A team at the Case Western Reserve University has been awarded up to $3.7 million from the National Heart, Lung, and Blood Institute (NHLBI) to conduct early studies of emerging gene therapies for sickle cell disease (SCD).
Led by Umut Gurkan, PhD, the team will examine blood samples collected from SCD patients before and after they receive gene therapies, and test them for improvements in red blood cells.
These potential gene therapies work by modifying a patient’s own hematopoietic stem cells, which generate red and other blood cells. Then, the modified stem cells are given back to the patient via a bone marrow transplant, which overcomes the difficulty in finding matched donors in those with SCD.
Patients will receive the therapies over the next two years as part of clinical trials conducted at leading U.S research universities and hospitals, including Stanford University, the University of California San Francisco, Emory University, the University of North Carolina, and Albert Einstein College of Medicine.
The overall goal is to make genetic therapies for SCD available within five to 10 years.
“The big-picture potential here is to test whether this is dream or reality when it comes to gene therapy curing sickle cell,” Gurkan said in a press release. “We don’t know the answers yet, but we have to ask whether these gene therapies are safe and effective in alleviating the symptoms and curing the disease and if we have the right tools.”
Due to a mutation in the HBB gene, red blood cells of SCD patients acquire an abnormal and more rigid shape, while also becoming stickier than normal. This contributes to the formation of clogs that prevent or slow blood flow in small vessels, depriving tissues of oxygen.
Using a kind of “lab-on-a-chip” approach, researchers essentially mirror the tiny capillaries of the human body, which allows them to investigate how red blood cells move in these engineered capillaries.
The Case team will investigate if the gene therapies improve blood flow and test for improvements in red blood cell stickiness, as well as density, and shape.
“If a curative therapy is successful and effective, we should see a significant improvement in these vital properties of blood,” Gurkan said. “Essentially we would like to objectively and quantitatively assess how well the blood cells flow in tiny capillaries after a gene-based therapy.”
According to Gurkan, Case University has been playing an important role in the development of these new blood tests, which could help identify patients who respond to a given therapy early on.
“As the genetic cure for sickle cell becomes a clinical reality, longitudinal, simple and accurate assessment and control through the tests that Dr. Gurkan has developed becomes ideal and opens up this new treatment to patients across the world,” said Stanton Gerson, MD, director of the Case Comprehensive Cancer Center.
“Our team is committed to making these new blood tests available for translation on global scale in both high- and low-resource settings,” Gurkan said.
The work at Case will be conducted in collaboration with researchers at multiple other institutions, which, in addition to the centers conducting the clinical studies, include University Hospitals Rainbow Babies and Children’s Hospital, Children’s Healthcare of Atlanta, and Children’s Hospital of Montefiore.
Success in SCD could pave the way for similar benefits in other genetic diseases, which is the goal of the National Institutes of Health (NIH).
“The reason the NIH is so focused on curing SCD is that it is the ‘poster child’ for gene-editing efforts,” said Gurkan. “If we can prove that we can cure an inherited mutation like SCD effectively and safely, then you convince the funders and the public that it is worth the expense and the effort to go after more complex inherited diseases which are less understood.”
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