Sickle cell disease marks a few milestones, but more needs to be done

As scientists and leading biotech companies are scrambling to achieve life-changing breakthroughs and treatments, sickle cell disease (SCD) is on the cusp of a new era. This is welcome news for patients. SCD has debilitating effects, largely affecting historically marginalized ethnic groups in the U.S.—particularly Black populations and those from Western Hemisphere regions including South America, the Caribbean, and Central America, according to the Centers for Disease Control and Prevention (CDC).

As we celebrate Black History Month, we also celebrate recent developments in SCD and what’s needed to ensure positive outcomes for the communities most impacted by this disease.

Why do we talk about sickle cell disease during Black History Month?

“Sickle cell disease epitomizes healthcare inequity. It’s a genetic disease. It resides primarily in African Americans, because the disease was primarily in areas where malaria was endemic. And of course, there’s no malaria in the U.S. The way the gene got into the U.S. was through slave importation from areas where malaria was endemic. We’ve had gene pool mixing, so there are white people with sickle cell disease—but it’s still largely in the Black community,” Dr. Ted W. Love, BIO Board Chair and former CEO of Global Blood Therapeutics (GBT), previously told Good Day BIO.

The CDC estimates that sickle cell disease affects at least 100,000 Americans, occurring in 1 in 365 African American births. Additionally, 1 in 13 African American babies carries the sickle cell trait (SCT).

SCD-related deaths in the period 1999 through 2002 had dropped significantly, relative to the period 1983 through 1986: 68% at age 0 through 3 years, 39% at age 4 through 9 years, and 24% at age 10 through 14 years.

Before the adoption of the Orphan Drug Act in 1983, there was little to no research done for sickle cell disease. “I do think there was not an interest in studying sickle cell, because it’s a disease that primarily affects African Americans and poor people. And quite frankly, the empathy for their disease has been lacking,” observed Dr. Love in an episode of the I am BIO podcast, Sickle Cell Survivors.

Funding for research is essential, but to get more investment, awareness about the struggles and challenges SCD patients face daily must be boosted.

“More is known now than ever actually about sickle cell disease, about care. But the community still experiences bias and health literacy challenges when accessing care,” said political strategist and TV news personality Symone Sanders-Townsend at the National Association of Black Journalists Convention in Birmingham in 2023. Throughout history, SCD has been “underfunded, understudied, undertreated,” she added.

Biotech gives hope to underserved communities

GBT was on a mission to find a cure for sickle cell disease. In 2019, the company’s work came to fruition with the accelerated approval of Oxbryta, the first drug targeting the cause (and not just the symptoms) of SCD. The hemoglobin S polymerization inhibitor improves the ability of the hemoglobin to hold on to oxygen and prevents it from forming chains that cause the sickle shape that creates many of the debilitating effects.

The company is already working on its second-generation therapy, which aims to stop the polymerization completely.

“I think that is entirely possible, and I predict that will be the future for sickle cell disease within the next ten years,” said Dr. Love in an interview late last year.

Since the approval of Oxbryta, sickle cell R&D has moved forward exponentially. GBT released two new drugs, Inclacumab and GBT021601 (GBT601), both receiving orphan drug and rare pediatric disease designations by the FDA.

In 2022, GBT was acquired by pharma giant Pfizer, giving the company an even bigger boost for the development of new and improved treatments in the pipeline. Pfizer said that the acquisition “complements and further enhances Pfizer’s more than 30-year heritage in rare hematology.”

“My hope is that people no longer die from sickle cell disease. I think we really are on the brink,” Dr. Love adds.

CRISPR technology opens door to new discoveries

The sickle cell community and CRISPR technology made history in December 2023, when the U.S. Food and Drug Administration (FDA) gave Vertex Pharmaceuticals and bluebird bio approval for their treatments, Casgevy and Lyfgenia, respectively.

Vertex’s treatment, exa-cel, a collaboration with CRISPR Therapeutics, could potentially be used in both SCD patients and patients with transfusion-dependent beta thalassemia (TDT), a disease where individuals require lifelong regular red blood cell transfusions to survive.

“Gene therapy holds the promise of delivering more targeted and effective treatments, especially for individuals with rare diseases where the current treatment options are limited,” said Nicole Verdun, M.D., Director of the Office of Therapeutic Products within the FDA’s Center for Biologics Evaluation and Research, upon the approvals.

As Bio.News previously reported, both treatments using CRISPR are the first FDA-approved cell-based gene therapies for the treatment of sickle cell disease (SCD) in patients 12 years and older.

“I am thrilled to see sickle cell disease patients have more options, and more on the way!” said Dr. Love of the SCD milestone.