Ongoing Clinical Trials & Managing Patient Expectations


Philippa Cheetham, MBChB, MRCS, MD, FRCS: Before we go on to talk about treatment goals versus patient expectations, are you running clinical trials at the moment in your center with drugs other than Spinraza?

Crystal Proud, MD: We are, we’re participating in clinical research for 1 of the newer therapies for spinal muscular atrophy [SMA] that is looking at a cocktail combination approach for patients who have received SMN [survival motor neuron protein] upregulating therapies, like Spinraza [nusinersen], to use along with that something that’s called SRK-015, which is being made by a company called Scholar Rock Inc, looking at stabilizing that muscle membrane.

Philippa Cheetham, MBChB, MRCS, MD, FRCS: Now talking about patient expectation, you set a very rosy picture of the fact that most patients who have these treatments do respond. And it's almost expected that they're going to do extremely well, that the outcome is good, and you have this ongoing maintenance therapy and very objective milestones that you can measure. How do you have that conversation about patient expectations to give them hope but also be realistic about the treatment options and what to expect, both short term and long term?

Crystal Proud, MD: I think it's important to recognize that Sebastian is actually quite rare in the level of strength that he has with his diagnosis. He is able to walk. He has independently accomplished graduating from college and holding down a job and driving a car. And I'm hopeful that with treatment that that will continue. So many of my patients have significant physical disabilities. And so you're right.

Setting the stage for those expectations, if you have been in a power wheelchair for 20 years, I don't know that this therapy is going to be able to have you leave that power wheelchair because you've already lost a certain degree of motor neurons that may not be recoverable. And so we have an honest and open dialogue about what our hopes are and what our expectations are.

You'd be surprised, or maybe not, at the level of realism that my patients have, that they recognize that there is a limitation to some of the things that they may be able to accomplish even with therapy. But as long as we can identify what their goals of treatment are, then I can say whether I think those are realistic goals of treatment. And usually, they are.

Philippa Cheetham, MBChB, MRCS, MD, FRCS: You’ve talked about how well Sebastian has done. Do you think that's because of the severity of his type of SMA for his age? Or is it just because he's on the younger end, at 23 years old, getting treatment, that the outcome, one would expect, would be much more optimistic than somebody who's getting the same treatment at 43, 53 years old, for example?

Crystal Proud, MD: My patients who are making it to age 23 and 43 and 65 do tend to have the milder phenotype. And so, they've already started from a level that is stronger than some of my patients who were diagnosed at a young age because of more profound weakness. So you're right. I do think it's more based in the genetic characterization of his disease.

Philippa Cheetham, MBChB, MRCS, MD, FRCS: Two final questions. We hear so much about these rare diseases and also, regarding cancer, that patients want to know what else is out there other than the conventional treatments. Do you get a lot of questions about holistic therapies or vitamin supplements or any other integrative medical treatments that have been discussed?

Crystal Proud, MD: I think your parents asked me about that. Yes, his parents asked me about that when we met. Vitamin D is certainly something that's helpful, and that's something that I try and encourage all of my patients to take to optimize bone health. We know that bone health in our patients with neuromuscular disease is impaired because bone health is, at least in part, due to the force on those bones, which is given to you by muscle and nerve.

Optimizing bone health with things like vitamin D and calcium can be helpful. From a genetic perspective, there's not necessarily a supplement that's going to help upregulate your SMN production. And so, apart from optimizing nutrition and weight, and optimizing your bone health from a supplemental perspective, there's not a whole lot in the way of other supplements or things that I would traditionally recommend.

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