Philippa Cheetham, MBChB, MRCS, MD, FRCS: We have to strike a balance between patients getting the best possible care in a center of excellence versus the inconvenience of travel and how far away an individual family may be from an expert like yourself. And obviously, it's not a 1-size-fits-all. But do you advocate that all patients with spinal muscular atrophy [SMA] should be coming to somebody like you and accepting that there's a big inconvenience factor in traveling, but the trade-off is they’re going to get better care?
Or do you think that we need to do more to educate community neurologists to do a better job for patients closer to home? What do you think is the ideal way to manage patients with spinal muscular atrophy so that they get the best possible care without all the inconvenience of trying to travel miles and miles to see somebody who may not be on their doorstep?
Crystal Proud, MD: And we do. We have patients who travel from many states away to come to our center, and we’re very fortunate that they find benefit in that. I think that we need to strike a new interest in the subspecialties of neuromuscular neurology. And so my hope is that medical students who rotate with me will see the enthusiasm that we have in this field and will go into neuromuscular neurology in the future.
I do believe that every patient with spinal muscular atrophy deserves to see a neuromuscular neurology expert. I think they deserve that comprehensive care that comes along with a center that has experience in not only treatment options but the other multidisciplinary care that is necessary to be able to optimize these patients’ lives.
So even if it is not where they receive their treatment routinely, I think it really would benefit every patient to go to a center of excellence for consultation on some frequency, to be able to follow up and make sure that they are keeping up with the standards of care for SMA and also that they're able to participate in new and exciting research. The job is not done.
We have 2 FDA approved treatments but we have more, hopefully, that will be coming, and we want to be able to offer this to all of our patients. Everyone deserves the opportunity for treatment. Everyone deserves the opportunity to participate in a clinical trial, if that is within their wish and within their choosing.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: I have to say looking at this as an outsider, as a non-neurologist, it looks extremely optimistic that for a disease that affects 1 in 10,000 people, there appear to be a lot of new data coming out. There is consolidation of data in centers of excellence. You have good trial data to support what you're doing. You have drugs that are very effective with minimal systemic adverse effects.
And it appears that many patients who are getting to the right people at the right time are getting the appropriate funding to receive these very expensive therapies. Where you think the treatments will go from here? What do you think, if you are putting money into funding for further treatments for SMA, where do you see the direction that it's going? Do you think that gene therapy, there are more milestones to be met here?
Crystal Proud, MD: I would like to see that we are utilizing multiple modes of mechanisms of action. That's what we're taught in medical school, is looking pharmacologically at mechanisms of action. And I would like to optimize all mechanisms of action. If we can administer gene therapy and deliver this SMN1 transgene, awesome. If we can optimize the SMN2 protein production with things like Spinraza, great.
And then, we're looking at agents that may stabilize that muscle membrane and be able to stabilize muscle structure through other products that are in clinical trials right now that we’re really optimistic would be utilized in conjunction with either of those other FDA approved treatments. And so I really do see it being a combination approach in the future.
Philippa Cheetham, MBChB, MRCS, MD, FRCS: Now you have a treatment already that's very efficacious, but it's requiring maintenance therapy and spinal taps. Is there an option of taking oral medications for maintenance therapy, where Sebastian could take a pill every day and not have to rely on monthly infusions?
Crystal Proud, MD: There is a medication that has been submitted to the FDA for review. It’s called risdiplam, and it may be FDA approved within the next year. We'll have to see. It has demonstrated in clinical trials efficacy within patients who have spinal muscular atrophy, and it is an oral agent. It’s not quite a pill, but it does come as something that ultimately is made into a liquid that is taken several times a day. When we think about oral agents, we have to consider their mechanism of action.
It acts on that SMN2 gene once again. And then we have to think about other things, since it is systemically introduced, as far as adverse effects and efficacy long term. And so we still need to gather some more information about that, see what the FDA has to say, and hear what the potential adverse effects may be, and then have an open discussion with our patients about all of those things.