The science of modifying human DNA to correct defective genes has come a long way since the first studies in the late 1970s. More often these attempts were considered failures than successes.
However, the approval of viral vector-delivered Zolgensma (onasemnogene abeparvovec-xioi), for infants with spinal muscular atrophy (SMA), changed everything. It not only targets the defective motor neuron cells, but alters them permanently so they function properly. It is not a treatment, it is a cure, and a new benchmark in gene therapy.
In May, Zolgensma, developed by Illinois-based AveXis, a Novartis company, was approved by the FDA for SMA. With a single one-time infusion therapy costing more than $2 million, it was labeled the most expensive treatment in the world.
Researcher and AveXis president, Dave Lennon, PhD offers some background that lead to the discovery of this unprecedented, life-saving therapy.
“We were studying gene therapy for decades under the assumption that, with the Human Genome Project, gene therapy would be right around the corner. But the reality was it took decades to figure out how to deliver the therapy safely and effectively, and get FDA approval.”
Trending: The Redefinition of Pharmacy Jobs
SMA is a disease that affects 1 in 6,000 to 10,000 live births. The most severe form, SMA 1, causes death usually before age 2, but some people with other forms of SMA live to adulthood and, in one form, do not show symptoms until after early childhood. It is caused by a genetic defect in the SMN1 gene that codes for the protein necessary for survival of motor neurons. In its most severe form, SMA Type 1, there is rapid motor neuron loss, muscle degeneration, and a need for permanent ventilation support in the child. Zolgensma is basically the functional gene needed to replace the defective one, Lennon says.
“Delivery is a one-time intravenous infusion, given over an hour. It’s pretty straightforward and uneventful. But you have to get this to patients as soon as they are diagnosed, as loss of motor neurons is permanent.”
The life-saving effects of Zolgensma are there, but its price of $2.125 million has added to the media attention and debate about drug pricing for this new gene therapy.
B. Douglas Hoey, RPh, MBA, CEO of NCPA, sees Zolgensma as a call to action for pharmacists.
“First of all, this drug deserves a big hoorah; thank goodness it exists, and thanks to the scientists that led us to figuring out this technology and process to cure this terrible disease. That is the top line,” he says.
“Second, is how we pay for it. When gene therapy becomes mainstream, which I believe it will, then those costs will be absorbed by a wider population. Then there will be less individual expense associated with a respective disease as costs are spread out and borne by employers and insurance companies.”
Read More: 10 Fast Facts About Shingles
Hooey adds that the payer world will need to catch up with these breakthrough therapies.
“They’re used to reimbursement models of chronic, ongoing care, often for the life of the patient. Now, we are looking at a very near future where a high-cost one-time treatment like this drug potentially eliminates or vastly reduces those lifetime costs.”
An Old Price Shock Revisited
The dialogue about Zolgensma’s price harkens back to an earlier, similar scenario.
Dorothy Keville, MEd, recalls when AZT was launched in 1987. Keville, co-founder of the 1995 AIDS Drug Assistance Program (ADAP) Working Group, explains: “This was the first and only treatment for HIV/AIDS at the-then outrageously steep price tag of $15,000. At that time, no one had ever challenged the market, and it took unheard of collaboration with the manufacturer, AIDS activists, and policy makers to create the ADAP program for patient access and drug reimbursement,” she says.
Continue reading on page 2...