Treatment Goals and Multidisciplinary Management of SMA

Peter L. Salgo, MD: If you decide to treat, what are the goals of treatment? Is it to improve their clinical situation right now, or can you merely say we’re not going to see it progress as rapidly as it might otherwise go?

John Brandsema, MD: I think the natural history was again to just support care as much as possible and optimize function. But since 2016, we’ve had a disease-modifying therapy that, in the research trials, showed that it actually allowed for development to occur in the children and for them to improve in terms of their function. As somebody who deals with neurodegenerative disease, for me, somebody staying the same over a period of time when the expectation would be that they would get worse is a huge therapeutic impact. Even changing the trajectory of that worsening would be a therapeutic impact. But here we’re actually talking about gain, which is something that would have been inconceivable when I was in medical school talking about these disorders—that we’ve been making this much of an impact on these diseases within my career. Yeah, it’s amazing.

Peter L. Salgo, MD: To have this discussion, to hear you say that, and to see you having this problem, is ridiculously great. I’m glad you have this problem, and I’m glad that you’re battling about it because it means that there’s something else going on. I mean, this is wild. What is the medical management with SMA [spinal muscular atrophy]? We’re going to get to the new drugs. But what was out there before? What was the standard cocktail? What do you do? Is it respiratory muscle exercise? What is it?

John Brandsema, MD: For every patient with SMA, they’re going to have limb weakness, and that involves physical and occupational therapy, orthopedic management of contractures, and other complications in that realm, as well as assistive devices to try to optimize function. As you get more severe, scoliosis of the spine also becomes an issue orthopedically. Then in the most severe forms, you’ll have the bulbar respiratory issues, and that involves nutrition management and sometimes supplementation of nutrition. It also involves respiratory management—staying ahead of the respiratory dysfunction and respiratory failure that can happen—through techniques such as cough assist, assisted ventilation, and all these other techniques.

Peter L. Salgo, MD: There are GI [gastrointestinal] issues too, right?

John Brandsema, MD: Yeah. That can be a motility problem, and also reflux can happen.

Peter L. Salgo, MD: Anesthesiologists when facing this disease have real issues. They get very afraid, appropriately. This seems to me to require a multidisciplinary approach. Do the parents get this?

Sika Dunyoh: Some do.

Peter L. Salgo, MD: That means some don’t.

Sika Dunyoh: And some don’t. There are families that, as I mentioned earlier, are very engaged and are at the front lines with their children on what’s happening in the particular disease as far as research and care advocacy. Then there are some that just are trying to make it day-to-day or are just trying to manage the challenges of having a child with SMA and then other children in their family to tend to. I think that engagement and knowledge varies greatly, not only with the SMA community but many of the other rare diseases.