A huge breakthrough has been made in the fight against Sickle Cell Disease. In December 2023, The Food and Drug Administration (FDA) approved two cell-based gene therapies for sickle cell disease (SCD), Casgevy from CRISPR/Vertex and Lyfgenia from Bluebird Bio.
These are the first treatments available to individuals with SCD in the United States. This significant milestone is worth celebrating, but medical professionals and other experts caution that more research must be completed.
“Gene therapy is an exciting and potentially curative addition to the treatments available to sickle cell warriors. This is a historic milestone, but everyone may not be eligible for gene therapy. We must continue to move forward with research to ensure a solution for every member of our community.” Regina Hartfield is the president and CEO of the Sickle Cell Disease Association of America Inc.
The FDA approved Casgevy and Lyfgenia on December 8. Both treatments will be available for SCD patients in 2024. SCD is an inherited red blood cell disorder. According to the CDC, Red blood cells contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round and move through small blood vessels to carry oxygen to all body parts. In someone with SCD, the hemoglobin is abnormal, which causes the red blood cells to become stiff and sticky and look like a C-shaped farm tool called a “sickle.”
The results of these abnormal cells are cramping and throbbing pain in different body parts that can last from days to weeks. Individuals with SCD can have a normal life. Those people manage their stress and hydration to avoid episodes of pain from SCD.
“My biggest thing to keep the crises away is activity and hydration. I hydrate at least two and a half liters a day,” said Gaston Gregoire, A nurse practitioner who has sickle cell.
“I am very active. I cycle about 100 miles a week and go to the gym at least three times a week. I think, more than anything, growing up with a disease made me into who I am. I’m very disciplined and organized. I do as much as possible to avoid being in the hospital and live a normal life as much as possible,” said Gregoire.
In an official statement from the Sickle Cell Disease Association of America, they explain how gene therapy is “potentially curative.” The statement explains that the treatment is so new that more data is required to understand its impact and patient prognosis. Additionally, the word “cure” suggests a simple solution that does not reflect the reality of these therapies. Even after treatment, the FDA recommends 15 years of patient monitoring for health issues.
The statement illustrates how effective gene therapy is. This method significantly reduces acute sickle cell pain episodes within a few years of administration. Gene Therapy will need more years of follow-up to determine whether it will also reduce the organ damage of sickle cell disease and if the stem cells treated continue to produce non-sickling red blood cells for the rest of the person’s life or if the stem cells die off over a certain number of years.
Another concern connected to this news is cost. Gene therapy is estimated to cost 2 million dollars, according to the official statement from the Sickle Cell Disease Association of America.
The statement further explains that the savings in lifelong care may exceed the one-time cost of treatment.
“This new medication, I think, is a game changer if it can effectively reduce the number of complications from sickle cell, but the number being thrown around needs to come down. It seems prohibitive,” said Dr. Gerald Acloque, owner of Florida Concierge Medicine and Wellness.
“Being in research, I know it takes a lot of R&D, money, and years of research to fund, but there must be a way to bring this price point down,” said Dr. Acloque.
The FDA’s approval of gene therapy is remarkable because it begins a new chapter of treatment for sickle cell disease. Until now, the only way to cure sickle cell disease was through a bone marrow transplant, which is not a widely accessible option because it requires a matched bone marrow donor. Gene therapy does not require a donor, and it has the potential to be a more widely available treatment. Casgevy and Lyfgenia have opened the door for other gene therapies to gain approval and help advance research into other potentially curative treatments.
“Medications like these that are on the cutting edge were things I heard about when I was in residency. Now they are coming to fruition as real therapeutic medications are game changers not just for this one disease but any other genetic-based disease,” said Dr. Acloque.