Peter L. Salgo, MD: It just sounds awful. It is terrible. Here’s your wonderful baby and suddenly, not only is something wrong, but it’s bad. It’s lethal. What is the average life expectancy?
John Brandsema, MD: When we’re having this conversation with a patient with infantile onset, it is a very difficult discussion because the life expectancy would be about a maximum of 2 years of age without full support of nutrition and respiratory function. If you do support those 2 things fully, there are patients that live quite a long time with type 1 SMA [spinal muscular atrophy]. I have adult patients with infantile onset SMA, but even in the context of full supportive care, respiratory exacerbations can be lethal for patients.
In the milder forms, it’s much more slowly progressive. In type 2, where patients have sat but never achieved walking, they have an adult life expectancy with best supportive care in the natural history, young adulthood. In type 3, there’s actually no impact on life expectancy, they have a normal life expectancy.
Peter L. Salgo, MD: Just for the record, what is the effect on cognition?
John Brandsema, MD: There’s absolutely no effect on cognition, and so the patients are entirely intact with their cognitive function. It’s their body that’s failing them.
Peter L. Salgo, MD: You know it sounds good, but there is the flip side of that You’re aware, you know what’s going on, and you’re trapped. But, that’s got to be terrible. Do you interact with families? Do you hear about this at all?
Sika Dunyoh: Yes. As an umbrella organization, we have almost 300 members from the different disease state areas. One is Cure SMA, which is a patient advocacy organization involved in engaging with families and patients with SMA. We engage with them very closely, and it is very devastating for families. SMA families are very passionate about ensuring that there’s awareness out there with the provider community about the signs and symptoms of SMA. They are very engaged in CME [continuing medical education] programming to educate physicians on the symptoms. It’s a very devastating disease and so for NORD [National Organization for Rare Disorders], we try and do as much as we can to support that community.
Peter L. Salgo, MD: This is a long-term problem. These people live long lives, longer lives than you might expect, and they are continually requiring more care. What does the payer community think about all of this?
Maria Lopes, MD, MS: Unfortunately for type 1, these are the babies that usually never made it beyond 2 years of age. But certainly, for the types 3 and the types 4, I don’t even think we’ve characterized the expenses for these patients. Some of it may even be in productivity. If they face surgical procedures… There’s spinal support. As they lose motor function, there’s some resource utilization, but I don’t think we’ve really quantified the volume of patients. Some of them may not even have been diagnosed. With greater awareness now of the disease, perhaps we’ll find out more of who is affected. But, some of these patients may have lived most of their lives somewhat impaired but without a lot of resource utilization.
Peter L. Salgo, MD: But, this is a recurring theme. It’s a drumbeat with rare diseases. There are not enough of them out there to give you an end number, which gives you a lot of data. There are not a lot of them out there make it profitable for drug companies short of the Orphan Drug Act of 1983 to really aggressively seek them out and help them. At the end of the day, I have some sympathy for you, believe it or not, I do. This is because you’re flying blind. You’ve got to make a decision, you’ve got to help these folks, and you don’t have enough data to give you a sense of how much you’re in for financially in the long run.
Maria Lopes, MD, MS: It’s becoming more challenging to predict, and SMA is 1 of many orphan conditions to actually forecast what the spending is going to be, as well as what potential cost offsets we’re going to have. This is because those cost offsets may be over a lifetime, and hopefully they will be if there are really cures. But the challenge is that with these remarkable therapies, the expectation is hopefully for a cure, but we don’t know how long these treatments are actually going to last. Then there are the offsets. Are those offsets going to be real, and when are they going to occur?