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Quantifying and Measuring Treatment Success in SMA


John Brandsema, MD: From the perspective of somebody who doesn’t have a clinical background, it’s pretty intuitive to understand what living with weakness might mean for you. You can imagine, if your body doesn’t move the way you expect it to, what kind of impact that would have on your day-to-day function and how many ways it impacts you.

It’s what we all take for granted. When I finish speaking here, I’m going to get up from my chair and walk out the door, and I wouldn’t think twice about being able to do that. If somebody is living with weakness, then they have to think about everything they intend to do in their lives and whether they need help to do that. Some people are dependent on machines and other people to accomplish almost anything

Other people can do quite a few things for themselves with SMA [spinal muscular atrophy] and can be creative about some of the things that they’re challenged by. I’m constantly inspired by how much quality of life many of my patients have. Some of them honestly make me feel like a bit of a slacker because all I managed to do was to get to work that day, and here they are doing all these amazing things with their lives that I haven’t had the bandwidth to be able to think about doing.

The concept is that, if you’re looking at a therapeutic response, yes we can measure it with our scales. But what’s happening in that person’s day-to-day life is the bottom line in terms of how they’re experiencing their disease, including having less fatigue so they are more able to sustain activities. I have a patient who is dependent on switches for schools, and when they started having difficulty with that in their natural history, it essentially locked them in in terms of being able to learn because they had no way to communicate what they were thinking. When they went on to treatment, they were able to use the switches with more sustained strength again, they could attend longer sessions of school and be able to do more test work and again start to achieve things. He’s now in post–high school studies.

This was a huge change in the quality of life for that patient that isn’t easily measured on any of our functional skills, but it meant something significant in that person’s ability to interact with society and achieve things. You can get into practical aspects of this too. You can think that, if somebody’s respiratory function is more preserved, they can get a cold without that being an ICU [intensive care unit] experience for them. So interacting with the outside world is much more safe and straightforward.

In 2020 of course, for all of us, this is bit loaded with the pandemic going on. But being able to interact and have as high as possible an interaction in a school setting, in a work setting for adults living with SMA, or in social and community settings is really important for minimizing the impact of the disease that’s chronic and degenerative like SMA for the people living with it.

Consultant: Alexion, Audentes, AveXis, Biogen, Cytokinetics, Genentech, Momenta, NS Pharma, PTC Therapeutics, Sarepta, Scholar Rock, WaVE
Research support: Alexion, Astellas, AveXis, Biogen, CSL Behring, Cytokinetics, Fibrogen, Genentech, Pfizer, PTC Therapeutics, Sarepta, Summit, WaVE
Speaker: AveXis and Biogen

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