Research into New Therapies for Sickle Cell Disease Gets Funding Boost

The Medical University of South Carolina (MUSC) was recently awarded a Doris Duke Charitable Foundation grant to develop a new gene-modifying therapy for the treatment of sickle cell disease.

The project, “Epigenetic Modulators for the Treatment of Sickle Cell Disease,” was awarded more than $750,000 as part of the Sickle Cell Disease/Advancing Cures funding competition.

Sickle cell disease develops due to a mutation in hemoglobin, a component of red blood cells. That mutation leads to the formation of sickle-shaped blood cells, which stick together and cause dangerous blood-flow problems.

The project, led by Patrick Woster, SmartState endowed chair in medicinal chemistry at the university, will focus on the enzyme LSD 1 (lysine-specific demethylase 1), which is involved in creating the mutated hemoglobin. LSD 1 causes genes to be turned off, which in this case reduces expression of the protein. Therefore, the project will focus on developing LSD 1 inhibitors that would make the LSD 1 protein less effective and could lead to turning back on the gene for the important protein.

“This research could lead to a disease-modifying treatment,” Woster said in a press release. “We have a good chance to get something on the market soon.”

Because sickle cell disease is an orphan disease, which refers to rare diseases that have high unmet need, Woster and his research team can take advantage of policies set by the U.S. Food and Drug Administration (FDA), which allows for new drugs for orphan diseases to be fast-tracked to approval.

Woster has been collaborating with Julie Kanter, a hematologist at the university, for three years to find a gene-modifying method to treat this disease. “We have an opportunity at MUSC for a true, translational project that can go from bench to bedside with both basic science and clinical components,” Kanter said.

“We have an opportunity at MUSC for a true, translational project that can go from bench to bedside with both basic science and clinical components,” Kanter said.

Sickle cell disease affects approximately 100,000 Americans, particularly African-Americans. One in 13 African-Americans have the trait for sickle cell disease, meaning they don’t show symptoms of the disease but they could pass it on to their children. One in 356 African-American children are born with the disease.

LSD 1 inhibitors are an exciting new therapeutic opportunity for the treatment of sickle cell disease, Woster said.

“Our group is working on it, and I know of two other groups that are looking at this strategy. Whether we come up with something or those other groups do, I think this is one of the most promising avenues to pursue and holds the greatest hope for discovering a new drug for sickle cell disease,” he added.