Building on Our Legacy of Excellence in Sickle Cell Disease Research
Learn more about NHLBI’s legacy of research
2018 and Beyond
The NHLBI launched the Cure Sickle Cell Initiative. The Initiative is an NHLBI-led collaborative research effort that will accelerate the development of gene therapies to cure sickle cell disease. The Initiative will identify and support the most promising gene therapies so they can be safely used in clinical research within five to 10 years. The Initiative aims to transform the lives of people who have sickle cell disease by creating a collaborative, patient-focused research environment. With new advancements in gene therapy approaches, the time is right to push toward cures that are more accessible to the approximately 100,000 Americans, and more than 20 million people worldwide, who have sickle cell disease.
- New approaches to reducing strokes. The NHLBI Trans-Cranial Doppler (TCD) with Transfusions Changing to Hydroxyurea (TWiTCH) study found that hydroxyurea is as effective as blood transfusions at reducing TCD blood velocities in children who have sickle cell disease. High TCD blood velocities are a risk factor for stroke in children who have sickle cell disease.
- Improving treatments for adults. The NHLBI supports a multi-center trial called the Bone Marrow Transplantation vs Standard of Care in Patients with Severe Sickle Cell Disease (STRIDE) study. This study aims to find better ways to perform blood and bone marrow transplants in adults who have sickle cell disease, possibly paving the way to better treatments for adult patients.
- Building regional capacity for sickle cell research in Africa. More than 75 percent of newborns who have sickle cell disease are born in sub-Saharan Africa. By funding the Sickle Cell Disease in Sub-Saharan Africa Collaborative Consortium and associated Data Coordinating Center, we are building the regional capabilities to research sickle cell disease and monitor patients in Africa. These efforts may ultimately improve treatment and care for Americans who have sickle cell disease.
- Funding research to improve care for U.S. adolescents and adults who have sickle cell disease. The NHLBI launched the Sickle Cell Disease Implementation Consortium (SCDIC) and SCDIC Data Coordinating Center to understand barriers to care, test interventions to overcome those barriers, and develop a new sickle cell disease registry.
- Evidence-Based Management of Sickle Cell Disease. The NHLBI supported a review and analysis of the latest sickle cell disease research and the creation of the Evidence-Based Management of Sickle Cell Disease report. This report offers guidance to health care professionals on how best to care for their patients who have sickle cell disease.
- Preventing silent strokes in children. Researchers from the NHLBI-funded Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial (SIT) showed that regular transfusion therapy can also prevent silent strokes in children with sickle cell disease. These silent strokes are the most common cause of cognitive or learning problems in children who have sickle cell disease.
- Exploring gene therapies using gene editing for sickle cell disease. NHLBI-funded researchers for the first time used gene editing to correct hemoglobin S gene mutations in blood-forming stem cells from adult patients who have sickle cell disease. The researchers showed that these modified stem cells could form healthy red blood cells in the laboratory. More research is needed to explore how to use gene therapies to treat patients safely and effectively.
- Hydroxyurea found safe and effective for young children. The Hydroxyurea to Prevent Organ Damage in Children with Sickle Cell Anemia (BABY HUG) study showed that hydroxyurea, a successful treatment for sickle cell disease in adults, is also safe and effective for children who are 8 to 19 months old. The medicine decreased episodes and frequency of pain crises and acute chest syndrome, as well as the need for hospitalization and transfusion.
- Determining the prevalence of sickle cell disease in the United States. The NHLBI partnered with the Centers for Disease Control and Prevention (CDC) to fund the Registry and Surveillance System for Hemoglobinopathies (RuSH) project. This project studied how many people have sickle cell disease and thalassemia in parts of the United States. RuSH informed other national disease and health status monitoring strategies, as well as the targeted delivery of health education materials. Visit CDC RuSH for more information.
- Understanding pain in sickle cell disease. NHLBI’s Pain in Sickle Cell Epidemiology Study (PiSCES) found that, despite advances to prevent acute pain crises, chronic pain is common in adults who have sickle cell disease. This finding has informed clinical guidelines and how health professionals diagnose and manage pain in patients who have sickle cell disease.
- Blood and bone marrow transplants in adults. NHLBI researchers found that a modified blood and bone marrow transplant procedure reverses sickle cell disease in nine out of 10 adults who are severely affected by the disease. The regimen does not require a complete bone marrow replacement, which is particularly risky in adults because the standard method for preparing the body often makes the patient sick. While these risks are still present in children, they are much more reduced; blood and bone marrow transplants are successful in about 85 percent of children who have well-matched donors.
- Following up on earlier studies of stroke in children. The STOP II trial, an extension of NHLBI’s earlier STOP I study, found that children who were receiving blood transfusions to prevent stroke and who later stopped the transfusions had a higher risk of stroke.
- Exploring new ways to prevent stroke. The Stroke With Transfusions Changing to Hydroxyurea (SWITCH) found that hydroxyurea was no better than standard treatment with blood transfusions at preventing repeat strokes or reducing iron overload from previous blood transfusions in patients who had sickle cell disease.
- New and improved ways to perform blood and bone marrow transplants. For children who have sickle cell disease, NHLBI-supported researchers found that blood and bone marrow transplants can be successful even when a patient’s bone marrow is not destroyed first to make way for the transplanted cells. This led to new research that has improved ways to perform blood and bone marrow transplants.
- The NHLBI launched the Blood and Marrow Transplant Clinical Trials Network. The NHLBI established the Blood and Marrow Transplant Clinical Trials Network (BMT CTN) to conduct large multi-institutional clinical trials to understand the best possible treatment approaches in blood and bone marrow transplants. In the United States, nearly 21,000 patients receive blood or bone marrow transplants annually, mainly for rare blood disorders.
- Hydroxyurea approved for treating adults who have sickle cell disease. Based on results from NHLBI’s Multicenter Study of Hydroxyurea (MSH) in Sickle Cell Anemia, the U.S. Food and Drug Administration (FDA) approved hydroxyurea as the first medicine to prevent pain crises in patients who have sickle cell disease. Hydroxyurea increases life expectancy and reduces emergency department visits and hospitalizations.
- Strategies to prevent stroke in children. The Stroke Prevention Trial in Sickle Cell Anemia (STOP) showed that yearly transcranial Doppler screening and chronic blood transfusions reduced the risk of stroke in high-risk patients. This was one of several major NHLBI-supported studies that helped increase the lifespan of patients who have sickle cell disease.
- Treatments to reduce pain crises. The NHLBI-funded Multicenter Study of Hydroxyurea (MSH) in Sickle Cell Anemia showed that hydroxyurea use decreased the frequency of pain crises, the occurrence of acute chest syndrome, and the need for hospitalizations and transfusions. This was one of several major NHLBI-supported studies that helped increase the lifespan of patients who have sickle cell disease.
- Recommending newborn screening for sickle cell disease. The NHLBI helped organize the NIH Consensus Development Conference on Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies. The panel of experts recommended screening newborns for sickle cell disease, based on scientific evidence that it reduced complications and improved outcomes for patients. The panel also recommended giving penicillin to infants who have sickle cell disease, starting at 3 months of age.
- Preventing deadly infections. NHLBI’s Prophylaxis with Oral Penicillin in Children with Sickle Cell trial found that giving penicillin, an antibiotic, to children who have sickle cell disease can prevent pneumococcal infections. This was one of several major NHLBI-supported studies that helped increase the lifespan of patients who have sickle cell disease.
- Better understanding of sickle cell disease as patients age. From 1977 to 1995, the Cooperative Study of Sickle Cell Disease helped determine the natural history of sickle cell disease, including the effect of the disease on growth and development and what contributes to pain crises. The study also helped researchers understand the complications patients who have sickle cell disease face as they age.
- National Sickle Cell Anemia Control Act. This law provided for the establishment of voluntary sickle cell disease screening and counseling programs. It also provided support for information and education programs for health professionals and the public and research training in the diagnosis and treatment of sickle cell disease.
- Understanding how sickle cell disease is inherited. The NHLBI funded a study led by Dr. James Neel on how sickle cell disease is passed from parents to their children. A year later, Dr. Neel showed that sickle cell genes from both parents are needed to produce sickle cell disease. Receiving the gene from one parent produces sickle cell trait.