Augusta Elizabeth Koroma, CEO of Sickle Cell Intervention UK, spoke at the recent 2023 World Orphan Drug Congress at National Harbor, Maryland. (Photo by Larry Luxner)

WASHINGTON—Since she suffered a sickling episode in her spleen at the age of 2, doctors knew Teonna Woolford of Baltimore, Maryland, had sickle cell disease (SCD).

“I was in denial about it until I hit late puberty. That’s when things started spiraling out of control,” said Woolford, who is now CEO of the Sickle Cell Reproductive Health Education Directive. “By the time I was 15, I had both my hips replaced. I didn’t know anyone else with sickle cell, so it was really hard to shoulder the burden.”

DeAndra Cullen, a Baltimore civil rights attorney, had been aware since childhood that she was a carrier of the disease. But her husband didn’t know that he was, too. Their 16-year-old daughter was born with the most severe form of SCD—a 25% likelihood when both parents have what’s known as sickle cell trait—causing the girl acute chest pain that endures to this day.

DeAndra Cullen, a civil rights attorney who heads the Sickle Cell Coalition of Maryland, has a daughter with the disease. (Photo by Larry Luxner)

“I am an advocate, and a warrior-caretaker. I support other parents who are dealing with this disease, and I’m very vocal,” said Cullen, who heads the Sickle Cell Coalition of Maryland. “We go to hospitals, and we do blood drives. This disease is finally getting the attention it deserved years ago, and now everyone knows that it doesn’t just affect poor black and brown people.”

That’s the point of World Sickle Cell Day, an international awareness initiative held annually on June 19. Both Woolford and Cullen spoke at a May 24, 2023, panel on the inherited blood disorder during the 2023 World Orphan Drug Congress, which attracted some 1300 delegates to Maryland’s National Harbor.

Also on the panel was Kim Smith-Whitley, MD, site head, advisor of scientific and clinical affairs at Pfizer. Before joining the world’s largest pharmaceutical company, Dr. Smith-Whitley—a hematologist with 30 years of experience in treating SCD—was executive vice president and head of research and development at Global Blood Therapeutics, which Pfizer acquired last year.

“June 19th was initially selected as World Sickle Cell Day by a committee of advocates, scientists, and researchers, who felt that it would be significant to have this recognition globally. It was just happenstance that this was also the day that Texas saluted the emancipation of slaves, noted as Juneteenth,” Dr. Smith-Whitley said, estimating that 4 million people worldwide—including 100,000 Americans—live with the disease.

The World’s Epicenter of Sickle Cell Disease

One in 13 African Americans carries the sickle cell trait, according to the US Food and Drug Administration (FDA), and babies born in the US are generally screened at birth for SCD. Worldwide, some 300,000 babies are born with SCD each year, said Augusta Elizabeth Koroma, CEO of Sickle Cell Intervention UK.

“We need to step up in terms of technology and innovation,” said Koroma, who is also the founder of the Africa Sickle Cell Center for Education and Research, registered in Sierra Leone and Gambia. “It’s about time this disease is recognized and taken into consideration. It’s spreading rapidly, and pharma companies are not paying attention to us.”

In Africa, home to 66% of the world’s sickle cell patients and all 10 of the world’s poorest countries as ranked by the World Bank, more than 1000 children are born with SCD every day, according to the World Health Organization. More than half of them will die before age 5, usually from infection or severe anemia.

Panelists discuss advances in sickle cell disease research on May 24, 2023, at the World Orphan Drug Congress conference in National Harbor, Maryland. (Photo by Larry Luxner)

“I was so devastated when I went to Sierra Leone 2 years ago. Lots of children are suffering from the illness, and there’s only 1 genetic test, which you have to pay for,” Koroma said. “Most people don’t even know if they have the trait or not.”

Added Cullen: “When these drug companies driven by profit serve people who don’t have the means to pay for it, that becomes a health crisis in itself. We need access to drugs and marketing that will do away with the stigma associated with this disease. And we need it to be affordable.”

Koroma, who lost her husband to SCD 12 years ago, said that although the disease is especially problematic in sub-Saharan Africa, the genetic illness also strikes people of Arab, Mediterranean, and Asian origin. Even in Europe, not all countries offer newborn screening for SCD, though Belgium and Ireland are launching programs soon, she said.

Dr. Smith-Whitley said people with SCD generally live 30 years less than their peers without the disease.

Pfizer: ‘Great Advances’ Seen in SCD Therapies

“We have had great advances in the clinical care of children and adults with SCD, and therapies that reduce the frequency of pain episodes,” said Dr. Smith-Whitley, formerly chief medical officer of the Sickle Cell Disease Association of America. “We have curative therapies, such as bone marrow transplant, for individuals with a brother or a sister that’s a full match.”

Hematologist Kim Smith-Whitley, MD (Photo by Larry Luxner)

In fact, the first disease-modifying therapy for SCD only appeared in 1995—a full 85 years after the first published description of an individual with the condition. Since then, progress has been relatively rapid, with 3 new therapies for SCD approved in the last 6 years alone.

“It’s very reassuring that industry continues to support the advancement of therapies for individuals with sickle cell disease,” said Dr. Smith-Whitley, noting that at least 30 clinical trials for SCD are now in progress.

Recent FDA-approved therapies to treat sickle cell disease include hydroxyurea (Hydrea and Droxia); L-glutamine oral powder (Endari™); Pfizer’s voxelotor (Oxbryta®), and the Novartis drug crizanlizumab-tmca (Adakveo®).

These medications generally cost around $100,000 per year, compared to the $3 million price tag industry observers expect a one-time gene therapy for SCD to cost, if and when such a drug wins FDA approval.

In the meantime, Dr. Smith-Whitley said, several Pfizer therapies are currently in phase 2 trials: GBT601, often referred to as a next-generation Oxbryta, and inclacumab, an intravenous anti-P selectin inhibitor that she suggested “should limit the frequency of painful episodes over time, we hope.”