Working to Develop Cures and Deliver Better Care for Sickle Cell Disease
Now in its second year, the Cure Sickle Cell Initiative is making progress toward gene-based cures for sickle cell disease (SCD). For example, researchers have devised an approach that uses CRISPR gene-editing technology to repair disease-causing mutations in the hemoglobin gene. The team is now preparing for an early-phase clinical trial in adults with severe SCD. In related efforts, researchers in the NHLBI’s Division of Intramural Research have developed a vector system to more efficiently deliver a normal hemoglobin gene to blood-forming stem cells.
Since data show that many patients with SCD do not receive guideline-based treatment, the SCD Implementation Consortium is testing new approaches to enhance care for SCD and improve health outcomes in eight geographically diverse areas. The first three protocols have begun, including one that focuses on improving emergency department care of patients in sickle cell crisis.
Sub-Saharan Africa is home to more than 75 percent of SCD births worldwide, and more than half of children with SCD in this region die before age 5. The NHLBI supports major programs in the region that are building research capacity and developing an infrastructure to enhance disease surveillance and delivery of care, including the Sickle Pan-African Research Consortium. The NHLBI is also part of a newly announced NIH collaboration with the Bill & Melinda Gates Foundation that aims to develop affordable, gene-based cures for SCD that will be made available in low-resource communities globally. The collaboration is also addressing HIV/AIDS.
Thanks in part to NIH support, two new medications for SCD were approved by the U.S. Food and Drug Administration (FDA) late last year. An NHLBI-funded clinical trial found that Adakveo (crizanlizumab-tmca) reduced the frequency of sickle cell crises in patients age 16 and older. NIH funding for basic research also contributed to the development of Oxbryta (voxelotor). It reduced red blood cell sickling in an industry-funded trial.
Reducing Risk of Graft-Versus-Host Disease After Blood or Bone Marrow Transplants
Graft-versus-host disease (GVHD) can occur after a patient receives a blood or bone marrow transplant to treat conditions such as sickle cell disease or blood cancers. In GVHD, the tissue donor’s cells attack the patient’s organs or tissues. In a study in mice, NHLBI-supported researchers developed a promising strategy for potentially reducing the frequency of GVHD. They devised an injectable sponge-like gel that serves as a type of scaffold, allowing for enhanced regeneration of key immune cells known as T cells after a blood or bone marrow transplant, thus reviving the recipient’s immune system faster and reducing the likelihood of developing GVHD.
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