January 3, 2022 — According to his mother, Ife, 10-year-old Josiah Oyeleye is a very different child than 3 years ago. While his peers had seemingly boundless energy, Josiah grew tired quickly and had to take frequent naps.
Intense fatigue is just one of the many debilitating symptoms of sickle cell disease, an inherited blood disorder that Josiah was diagnosed with when she was 3 weeks old.
But Josiah turned a corner when he enrolled in a clinical trial for Oxbryta, a treatment for sickle cell disease that has just been approved for children ages 4-11. The drug, approved by the FDA in December, treats the cause of the disease rather than the symptoms, filling a void for the chronically underserved patient population, doctors say.
“If he’s only doing basic things, like playing, he needs to take breaks,” says Ife, who lives in the Atlanta area. “Now that’s gone, he doesn’t take naps anymore and it’s very clear that he’s just like his friends, his peers. We are really grateful to you.”
Josiah’s sister, Micaiah, and father, Fola, are also living with the disease.
Sickle cell disease is characterized by defective hemoglobin, or the protein in red blood cells that carries oxygen to the tissues of the body. This changes the shape and texture of red blood cells.
The cells, which are normally smooth and disc-shaped, become crescent-shaped and resemble a sickle. They are also stiff and sticky, causing them to clump together.
This can cause a wide variety of complications, including organ damage, stroke and chronic pain.
It affects disproportionately colored people. The disease occurs in about 1 in 365 Black or African American births and in about 1 in 16,300 Hispanic births.
The extensive use of Oxbryta, made by the San Francisco-based pharmaceutical company Global Blood Therapeutics, represents a “Renaissance era for sickle cell disease,” says Clark Brown, MD, a pediatric hematologist at Children’s Healthcare of Atlanta and principal investigator for the Oxbryta clinical trials. .
“There is a huge unmet need in this patient population,” he says. “Now there is greater awareness about the need and better advocacy for the patient population.”
Racial prejudice has hindered sickle cell progression for years, according to researchers, leading to scarce pain treatment and lack of knowledge among healthcare professionals. Sickle cell patients in one hospital waited 60% longer to receive pain medication than other patients who reported less severe pain and were assigned to a less severe category. According to a 2015 survey, only 20% of GPs said they felt comfortable being treated for sickle cell disease.
There are few treatments for the disease, the most common being the drug hydroxyurea. But it was first used as a cancer treatment, and many doctors are hesitant to prescribe it because of safety concerns, Brown says. It can decrease white blood cell counts and require frequent blood tests, while Oxbryta’s safety profile is much milder, as the drug sometimes causes skin rashes or stomach upset.
Brown says that children with the disease are at risk for life-threatening complications as early as six months after birth.
“Early treatment is essential,” he says. “This is expected to slow the progression of the disease.”
Oxbryta keeps hemoglobin in a shape that prevents sickle cells from building up, preventing complications like organ damage and pain, says Kim Smith-Whitley, MD, chief of research and development for Global Blood Therapeutics and a pediatric hematologist at Children’s Hospital of Philadelphia.
“The stacking can lead to changes in lungs, hearts, and kidneys, which can affect them long-term,” she says. “Their brains aren’t getting enough oxygen in a quarter of them by age 5.”
While Oxbryta for children 12 years and older comes in a tablet that can be swallowed, the newly approved drug is a tablet that dissolves in liquid.
Researchers are investigating the use of the medication for children even younger than 4, to 6 months of age, Smith-Whitley says.
“People with sickle cell disease die 30 years younger than their peers,” she says. “Now we have another drug that we can use to address the complications of sickle cell disease in younger children and the first drug that directly addresses the underlying cause.”