About 100,000 people in the United States are affected by sickle cell disease.
But there haven’t been any new treatments for the inherited blood disorder in decades — until now.
The U.S. Food and Drug Administration (FDA) recently approved Endari (L-glutamine oral powder), which was created for people with sickle cell disease, ages 5 years and older.
Researchers hope the drug can reduce severe complications associated with the ailment.
Sickle cell disease affects mostly minority groups.
One in every 13 African-American babies is born with sickle cell trait.
That’s the gene associated with the disease, the U.S. Centers for Disease Control and Prevention (CDC) reported.
Those with the condition have abnormal hemoglobin, or sickle-shaped cells.
Those cells can cause blockages of blood to organs and tissues, debilitating pain, and life-threatening complications.
People with sickle cell disease have an average life expectancy of 40 to 60 years.
A sickle cell game changer?
Until the approval of Endari, there was only one drug approved for people with the disease, said Dr. Richard Pazdur, acting director of the Office of Hematology and Oncology Products in the FDA’s Center for Drug Evaluation and Research, in a statement.
Tiffany Rattler, a board member of the nonprofit SOS Parent and Guardian Support Group based in Texas, was pleased to hear that the disease finally has a new therapeutic option.
“This is an extremely significant development, as individuals living with this particular chronic condition have had only one approved medication option before now,” Rattler told Healthline.
Like other chronic conditions, a one-size treatment does not fit all with sickle cell.
“The more disease-modifying treatment options available, the more likely we are to see improvements in health outcomes and quality of life for individuals living with sickle cell,” Rattler said.
Whether or not the drug is an ideal therapy choice depends on the patient, but the drug at least gives people another option, Rattler added.
“If the medical community continues investing resources in evidence-based research regarding these therapies, and continues to support education and awareness by sharing findings with the public, we can continue to improve the lives of individuals with sickle cell disease,” she said.
Dr. James G. Taylor VI, director of the Center for Sickle Cell Disease at the Howard University College of Medicine is optimistic about the drug but does have reservations.
"My biggest disappointment with the studies that led to this FDA approval is that they are not yet published in the medical literature. This information is critical for physicians like myself who are likely to prescribe this to patients," he told Healthline.
The drug seems to have a rational basis for preventing complications, but there are limited results from the phase III study and they are not published. That said, the drug could offer new hope for patients with the disease who face a shortage of qualified doctors and staggering treatment costs, Taylor said.
Improved outcomes on Endari
Endari was studied in a randomized trial of people with sickle cell disease, ranging in age from 5 to 58 years.
All of the study participants had two or more painful crises within a 12-month span prior to enrolling in the trial.
People were assigned to take either Endari or a placebo. Scientists monitored them over the course of 48 weeks.
The researchers found that the people who were given Endari had fewer hospital visits for pain, fewer hospitalizations for disease-related pain, and shorter hospital stays.
They also noted that 8 percent of the participants taking Endari experienced acute chest syndrome — a serious complication of the disease — compared with 23 percent in the placebo group.
As part of its approval, Endari received classification as an orphan drug, a designation that means it’s purpose is to treat rare diseases, which qualifies it for some development incentives.
Emmaus Medical, Inc. produces the medication.
The FDA noted that constipation, cough, nausea, headache, abdominal pain, pain in the extremities, back pain, and chest pain are common side effects of the drug.