In early July the Food and Drug Administration approved the first new drug for sickle cell patients in nearly 20 years. It was a watershed moment for people who suffer from the rare blood disorder that can cause debilitating pain. And for one physician it was the end of a 25-year journey.
The drug, Endari, is made by Emmaus and has been approved for patients five years and older. It injects glutamine into red blood cells, reducing the likelihood they will clog and cause painful blockages in small blood vessels and, in some cases, organs.
Sickle cell disease primarily affects African Americans, Latinos and other minority groups. It's a lifelong disorder in which red blood cells, normally round, are crescent- (or sickle-) shaped, due to abnormal hemoglobin. That shape makes the cells less flexible, or more 'sticky,' which can impede blood flow. By injecting glutamine into the cells, Endari makes the cells less 'sticky.' It's not a permanent solution, but it does help reduce the pain.
"We knew this was not going to cure the disease, but improve the conditions [for patients]," says Yutaka Niihara, MD, CEO of Emmaus. "We're able to decrease the symptoms and make the circulation better."
Sickle cell affects about 100,000 people in the United States, a number that's dwarfed by people suffering from cancer, heart disease and other high-profile ailments. That number could actually be higher, but many patients are viewed as "drug seekers" by some members of the medical community, due to the severe pain they face. As a result, they may not be diagnosed with sickle cell.
Still, that official patient count made sickle cell an "orphan disease" in the eyes of most pharmaceutical companies, which ignored it for decades because of the perceived fear that development costs on any drugs would not be recouped.