Sickle Cell Disease Research

Our Division of Blood Diseases and Resources and the Division of Intramural Research, specifically the Cellular and Molecular Therapeutics Branch and the Sickle Cell Branch, oversee much of the research on sickle cell disease that we fund.

Current research on sickle cell disease treatment

Many current studies are looking at how to use genetic therapies and blood and bone marrow transplants to discover new treatment options for patients.

• Advances in genetics over the last decade may make effective gene-based treatments a reality for people with sickle cell disease. Through funding by the NHLBI and other collaborations, researchers are developing easy-to-administer gene-based interventions.

• Many patients with sickle cell disease receive frequent blood transfusions to treat and prevent certain complications. NHLBI-funded researchers are investigating the beneficial and harmful effects of blood transfusions in patients with this condition. In addition, researchers are developing more effective medicine support for blood transfusions when patients undergo bone marrow transplantation. This research is critical because a blood and bone marrow transplant is currently the only cure for many people living with sickle cell disease.
• The NHLBI also funds efforts to improve bone marrow transplantation (BMT) through the BMT Clinical Trials Network. For example, one current trial is investigating treatment of severe sickle cell disease with a BMT procedure that involves either a related or unrelated immune-matched donor.

Find more NHLBI-funded studies on sickle cell disease treatment at NIH RePORTER. 

NHLBI News

Read more in this news release about NHLBI-funded research on blood transfusions. The study found that using fresh red blood cells — cells that have spent seven days or less in storage — are no more beneficial than older red blood cells in reducing the risk of organ failure or death in critically ill children.

Current research on pain management

• Vaso-occlusive crises are painful episodes that affect many people with sickle cell disease. The crises are the leading cause of emergency department visits and hospitalizations. As part of the Sickle Cell Disease Treatment with Arginine Therapy (STArT) Trial, NHLBI-funded researchers found that patients with sickle cell disease and pain also had low levels of an amino acid called arginine in their blood. The study is investigating whether arginine supplements can reduce pain in patients. Other NHLBI-funded research seeks to determine the best way to calculate dosages of pain medicine for patients with vaso-occlusive episodes (severe pain that occurs when the sickle-shaped cells block blood flow to a part of the body).
• Pain and sickle cell disease often go hand-in-hand, but the exact cause of this pain is not well understood. NHLBI-funded researchers are using animal models of sickle cell disease to better understand the causes and treatments of chronic pain experienced by patients with sickle cell disease.
• The NIH Helping to End Addiction Long-term (HEAL) initiative funds NHLBI clinical research into pain management, including pain management for sickle cell disease. Researchers are evaluating the safety and effectiveness of pain management therapies through new and existing projects. Research findings will help establish evidence-based guidelines for treating sickle cell disease pain with non-opioid therapies to reduce prescription opioid use. For example, the NHLBI administers HEAL-funded research into cannabinoid-based therapy for sickle cell disease pain.

   

Find more NHLBI-funded studies on pain management in sickle cell disease at NIH RePORTER. 

Current research on improving care for all people with sickle cell disease

The NHLBI is committed to research that will help reduce the barriers patients face when accessing sickle cell disease treatment. Find more NHLBI-funded studies on health disparities and sickle cell disease at NIH RePORTER. 

Researchers from the NHLBI Division of Intramural Research, which includes investigators in our Sickle Cell Branch, are focused on developing new treatments for sickle cell disease.

• Intramural NHLBI researchers have developed a new and improved viral vector — a virus-based vehicle that delivers therapeutic genes — for use in genetic therapy for sickle cell disease.
• The NHLBI established the Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC) in 2008. Since then, it has grown to include datasets from more than 140 epidemiological studies and clinical trials and about 4 million specimen collections, including from patients with sickle cell disease. Researchers within the NHLBI recently used data from the BioLINCC to reaffirm that hydroxyurea is safe and effective for very young children with sickle cell disease.

Read more about these projects and ongoing clinical trials.

The NHLBI leads and supports many programs and initiatives around the nation and the world as we search for a cure and work to improve the lives of people with sickle cell disease.

• The NHLBI’s annual Sickle Cell Disease Research Meeting brings together investigators, practitioners, and healthcare providers to discuss the progress of ongoing clinical trials and hear presentations about new developments in scientific and clinical aspects of sickle cell disease.
• The NHLBI supports three major programs in sub-Saharan Africa across 9 countries and 11 cities: The Sickle Pan-African Research Consortium, the Sickle Cell Disease Genomics Network of Africa, and the Realizing Effectiveness Across Continents with Hydroxyurea (REACH) Program. All are working to build research capacity and develop an infrastructure to enhance disease surveillance and delivery of care.
• The NHLBI participates in the Stimulating Hematology Investigation: New Endeavors (SHINE) Program, which focuses on basic and early translational hematology research and encourages applications from investigators at all career stages.
• The Recipient Epidemiology and Donor Evaluation Study (REDS) Program evaluates and improves the safety and effectiveness of transfusion therapies. The program also works to proactively address potential emerging threats to the United States’ blood supply and serves as a resource for ongoing work in transfusion research.
• The NHLBI has taken a lead role in managing the Regenerative Medicine Innovation Project (RMIP) under the 21st Century Cures Act. Beginning in 2017, the Act authorized the investment of $30 million in clinical research with adult stem cells to treat diseases including sickle cell disease.