Rare Neurological Diseases: Spinal Muscular Atrophy and Huntington's Disease - Episode 17
John Brandsema, MD: It’s a challenge when you’re trying to navigate the initial policies that come through for these medications. I can give you some practical examples.
Peter L. Salgo, MD: Please.
John Brandsema, MD: You gave age as 1 of your criteria, and I think as an SMA [spinal muscular atrophy] specialist, I would say I don’t understand that arbitrary line. Because if you’re talking about somebody who’s just starting to have symptoms of SMA when they’re an adult, the FDA says that this medication can benefit anybody with SMA based on the data that were presented to them from their trial. So why are you not giving access to this treatment to an adult living with SMA?
Peter L. Salgo, MD: I was going to ask that.
John Brandsema, MD: There doesn’t seem to be any data-based reason why that should occur versus somebody who was very severe with their initial presentation, may even be symptomatic at birth, who would be less than that age. But there might be another argument for why the therapy might not be as efficacious if somebody has lost a lot of motor neurons already with this disorder. You’re trying to save what’s left or give some other aspects of how SMN deficiency is affecting the patient. This is what you’re trying to rescue with the treatment. Another thing that we came into early on was that in the research trial, the SMN2 copy number was actually 1 of the inclusion criteria for the pivotal trials—the ENDEAR study and the CHERISH study. A lot of the payers initially were saying we will only cover people with a certain number of SMN2 copies. But in our clinics, we sometimes don’t even test the SMN2 copy number for our patients because once we know they have SMA with the SMN1 deletion, and we know when they started with symptoms, that really is irrelevant for the patient. Any person living with SMA has to have SMN2 because if you didn’t have SMN2….
Peter L. Salgo, MD: You wouldn’t be alive.
John Brandsema, MD: Exactly. That was my argument on the phone when I was trying to get people through the policy here, but it involved needing to do some extra genetic testing for some of our patients just to prove that they had the SMN2 gene to begin with. But there’s no reason to say that somebody with 4 copies versus someone with 2 copies would or would not benefit from this medication. It’s clear that it benefits everybody who’s treated with SMA.
Peter L. Salgo, MD: Work in progress.
Maria Lopes, MD, MS: It’s a great example of, we don’t know what we don’t know, and that’s where we need better communication between us.
Peter L. Salgo, MD: How much does the drug cost?
Maria Lopes, MD, MS: Year 1, it costs $750,000.
Peter L. Salgo, MD: Year 1?
Maria Lopes, MD, MS: Year 1, and that’s because of the loading dose as described.
Peter L. Salgo, MD: OK. Thereafter?
Maria Lopes, MD, MS: After that, it’s a little under a half a million dollars.
Peter L. Salgo, MD: So it costs three-quarters of a million dollars in year 1 and half a million dollars per year thereafter.
John Brandsema, MD: That’s just the medication, let alone how complicated this is to get to some of our patients because it’s an intrathecal delivery in patients who have scoliosis and respiratory involvement.
Peter L. Salgo, MD: It’s tricky.
John Brandsema, MD: You mentioned anesthetists are scared of this disease.
Peter L. Salgo, MD: You’re going to have to give them something, sedating them.
John Brandsema, MD: Procedural support, yes. It’s a challenge to logistically deliver as well.
Peter L. Salgo, MD: It’s tremendous expense, and as I understand it, correct me if I’m wrong, the object is to make people not only live better but live longer. So the better this drug works, the longer they get it; at half a million dollars a year, this is an expense that is real.
Maria Lopes, MD, MS: It’s real and hopefully it is doing something. Hopefully it has capacity to benefit, improving quality of life as well as survival.