Penicillin, the world’s first antibiotic, transformed medicine in the early 1940s. Yet, in the beginning, production was so costly that only small batches could be made. Albert Alexander, the first patient treated with penicillin, died from its insufficient quantity.
During and after World War II, production methods improved, sparking a medical revolution. Today, many are hoping for a similar breakthrough with sickle cell disease. Gene therapies offer a promising solution, but several significant obstacles prevent treatment access.
Why Does Gene Editing Help Sickle Cell Disease?
Sickle cell gene therapy may offer a better quality of life to patients with severe forms of the disease. The condition is hereditary, caused by a mutation in the hemoglobin genes. The defective genes change the shape of red blood cells, making them crescent-shaped.
These misshapen cells are more likely to clot in blood vessels and block oxygen flow. The blockages cause extreme pain, known as pain crises. Over time, sickle cells damage organs, increase risk of stroke, and can lead to death. In the U.S., around 100,000 people live with the disease, most of them African American.
In December of last year, the U.S. Food and Drug Administration (FDA) announced the first approval of gene-editing treatment for sickle cell disease. Approximately one-fifth of U.S. cases are severe enough to qualify for gene therapy. However, the cost is staggering. Each treatment is about two to three million dollars.
How Effective is Gene Editing Treatment?
Both sickle cell gene editing treatments, Casgevy and Lyfgenia, show promising clinical results. Following Casgevy trials, 36 of 39 patients experienced no pain crises for at least one year. For Lyfgenia, 32 of 34 patients had no severe pain crises for three consecutive years. These new treatments have helped around 100 people worldwide, including clinical trials.
However, gene editing comes with complications. It requires chemotherapy, which increases cancer risk and can lead to infertility. The entire process can take up to a year, deterring all but the most desperate sickle cell patients.
A new, experimental gene-editing therapy, Reni-cel, has also demonstrated positive outcomes. In clinical trials, all patients have been pain-free since treatment, without side effects. After five months, participants no longer had any sickle-shaped blood cells.
Reni-cel uses CRISPR/Cas12a gene-editing technology. For the first time, this tool has been applied to a human study. Renicel directly corrects the defective gene that causes sickle cell disease.
What Obstacles Stop Patients from Getting Gene Editing Treatment?
Gene editing treatment for sickle cell disease has been an excruciatingly slow process. First, hospitals and insurance providers negotiate complex contracts with providers Vertex or Bluebird. Then, the chosen company delivers treatment from one of its medical centers.
Both gene editing treatments also require substantial time and effort. Patients must remain hospitalized for at least a month during the process. Large medical centers in the U.S. report they can only treat 5 to 10 patients per year with gene editing therapy. Adding to these challenges, insurance can only reimburse hospitals after treatment concludes.
The necessary chemotherapy for gene editing deters many patients. Pregnant women must choose between risking fetal health and expensive fertility treatments. In the U.S., costs can exceed $10,000 for egg extraction, freezing, and storage.
Additionally, Lyfgenia has warned patients about an increased risk of developing cancer. In clinical trials, two patients acquired leukemia after treatment.
Despite these obstacles in the U.S., sickle cell disease devastates under-resourced regions. This is truest in Africa, where malaria is endemic. The sickle cell gene offers some protection against infection. The parasite struggles to develop in crescent-shaped blood cells.
Conclusion
Gene editing offers hope for sickle cell patients, but it remains out of reach for most. Significant challenges remain in making these therapies accessible. Closing the gap could transform life for millions living with sickle cell disease.
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Logan Hamilton is a health and wellness freelance writer for hire. He’s passionate about crafting crystal-clear, captivating, and credible content that elevates brands and establishes trust. When not writing, Logan can be found hiking, sticking his nose in bizarre books, or playing drums in a local rock band. Find him at loganjameshamilton.com.
Thank you, Logan Hamilton, for this surprising and hopeful look at sickle cell. Glad to get this update, (and surprised that sickle cell was an adaptation to avoid malaria. Wow.)