Beyond the Friedreich's Ataxia Basics
Segment 5: Q&A and wrap-up
In the final segment, our panelists answer some questions submitted from the audience and give some final thoughts on their hopes for the future.
Neurologist and FA expert David Lynch, MD, PhD, talks about upcoming clinical trials and what’s in the pipeline, while FA patients Matt Lafleur and Kendall Harvey give some advice on what the priorities are for living with FA.
After some final inspirational words to caregivers in which Dr. Lynch discusses the importance of life outside FA and some advice for a newly diagnosed 18-year-old, Matt and Kendall give Dr. Lynch his marching orders.
Watch all the video highlights from the “Beyond the Friedreich’s Ataxia Basics” webinar here.
Andrew: All right, so let’s move on to our Q&A session. So, many of you sent in questions when you registered, and not surprisingly, some people asked exactly the same question. So we’re going to get to a few. Dr. Lynch, so a key question, because we have parents of younger children affected by FA — after all, Matt was diagnosed in fourth grade. When will Skyclarys be available for people under the age of 16, and are there clinical trials that are planned?
Dr. Lynch: Really good question. … Oh, you want me to answer it?
Andrew: Yes I do.
Esther: Yes, please. [laughter]
- Read more
- Dr. Lynch: So a couple of things: It is approved only 16 and older. There is one biological point that I need to make. Within the clinical trial, the appropriate dose of omaveloxolone is very tight at the 150 mg, which Kendall tells us she takes, you see, on average, maximum benefit. If you cut that amount in half, you lose half the benefit. If you double the dose, the benefit went entirely away.
We do not know the dose in a person under 16, and I would hesitate to predict it. So it’s something where I would not suggest that people seek off-label prescriptions, and I do not write them myself, because it is likely not to be — you’re likely to be at the wrong dose. So we have to go back and figure out a dose in order to move it to children.
There is an announced single-dose study on clinical trials.gov, which when you read between the lines, is clearly a dose-finding study. It’s a single-site study. I can’t comment any more because it is not approved by the Institutional Review Board at this point, but that tells you that they are moving in that direction, and once the dose is established, then people will move to trials in children if they are required. There are some paradigms where efficacy trials in children may not be required, but it’s uncertain how that will proceed. So yes, it’s coming. When is it coming? I’ll go back to my mute on that.
Esther: OK, but it’s coming. All right, so we had another question come in. And from reading the question, it’s definitely from a caregiver or a care partner. For a rare disease with only one treatment, there are so many to-do’s. It feels like as a caregiver, the list of things I need to do just gets longer and we are changing something in the person I loves routine constantly. So out of all the to-do’s out there, which ones are “do right away,” which ones can wait, and which ones don’t even matter. And I have a feeling that Matt and Kendall, you each might have some thoughts about that. So Kendall, maybe you can talk about that with, you know, your husband and his long list of things he has to do, which are the ones that have to get done and which ones can wait?
Kendall: Sure. Well, with the nature of Friedreich’s ataxia being a progressive and degenerative disease, yes, the needs are constantly changing, and something I was able to do yesterday, I might not be able to do today and I might be able to do tomorrow. I never know what body I’m going to wake up in, so I think that just. a complete trust in your caregivers is important.
And I mean just a daily dose of humble to ask for and accept help and then to try to not let offered help that you don’t need offend you — key word being “try,” because there’s lots of times when strangers or acquaintances will offer to help. And I think like, man, do I really look that incapable, that someone I don’t know is wanting to step in. And I try to give people the benefit of the doubt and that they’re just trying to help me because they’re a good person, and it’s just constantly humbling yourself and asking for and accepting help.
Esther: Yeah. Matt, any thoughts about the to-dos that are most important for a care partner or a caregiver to remember to do to support you?
Matt: Yeah, sure. In the life of FA, I would divide the needs between what is acute and what is maintenance. So for acute need, what’s going on with you right now? Is your heart acting up right now? Can you move around your house? Can you get in bed? Can you do things in the bathroom? Can you function on a day-to-day basis?
And those acute needs would, I think, take the priority, and everything else is kind of maintenance phase; that would be secondary. That would be things like getting into a physical therapy routine. That would be things like, I go once a year to get my heart checked out by a cardiologist. I think that’s important to maintain upkeep. So things that that I focus on, what’s acute in the patient’s life right now, what can they not get by without right now? What’s urgent right now.
And other things — maintenance is still important, super important; I don’t want to let that seem flippant, but those are things that aren’t quite acute. So I don’t know if Dr. Lynch has, you know, better thoughts than I do about that. But that’s my way of separating what needs to be done right now and what can wait.
Andrew: Dr. Lynch, your comment on …
Dr. Lynch: Sure. So I agree with what Matt said, but I took this question a little differently, thinking that the person, the caregiver who’s writing this is probably a parent maybe, or a spouse, the most important thing to do is take care of yourself. Be sure that you’re in good mental health so you can help the person you’re giving care for.
The second thing I’d have you do is the most important thing to do are those things you do that have nothing to do with Friedreich’s ataxia, that you live life and the FA becomes something that you deal with when you have to, and we have to take care of things. And most of life, as Matt said earlier when he was talking, shouldn’t be about Friedreich’s ataxia; it should be about the saints and how well they’re playing, to pick on Matt there, or whether the Patriots are playing well since they’re not doing terribly well this year, and I’m happy about that. But, you know, things like that. I know the Hornets are playing well; I’m with you there.
So those are the things. Take care of yourself. Let the doctors manage the medical details. That’s our job. And if you don’t have a doctor who’s willing to do that, get rid of them. And be a caregiver and an interactor, not as much as you are a medical individual. I’ll stop there.
Andrew: Well said.
Esther: Thank you.
Andrew: So that relates to just one other question and I’ll have you discuss it, Dr. Lynch. And that is what advice do you have for a recently diagnosed 18-year-old when trying to plan for the future, particularly about work and school?
Dr. Lynch: So going back to one thing Matt said about going to college: If you’re going to college, visit your college, visit the disabilities office and see what they have. And if they don’t treat you very well, even if that college is the University of Pennsylvania, it’s not a very good college for you. You know, I didn’t go to Penn just for the record. So learn about the colleges you want to go to. Think about what you wanted to do with your life beforehand and see. Do you have to make any modifications? I’m predicting if you’re being diagnosed at 18, you probably won’t for quite a long time and refine those things and think about them and what you really enjoy in life so that you can think about in the end, how FA is going to be as little a part of your life as you can, and to choose careers and things where you get the most enjoyment and a sense of the most rewarding career and the most rewarding life.
Remember I listed all those things that people do. There are lots of things that people can do, and I think just about every job can can be accomplished in some way, or some get involved in some way. So you just have to think about those things and talk to your physicians and talk to your friends on what and figure out what a good course is.
Andrew: Dr. Lynch, we talked a lot about the newly approved treatment, but Matt talked about, you know, the hope, and Kendall too, that this brings for the community. Andrew: Can you just take a second and give us a window into what’s in the pipeline, if you will, so that other treatments may follow.
Dr. Lynch: Sure, there are, right now, I mean, the Friedreich’s Ataxia Research Alliance has been very good in bringing pharmaceutical companies into the FA world in a way that you do not see in other rare disease. I give all the credit to FARA and the way they’ve set up their programs through the years.
So we have, at this moment, a couple of open clinical trials in the United States on mitochondrial approaches and three different lines of approach of what we’ll call for attacks and restoration, that is, treating the core cause of the disease rather than downstream events. Now, that second approach is a lot harder than working at downstream events, and it carries an amount of risk, but you simply move forward to do them. There are — at this particular moment, we are lacking as many open clinical trials as one would think, but there are others opening over the course of the next year.
Clinical trials are not for everyone. They require commitment. Think about participating, and if you don’t want to participate in a clinical trial, it’s just not your way, it’s a rough visit schedule and things like that, think about all the other studies that are out there that set up the other tools we have for clinical trials that allow us to move forward. Even observational studies help us get across the finish line.
Esther: OK, thank you. And, you know, we’re about to wrap up for the day, and what we wanted to do is ask our panelists for some final thoughts on the progress that’s being made, which, you know, Dr. Lynch, you really just synopsized that for us and, you know, the management of this disease. So maybe I’ll go on to ask Kendall, what are some of your hopes for the future in terms of FA treatment and care? And then we’ll have Matt chime in.
Kendall: Sure. I think when I was rambling on about my experience with the drug, I kind of touched on this. but I guess just overall, I’m encouraged. I’m hopeful. I remain optimistic, but I remain desperate for that next, the next ingredient in our curative cocktail because we aren’t there yet.
Andrew: And Matt, how about you, a final thought?
Matt: Absolutely. I want to echo that and say, it took until 2023 that we went from zero to one treatment, and I’m looking forward to there being many more in the future. FA is really hard. It’s really challenging. So I want to give voice to that to let people know that it is really overcoming at times, but it doesn’t need to defeat you.
There are people on this call — there’s a mother living in Texas who has a great life. There are lawyers, managers, engineers. So there are ways to go about even with FA and be a happy, successful person. And that’s one major takeaway that now with the approval of this drug, we have hope. And there’s only going to be more hope in the future.
Andrew: Right. And we hope we’ll be doing future webinars and programming to bring you that news as, as it is in the newsletter as well. So I hope everybody’s connected. Kelly, did you have any final comment?
Kelly: No, I mean, I would only say, you know, just try to put a plan in place. And I always tell our families, once the plan is there, you can also get rid of it. So just put something down and if it changes, that’s even better. But definitely try to put something in place.
Andrew: Thank you for that. Dr. Lynch, we’re going to give you the last word because you see patients from all over. What’s the sort of last statement you wanted to leave us with?
Dr. Lynch: Sounds like Matt and Kendall are giving me marching orders, so I think that’s what we have.
Esther: There you go.
Andrew: Well, all right. Godspeed to you with that, of course.
- Rare Disease Day in a leap year keeps focus on the rarest of the rare
- Handling my life when it’s not easy being me
- Braving the new world of 2024 for Friedreich’s ataxia treatment
- Nomlabofusp (CTI-1601) at high dose safely raises frataxin levels
- Immune protein activator honokiol restores mitochondria in FA cells