Beyond the Friedreich's Ataxia Basics
Segment 2: Treatment and symptom management of FA
Segment 3: Lifestyle and day-to-day-management of FA
In segment 2, our hosts Andrew and Esther Schorr discuss the current treatment and management landscape of Friedreich’s ataxia (FA) with neurologist and FA expert David Lynch, MD, PhD, and our panelists living with FA, Matt Lafleur and Kendall Harvey.
With the recent approval of Skyclarys (omaveloxolone), people with FA now have the first targeted treatment for their disease. Dr. Lynch discusses setting expectations for people on Skyclarys and what results might look like for individuals, as well as the regular monitoring and checkups that physicians should be performing for patients on the therapy.
Kendall also discusses her experiences in the clinical trials for Skyclarys, and she and Matt talk about what having the first approved therapy means to them and the FA community as a whole.
They also discuss what else people with FA can do to maintain muscle function and strength, including the importance of exercise and physical therapy in combination with treatment.
Andrew: Let’s go ahead and move to our next segment, OK. And this one is our second segment. And it’s about treatment because quite frankly we’ve had a big change in FA. And we want to cover that in the management and also understand where we’re headed. So, Dr. Lynch, I want to understand what is this significant step Matt has told me previously was like the dam broke on possible therapies and an approved therapy now. For FA, what’s changed?
Dr. Lynch: So while we have always had the ability to manage some of the symptoms — some of the neuropathic pain, the spasticity and spasms that occur, the depression that occur with the disease, certain aspects of the cardiac disease and the heart failure; we’ve had symptomatic medicines for that — those only treat the symptoms.
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- Recently, the FDA has approved a drug — generic name omaveloxolone; now this trade name Skyclarys — for treatment of FA for the neurologic features, and on the concept that it may not only improve people in their abilities initially, as well as perhaps slow progression over a longer period of time. That’s what the data basically indicated in this series of four studies which went into that approval.
Andrew: Okay, now we should mention, Kendall, you have been in the clinical trial, and hats off, everybody in the community has to thank you because it’s people like you that have helped lead to approval. So you take, is it three pills a day? Is that what you do?
Kendall: Yes. So I started the trial in August of 2018, and it was a double blind, placebo-controlled study. So, for 48 weeks, I didn’t know if I was on the drug or the placebo. And my village and I waited with bated breath to see if this was it, the drug that could finally combat my DNA. And we’ve known for pretty much from the beginning that the cure for FA would be a cocktail of a bunch of different treatments, but we definitely hope that this drug would prove to be a vital result, showing the first ingredient that could at least slow my progression. And so now, after the 48-week trial, I started the open label.
So I’ve been officially on the drug since September of 2019. And it’s hard to put my thoughts into words since I don’t have two Kendalls simultaneously going through FA — one on the drug and one not. It’s hard to say if the drug works or not. But since my participation in the trial began, my original symptoms have progressed. It’s just — it’s hard to — with all of my experiences racing around in my head, it’s hard to paraphrase my feelings about the drug approval announcement, but I think about the hope that this treatment would have given 2013 Kendall that was newly diagnosed. I think about the validation it would have given 2018 Kendall that all of the taxing requirements to participate in a cross-country trial are worth it. And then I think about what it means to 2023 Kendall. And I’m celebrating the success of the trial and patting my fellow clinical trial participants on the back.
And I’m full of gratitude and excitement, and I’m desperately praying that everyone remains urgent in our pursuit of that next ingredient in the cocktail, while I’ll continue to take my medication every morning full of hope that it’s having a positive impact.
Andrew: Amen. Well, I want to ask Dr. Lynch in a second about expectations, but just Matt, a comment from you. You’ve been living with FA a long time. How do you view basically the first approved medicine?
Esther: And how do you think the community is going to react, and how are they going to feel about it, because you’re so involved?
Matt: Well, first of all, I completely feel for you, Kendall, because I know that we all want a silver bullet and we’re waiting for that. We’re waiting for the full cure. But that’s not in the deck for us right now. But what we do have is our first treatment. The fact is that FA was completely untreatable for most of my life and for, you know, for most of the love of life. So the fact that we are the first dream and approved in 2023 is, I use the word “game-changing” because I think that’s pretty valid. You know, it looks like a little bit of hope.
Like Kendall also said, we’re not done yet; the work isn’t over. We have a lot more clinical trials to participate in. We have a lot more access to see through — both geographical and age access. So we want more people to be on the treatment that’s out. And we’re so excited that we moved from zero treatments to one treatment. So now we have to get from one to two and continue going from there. So I think overall the FA landscape is really excited about it and hopeful for that.
Andrew: Well said. Dr. Lynch, then let’s talk about expectations. So this is something new, approved as safe and effective for people, I think, 16 and older. So what should expectations be?
Dr. Lynch: I would go directly to what the data show from the study. Think about on average, being one year back in time as opposed to one year progressed in time. That’s the average response within the clinical trial. Now, some people do better than that. Some people don’t do as well as that. It’s the natural normal human variability within any sort of treatment.
Also, realize that the benefit creeps up on you. It doesn’t — you don’t snap your fingers and all of a sudden you’re better. The maximum benefit occurs nine months to one year in. So sometimes you may actually improve and you won’t even know it because it crept up on you so slowly. Realize also there are some people who don’t respond and that’s a part of it, but also realize that it doesn’t have a lot of side effects. It’s relatively well tolerated. So it’s the sort of drug which is a good drug — in some people, a very good drug — but it is not a cure. And people should not think that it is a cure.
Andrew: OK, now there are monitoring tests you need to do, so for people who may go on this medicine, how are you going to follow them either initially or long term?
Dr. Lynch: There are a few monitoring tests — people’s so-called transaminases go up. This is sort of a general metabolic reactivation of the body. Now it happens to be the transaminases when you check them in blood or markers of the liver. So people are under the impression that the liver is really being affected, but it’s no more affected than anything else. We follow these with blood tests. If they get too high, we hold the drug for a few weeks. It’s a time-limited process where this effect goes away over the first few months.
There are a couple of other lab tests we follow. It raises cholesterol, but we know how to deal with that. There are some other lab tests that you follow, so you have to establish a contact with your doctor, get set up for the monitoring. And this is a true drug; it’s not a vitamin. So expect to be seeing your doctor at least once a year as long as you’re on medicine.
Andrew: OK, and Kendall and Matt, I think you’re both doing physical therapy for your muscles. Is that right?
Andrew: Yeah, and Matt? You too?
Matt: Oh, absolutely. Yes.
Andrew: OK, so that was my question to Dr. Lynch to maintain muscle function beyond this particular medicine, is it physical therapy? What should our patients be doing?
Dr. Lynch: Well, people should be doing whatever, doing as much as they can. The more you do, the more you do, whether that’s riding a recumbent bike across the United States once a year, or doing as much as you can of physical therapy, or for people who have difficulty standing, simply standing to maintain not only your muscles, but also your bones, because you realize your bones are maintained by how much you stand. That’s what people should be doing.
I would note we suspect there is a synergistic effect with Omaveloxolone. I had at least one person in the study who is one of the biggest responders say that he was convinced that the drug might have helped him a little, but it really made his fatigue less, which allowed him to exercise more. And it was actually the exercise that made him better. So that’s another way to view the whole situation. But I think they could be very well be synergistic. So the combination I think will provide the best outcome.
Esther: OK, wow. Well, you know, I think we’ve covered a lot related to what the treatment landscape looks like. It sounds like there’s now one treatment modality that hopefully will be helpful to a broader community as soon as possible.