells.
Principal investigator: Janet Kwiatkowski, MD, The Children's Hospital of Philadelphia


NIH-funded Comprehensive Sickle Cell Center projects

Nutrition supplementation studies in sickle cell disease

Children with sickle cell disease (SCD) are recognized to have poor growth and delayed maturation, especially those with SCD-SS. This project is examining the roles of both vitamins A and B6 in improving health outcomes, growth and nutritional status.
Principal investigator: Virginia Stallings, MD, The Children's Hospital of Philadelphia

Incidence of infection in young children with sickle cell disease in Africa

The feasibility of newborn screening in the African nation Ghana has been studied since 1993 through the Comprehensive Sickle Cell Center. In the first 10 years of the program, more than 200,000 newborns were screened. The second phase of the research will determine the incidence and causes of the presence of bacteria in the blood and risk factors for such infection. Acute malarial infection is also being studied in these children.
Principal investigator: Kwaku Ohene-Frempong, MD, The Children's Hospital of Philadelphia

Controlled pain interaction for adolescents with sickle cell disease

A critical component in treating sickle cell disease is pain management. The goal of this study is to find out whether a pain management program that does not involve the use of medications will reduce pain and the number of hospital stays. The study is also examining whether increased knowledge of sickle cell disease by adolescent patients will help reduce pain and hospital visits.
Principal investigator: Jerilynn Radcliffe, PhD, The Children's Hospital of Philadelphia

Transfusion therapy for young children at risk for severe sickle cell disease

This study will determine the feasibility of chronic red cell transfusion therapy (cRCT) for at least 12 months in young children at moderate-to-high risk for severe complications of sickle cell disease. The study also addresses whether cRCT therapy in 2- to 3-year-old children with high-risk features of the disease will reduce painful episodes, acute chest episodes, and neurologic complications. Red cell antigen matching is also being studied.
Principal investigator: Kim Smith-Whitley, MD, The Children's Hospital of Philadelphia

Identification of structure-based antisickling peptides that inhibit Hb S polymerization

In sickle cell disease, hemoglobin molecules under certain conditions aggregate to form polymers, which in turn cause distortion of red blood cells. This study explores the role of various amino acids within the hemoglobin molecule involved in polymerization; the ultimate goal is to develop agents, which could include peptides, that inhibit polymerization.
Principal investigator: Kazuhiko Adachi, PhD, The Children's Hospital of Philadelphia

Novel approaches to increase gamma-globin expression in sickle cell disease

Sickle cell disease is caused by one mutation in a gene for the beta globin chain, which is one of the two major chains (alpha and beta chains) that make up the adult hemoglobin molecule. In fetal and early infant life, the beta chain is replaced by the gamma chain. This is called fetal hemoglobin. In some people, fairly large percentages of fetal hemoglobin persist into adulthood. People with sickle cell disease who have elevated levels of fetal hemoglobin have a milder clinical course than those who do not. This project aims to develop strategies to increase the level of fetal hemoglobin in people with sickle cell disease.
Principal investigator: Gerd Blobel, MD, PhD, The Children's Hospital of Philadelphia

Fetal tolerance, chimerism and sickle cell disease

Hematopoietic stem cell transplantation in utero (IUHSCTx) is a promising approach for the treatment of a variety of hematologic disorders. The long-term goals of this project are to develop strategies that will allow for engraftment of stem cells in a mouse model of sickle cell disease sufficient to ameliorate symptoms of the disease.
Principal investigator: Alan Flake, MD, The Children's Hospital of Philadelphia

Mechanistic basis for beta-globin mRNA stability

The normal expression of human beta globin is highly dependent upon the stability of its encoding mRNA. Despite its importance, relatively little is known about the structural determinants of beta-globin mRNA stability or how they contribute to regulating beta-globin gene expression. This project is designed to establish a comprehensive understanding of the structures, factors and mechanisms that affect the stability of human beta-globin mRNA.This information promises to be helpful in designing therapies for sickle cell disease.
Principal investigators: Eric Russell, MD and Megerditch Kiledjian, PhD, The Children's Hospital of Philadelphia

Sickle cell summer for science program

The National Heart Lung and Blood Institute of the NIH sponsors three high school students at each Comprehensive Sickle Cell Center each year. These students work in laboratories in which research in sickle cell disease is performed. Students are selected according to academic achievement and a declared interest in science.
Principal investigator: Janet Fithian, BA


Inter-center collaborative studies funded through the NIH Comprehensive Sickle Cell Centers (CSSC)

Arginine, a chemical made by the body, helps produce nitric acid, which keeps blood vessels open. In this research, arginine is given in pill form to determine if it can reduce or prevent symptoms in people with sickle cell disease.
Principal investigator: Lori Styles, MD, Northern California CSCC, Children's Hospital and Research Center at Oakland

Collaborative data project (C-data)

Medical information about a large number of patients with sickle cell disease is being collected at various Centers. The information will be used to better understand how the disease affects quality of life and to plan future research studies to address the needs of patients. Principal investigator: Ronald Helms, PhD, Statistics and Data Management Center, Rho, Inc.

Epidemiology of priapism

Priapism is a prolonged, unwanted painful erection of the penis. The goal of this multi-center study is to find out in which patients, how often, and under what circumstances priapism occurs.
Principal investigator: Zora Rogers, MD, Southwestern CSCC, University of Texas Southwestern Medical Center at Dallas


Non-governmental-funded research

Bone health in children with sickle cell disease

Because sickle cell disease affects growth, it is important that children have the proper nutrients for building healthy bones. This project measures bone growth, bone density, muscle strength and several nutrients in the blood that contribute to bone growth.
Principal investigator: Alisha Rovner, BS, The Children's Hospital of Philadelphia
Funder: American Society of Parenteral and Enteral Nutrition with the General Clinical Research Center at The Children's Hospital of Philadelphia

A one-year open label, non-comparative extension to a randomized, multicenter, phase II study to evaluate the safety, tolerability, pharmacokinetics and the effects on liver iron concentration of repeated doses of 5-30 mg/kg/day of ICL670 (deferasirox) relative to deferoxamine in sickle cell disease patients with transfusional hemosiderosis

A randomized, multicenter, phase II study to evaluate the safety and efficacy of oral ICL670 (deferasirox) 20 mg/kg/day relative to subcutaneous deferoxamine in sickle cell disease patients with iron overload from repeated blood transfusions

Sickle cell disease patients who require repeated transfusions are at risk for organ damage and life-threatening complications from excess iron from the transfused red blood cells. Previously, only one medication, deferoxamine, was available for chelation. This medication is given by nightly infusions using a pump. A newer medicine, Exjade (deferasirox), has been developed for oral, once-daily use. The Sickle Cell Center is participating in these two studies to further confirm its effectiveness and safety in patients with sickle cell disease.
Principal investigator: Janet Kwiatkowski, MD, The Children's Hospital of Philadelphia
Funder: Novartis


Updated: September 2006

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