A young man named Daniel Cressy is the first person in Louisiana to successfully undergo gene therapy for sickle cell disease — and hopefully many others will soon be able to join him. At a press conference at Manning Family Children’s Hospital, Cressy described a two-year journey that culminated in him being declared functionally cured and how that has restored his dreams of becoming a pilot.
Being functionally cured means Cressy will now likely be freed of the excruciating pain and relentless, repeated internal organ damage that comes with the disease. He now has the potential to live a new life free of intense pain, repeat hospitalizations and social stigma. His story should be a beacon of hope for the approximately 100,000 individuals living with sickle cell disease in the United States. But for more people to have access to the same treatments as Cressy, there is much to be done.
Being functionally cured means Cressy will now likely be freed of the excruciating pain and relentless, repeated internal organ damage that comes with the disease.
According to the Centers for Disease Control and Prevention, more than 90% of people with sickle cell disease are non-Hispanic Black or African American. (An estimated 3%–9% are Hispanic or Latino.) For decades, most treatments were aimed at simply decreasing disease complications. Blood transfusions helped dilute the impact of sickled cells on vital organs. Penicillin protected young children from dying from sickle cell-related infections. Other treatments helped decrease pain crises. For those with a sibling donor, a bone marrow transplant was an option.
But the possibility of a functional cure for everyone did not come until the 2023 FDA approvals of the first sickle cell gene therapies — Casgevy and Lyfgenia.
Casgevy requires collecting blood stem cells and sending them to a specialized laboratory for editing to reactivate the production of fetal red blood cells. Following chemotherapy conditioning to remove existing stem cells, the edited cells are reinfused. The patient stays in the hospital, often for weeks, until the edited stem cells take root and repopulate the entire body with new red blood cells. Lyfgenia follows a similar process, but instead of being edited, the collected stem cells are inserted with a copy of the gene that makes the red blood cells normal again.
From the initial stem cell collection to the specialized modifications in the lab and eventual reinfusion, gene therapy can be quite involved. Lasting weeks to months, including the time spent in healthcare systems, gene therapy comes with a hefty price tag. Priced at $2 million to $3 million, gene therapy may seem out of reach for most Americans. Certainly, for many individuals with sickle cell disease who have limited or no access to health insurance, the cost may be prohibitive.
Yet, cost may not be the biggest limitation. Treatment centers, which are few and far between, are usually located far away from most patients in specialized urban centers. Additionally, the process is long and physically demanding. Most individuals require at least one family member or close friend to walk through the process with them, meaning they may need to take time off work and be available as support when the inevitable treatment challenges arise.
Gene therapy is also not without its own concerns. For example, there is the high risk of infertility. Young people who still want to have children following treatment must reckon with the costs of sperm or egg cell banking. Also, not everyone may be a treatment candidate. For those who have experienced permanent organ damage from the repeated effects of sickle cell crises, the treatment process may be too physically demanding to tolerate.
Even when they can tolerate the procedure, patients may not see a reversal of long-term damage to the kidneys, brain and lungs. Finally, the chemotherapy conditioning or gene insertion process may lead to a small long-term increased cancer risk. Therefore, individuals considering sickle cell gene therapy must carefully weigh the risks and benefits in conversation with their healthcare team.
For many individuals, these factors come together to create the perfect storm that could put gene therapy out of reach.
For many individuals, these factors come together to create the perfect storm that could put gene therapy out of reach. However, according to Casgevy’s manufacturer, Vertex, the numbers of people receiving gene therapy like Cressy may be on the rise.
These rising numbers give me and other African American doctors with the National Medical Association hope. Despite the many challenges, gene therapy has the potential to become more widely available. However, Cressy’s path to a cure could prove too difficult for others to follow without substantial investments in access and help beyond the healthcare system.
As concerned healthcare providers, we want to partner with payers, drug manufacturers and policymakers to expand access to these life-altering treatments. First, payers can design insurance coverage policies and reimbursement models that make gene therapy more affordable. Second, drug manufacturers can work to expand the number of available treatment centers in underserved communities. Third, policymakers can help establish the regulatory frameworks that support innovative delivery models. Finally, the federal government can support researchers and industry partners with federal funding to develop more innovative therapies in sickle cell and other rare diseases.
Beyond these large-scale interventions, loved ones and allies can help reduce the logistical and financial burdens associated with treatment, including transportation, caregiving responsibilities and temporary accommodations. Everyone has a part to play in getting more people across the finish line.
As we celebrate Cressy’s rare achievement, I am filled with hope that a functional cure for sickle cell remains on the horizon for many others within the Black community. For many who are struggling with the burden of this disease, Cressy’s story is a true inspiration.
Gene therapy may be out of reach for most people today. However, the growing number of people who are gaining access tells us that a day may come when the terrible consequences of sickle cell disease become committed to the annals of history.
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