The idea of gene therapy has been around for several decades, but in 2017, the first gene therapy drug, was FDA approved for the treatment of vision loss in those with a certain type of inherited eye disease. The drug, Luxturna, was developed by research scientist Jean Bennett, MD, PhD with the aid of Albert Maguire, MD and is produced by Spark Pharmaceuticals. With a cost of $850,000, Luxturna is the most expensive medication in America; though the price has set a national precedent, the benefits of the drug outweigh the cost, according to patients and their families.
Gene therapy has had a turbulent history. In the 1990’s, the field was gaining traction until a teenaged participant died during a clinical trial (Johnson, 2018). Four days after receiving an injection of adenovirus vector particles into his liver, an 18 year old study patient died when his body presumably had an immune reaction (Savulescu, 2001). Research in gene therapy quietly forged onward for different diseases and deficiencies, being careful not to let history repeat itself.
Jean Bennett and Al Maguire met in medical school and were wed in the years afterward. Dr. Maguire started his career in ophthalmology as Dr. Bennett started hers in gene therapy research and in the 90’s, they explored ways to regain vision in mice with a particular genetic blindness (Kaiser, 2018). The genetic cause for this vision loss, Leber congentical amaurosis, occurs because they have been born with an errant RPE65 gene (Johnson, 2018). Once able to improve the vision of LCA in mouse studies, Bennett and Maguire ran the drug study on their dogs with similar results (Kaiser, 2018).
Human trials began in 2007. The drug, which also used the adenovirus as a vehicle, is injected directly into the posterior retina, affecting a small region instead of an entire organ (Kaiser, 2018). Able to repeatedly yield successful outcomes, the FDA approved the gene therapy drug voretigene neparvovec-rzyl, or Luxturna. The injection has been approved to treat only those with the RPE65 gene mutation, but the drug is being seen as a starting point for the possibilities in future gene therapies (FDA, 2017).
In 2013, The Children’s Hospital of Philadelphia (CHOP), where research trials were being conducted, created Spark Therapeutics to produce the drug (CHOP, 2018). Spark hired a team of analysts to research the cost of blindness and, inversely, sight through lawsuits and court settlements in which victims lost their sight (NBC, 2016). This information, with cost analyses of similar therapies, yielded the conclusion that Luxturna could be worth over a million dollars for the one time treatment (Johnson, 2018). To reduce insurance restrictions for patients, the price of $850,000– $425,000 per eye—was decided upon (Johnson, 2018).
It is important to note that the pharmaceutical company that has set the cost for the drug is a non-profit organization and that the two doctors behind the discover of the medicine do not make money off of Luxturna (NBC, 2016; The Episcopal Academy, 2018). Additionally, it is a common practice for insurance companies to negotiate prices of treatments and services behind the scenes, so the price may very well get reduced on the back-end (Johnson, 2018).
Luxturna is expensive but vision is priceless.
The most important variable in the drug are the patients. The one to two thousand children and adults in America with Leber congenital amaurosis suffer from gradual vision loss and eventual irreversible blindness (FDA, 2017). Treatment with Luxturna typically has a more desirable outcome when the patient is younger and with less disease progression but young adults have also experienced positive results (Winn, 2019). Children may notice the best improvements after the procedure but adults who have developed severe vision loss even report that the amount of vision they have regained following the Luxturna treatment was “beyond expectation” (Winn, 2019). Patients may not be expected to fully regain vision, but what they have regained is often enough for them to participate in sports and even obtain driver’s licenses (Kaiser, 2018).
The cost of the first-of-its-kind medication is staggering but the price of Luxturna may drop in the future. Although the price for Luxturna is record setting, the cost is greatly reduced through health insurance and patients state they feel the results are worth the efforts, both physical and financial, that it took to get there (Winn, 2019). Over a decade has passed since the first human trials of Luxturna and the participants in the first studies have had stable results since being treated (Kaiser, 2018). The patients in the original Luxturna trials, as well as the patients who have received it since then, are all monitored to study the long term effects of the drug. Spark Therapeutics is taking steps to partially refund insurance companies for those who have received the treatment and had no vision improvements an is in the process of establishing discounts and installment plans for the costs though Medicare and Medicaid programs as well (Johnson, 2018).
The most important variable in the drug are the patients.
Luxturna is expensive but vision is priceless. Analysts can review legal cases and compare treatment costs but there is a human factor in determining the value of sight that makes setting a price seem cold. Many of those faced with vision loss would gladly spend the money if it meant the prevention of total blindness but, even with a high success rate, improvement or determent of future deterioration is not guaranteed. Gene therapy is a relatively new treatment in medicine and perhaps the cost will decline in time but until it does, Spark Therapeutics will continue to work toward making the Luxturna treatment available for people who need it.
Children’s Hospital of Philadelphia. (2018, December 5). “Children’s Hospital celebrates European Commission approval of first-of-its-kind gene therapy for blindness”. [Press Release]. Retrieved from https://www.chop.edu/news/children-s-hospital-celebrates-european-commission-approval-first-its-kind-gene-therapy
Food and Drug Administration. (2017, December 19). “FDA approves novel gene therapy to treat patients with a rare form if inherited vision loss”. [Press Release]. Retrieved from https://www.fda.gov/news-events/press-announcements/fda-approves-novel-gene-therapy-treat-patients-rare-form-inherited-vision-loss
Johnson, C. (2018, January 4). “Gene therapy for inherited blindness sets precedent: $850,000 price tag”. Washington Post. Retireived from https://www.washingtonpost.com/news/wonk/wp/2018/01/03/gene-therapy-for-inherited-blindness-sets-precedent-an-850000-price-tag/?noredirect=on&utm_term=.8dda910b0bb2
Kaiser, J. (2018, December). “A new treatment for blindness comes from gene therapy”. Smithsonian Magazine. Retrieved from https://www.smithsonianmag.com/science-nature/new-treatment-blindness-ingenuity-180970719/
NBC Nightly News (Producer). (2016, January 16). “This gene therapy drug is the most expensive drug in America”. . Retrieved fromhttps://www.nbcnews.com/nightly-news/video/this-gene-therapy-treatment-for-blindness-is-the-most-expensive-drug-in-america-1427219523728
Savulescu, J. (2001.) “Harm, ethics committees and the gene therapy death”. Journal of Medical Ethics 2001;27:148-150.
The Episcopal Academy (Producer). (2018, May 11). “May 4, 2018: Dr. Albert Maguire, distinguished alumnus (Alumni Chapel)”. . Retrieved fromhttps://www.youtube.com/watch?v=pJRguKa0e0Q
Winn, L. (2019, July 10). “Gene therapy gives people with inherited eye disease a new perspective on life”. Retrieved from https://abcnews.go.com/Health/gene-therapy-people-inherited-eye-disease-perspective-life/story?id=64228842&cid=clicksource_574_null_bf_hed