.

FA is a rare neuromuscular condition that mainly affects the nervous system. Joe contributed to the clinical trial for SKYCLARYS®, the first FDA-approved drug therapy to slow down FA progression. He is an active member of the FA community and also works within the life sciences industry, developing language programs for global life science organizations at Welocalize.

Through Joe’s participation in the clinical trial, we discuss the complexities of securing FDA approval for a drug or device in the US and obtaining EMA approval in Europe. We explore the importance of patient advocacy groups (PAGs) and the critical role of patient data and language, especially in rare conditions like FA. As a patient, Joe shares his personal account of the pivotal role of clinical trials.

What to Expect

1. What it’s like to live with a rare condition and insight into the importance and complexities of clinical trials and FDA/EMA drug approval processes
2. Challenges in recruitment of patients for rare disease clinical studies and ways to address some of these challenges
3. The significance of global patient advocacy groups (PAGs) in medical research and treatment accessibility
4. The importance of global patient data in clinical trials for drugs to be licensed in wider communities.

Further Reading

First Medication to Treat Friedreich’s ataxia Approved on Rare Disease Day!

Friedreich Ataxia Research Alliance

Biogen to Acquire Reata Pharmaceuticals

Biogen Receive European Commission Approval for SKYCLARYS the First Medication to Treat Friedreich’s ataxia

---

TRANSCRIPT

Louise Law

Hi, everyone, and welcome to the Welocalize podcast, where we talk about all things related to multilingual content, translation, localization, and the technology that helps this process. My name is Louise Law, your host, and today I’m talking to Joe Tyler, who has not only participated in a groundbreaking clinical trial but also works within the life sciences industry, developing language programs for Welocalize clients. In this podcast, we’re going to explore Joe’s experience with Friedreich ataxia, which is also known as FA. This is a rare neuromuscular condition, and we’re going to talk about Joe’s experience and his involvement in the clinical trial for a new drug, which was the first-ever therapy aimed at slowing down FA progression. So Joe, hi, and welcome to the Welocalize podcast.

Joe Tyler

Hi, thanks, Louise.

Louise Law

We’re talking to you in Missouri. That’s correct. Isn’t it?

Joe Tyler

Yeah, that is correct. I’m in St. Louis, MO, about a mile away from the Gateway Arch. That’s what we’re known for and the Cardinals.

Louise Law

So Joe, could you tell the listeners a little bit about your experience living with FA, which is Friedreich ataxia, and your decision and your experience participating in this clinical trial?

Joe Tyler

I’ll start out with what is FA.  Friedrichs ataxia (FA) is a debilitating, life-shortening, degenerative neuromuscular disorder that affects about one in 50,000 people in the US. That number correlates with Europe, South America, and India. It’s estimated that there are about 25,000 affected individuals worldwide with FA.

Louise Law

It’s quite rare then, Joe. That’s right?

Joe Tyler

Yeah. Yeah, very, very rare. You can say I’m lucky in that sense, right? Being diagnosed with a rare disease. There are downsides to it, so I have what’s called late-onset FA. So FA, for me, did not show symptoms until my early 20s. I am currently 42. In my early 20s, I started to develop a loss of coordination. Just sort of an imbalance started to find out why. So, I went to multiple neurologists in my 20s and was misdiagnosed quite a few times. And then finally, when I was 31, I was officially diagnosed at Washington University in Saint Louis with FA. The doctor actually found it just by looking at my eye. Seeing astigmatism in my eyes. And then we did a lot of, you know, nerve conductive studies, which aren’t very fun. It’s where they put a needle inside your calf and, like, shock your calf muscles. When they sent my DNA off for testing, they discovered the genetic mutation within my DNA, which causes FA. So again, I have mentioned I have late onset, that’s actually rare. I want to say that about 20% of FA patients have late onset, and 80% of the majority of FA patients show signs very early on in life. It affects children, which is probably the most devastating part of the disease, where symptoms show up when they’re 5, 6, 7, and by the time the children are, you know, 12, they’re in a wheelchair. Then, by 16, they’re in a power chair, so.

Louise Law

That has obviously led you to take part in a clinical trial to help anybody experiencing FA and to help anyone reduce the effects of it. That’s right?

Joe Tyler

After I was diagnosed, my wife and I, we don’t have kids. So, one way I can give back to the community is by participating in clinical trials, whether that be, you know, clinical outcome measures or drug safety trials. Immediately after I was diagnosed, I participated in quite a few trials.

Louise Law

So that led to you taking part in the clinical trial for the drug that has recently been licensed called SKYCLARYS®, along with you and the other members of the patient advocacy group which is a PAG for people who are experiencing FA. Say so, could you talk to us a little bit about that journey of taking part in the trial and how that eventually led to the drug becoming licensed? I know it’s so important, super important, and the importance of patient data for global clinical trials.

Joe Tyler

The super cool story. So when I was diagnosed with FA, actually up until last year when, say, SKYCLARYS® was approved, there were no approved therapies or a cure for FA. It’s tough being diagnosed with something that is degenerative, and there aren’t any approved therapies. That’s why I participated in the clinical trial.

I participated in a few trials at UCLA and CHOP in Philadelphia – Children’s Hospital of Philadelphia. And one drug that I participated in 2017 at UCLA, which was developed by Reata Pharmaceuticals. And I’m going to butcher the name of it – Omaveloxolon. It’s hard to even say, but now that it’s approved and look at that story, it’s called SKYCLARYS®. So, in 2017, I participated in the phase two study of Moxie, we called it. I was on drug for I want to say three months, then off drug and it was very safe. It seemed effective, but because it was in phase two and the study designers did find safety in the drug, the FDA approved an open-label extension. About 100 of us that were participating in the drug trial went on the open-label extension for a number of years. So, within FA is the PAG, the patient advocacy group that you’d mentioned earlier. That’s to cure FA. You can find that at curefa.org. And the patient community and the researchers are all very, very tight. It’s very tight knit group. We all know each other. We all talk. So all of us who are on the open-label extension, were feeling better. We’re feeling improvement. We’re looking at friends and brothers and sisters that have FA that are not on the open label extension and we’re not getting as worse as they are. So we all kind of thought, hey, this might be the first approved therapy for FA, and the FDA denied the approval a couple times, primarily because of the limited amount of patient data.

Louise Law

There was data from 100 patients then.

Joe Tyler

Yeah. Yeah, about 100 patients. And that was tough to take for the FA community because we all saw improvements using the drug. We all saw the safety of your drug, so we just thought it should be approved. And then COVID happened right in 2020-21 and that delayed the processing even more because the FDA had pushed a lot of the approvals for some of the other diseases down the line and moved COVID right up.

And then late 2022, the POG and the FA community penned a letter to the FDA. So, the drug, Moxie, was developed by a company called Reata Pharmaceuticals, and so Reata and Cure FA and all the patients sent a letter to the FDA with 74,000 signatures of patients, families, friends, researchers, scientists requesting that Reata submit a NDA, new drug application on urgent basis and the FDA considers approval of the NDA. OK, I’m getting a little choked up. It’s pretty emotional thinking that 75,000 of your brothers and sisters are there pushing for a therapy. That was 2022 when that letter went out. And the FDA finally approved SKYCLARYS® in early 2023.

Louise Law

I mean, that’s an incredible achievement from the community, isn’t it? And like the power of the crowd that a lot of people wouldn’t realize that some of the activities and getting approval.

Joe Tyler

Yes, there was a ton of work on the back end that I’m glossing over from Reata, from Cure FA, from advocates, legislators in the US Congress, but at the end of the day, we achieved approval.

Louise Law

So the drug SKYCLARYS®, was FDA approved in 2023. Joe, is that correct?

Joe Tyler

Yeah, that’s correct, Louise. So, in I want to say January of 2023, the FDA granted approval to Moxie again, now called SKYCLARYS®, for Reata Pharmaceuticals. That was a huge milestone for the FA community, mainly because it shined a light on the FA community by showing everyone that hey, here’s the first approved therapy. We had an article on FA in the Wall Street Journal, you know, front page News. So, for a rare disease, news is really good.

Louise Law

What incredible strength and courage from the FA community to kind of push that. That was primarily obviously FDA-approved for distribution in the US, Joe, is that right?

Joe Tyler

Yeah, that’s a great point. So, the FDA approved it in the US in early 2023. At that point, Biogen purchased Reata Pharmaceuticals. Biogen, is a client that we work with here at Welocalize. So that really helped fast track approval in the EMA which Reata had approved or got SKYCLARYS^® approved in the EMA in February of 2024 this year. Having that larger pharmaceutical partner is going to help get SKYCLARYS® approved in India, South America, and some of the other areas of the world where FA patients live.

Louise Law

That obviously highlights the importance of a drug not just being approved in kind of 1 country or, you know, but also to make sure that the FA community benefits on a worldwide basis as well, which as I can imagine is a challenge when you’ve got a relatively rare condition whereas you said before, some of the patient data will be limited because you just don’t have the volume of people who can take part in a trial.

Joe Tyler

You are kind of hitting on the point as to why I do what I do, why I love working with, you know, CRO’s and pharmaceutical firms within the localization world and what we do here at Welocalize is helping trials become more global. So, localized consent forms, study protocols. It’s fun for me because as a patient of a rare disease, I see the true impact of having a larger patient population within your clinical trials. It’s obviously going to help get drugs approved, but you’re going to reach larger patient sets. Which every trial should at least try to do.

Louise Law

I’d like to just reiterate to the listeners as well that obviously over the few years you’ve taken part in these clinical trials, whilst at the same time you still actively very, very much work within the Life Sciences organization as you said before with a lot of pharma companies CRO’s you’re working with here at Welocalize, you develop language programs for a lot of these big life Sciences organizations. So, it must be invaluable to be on both sides of the fence to kind of really know how all these trials operate. Some of the challenges as well as the kind of somebody that’s working with these organizations.

Joe Tyler

Yeah, it’s definitely challenging, but I get the advantage of having the patient perspective when helping our clients put language programs together. The advantage of not only seeing the trial be localized, helping the client localize that trial, but also the advantage of looking at it from a patient’s perspective. Because I do participate in some of the clinical trials on my own, it’s really gratifying and cool to see. And that’s why I love what I do because obviously, my role in participating in the Moxie trial and seeing the FDA deny the drug, even though I could feel that it’s making me feel better. I could talk to the patients in the trial and see that it’s making them feel better. But then the thing they see the FDA wants, you know, more data. That’s frustrating. I understand that perspective from the FDA, like they want to make sure the drug has efficacy and safety. But from a patient perspective like you want to get that drug approved because it feels so good.

Louise Law

It’s personal, isn’t it? You’re seeing the benefits of that?

Joe Tyler

It’s personal, it’s emotional, and then when you’re developing language programs for Pharma and CRO clients, it’s incredibly rewarding because you understand that emotional risk that you know the highs and lows of getting drugs denied getting drugs approved.

Louise Law

And the importance of language as well, because there are these drugs getting approval across borders as the element of language communication, and the translation become an important part of that overall process.

Joe Tyler

Yeah. Just I mean, think about if Reata could have done the trial in Italy, Greece, France, and Spain and localized all that content, we may have had a larger patient population through localization that obviously didn’t occur. A lot of times there are cost barriers for smaller pharmaceutical firms, but yeah, that’s kind of the rewarding part about what we do here at Welocalize is helping those firms get drugs into the next phase.

Louise Law

I think just as we chatted Joe over the past few days, it’s been really good to hear the significant role of the FA Community and the fact that it’s very much a strength and that having those patient advocacy groups, not just in your area, but all over the world, it sounds like a really good thing.

Joe Tyler

Yeah, that’s a great point. The impact of PAGs, patient advocacy groups partnering with pharmaceutical firms greatly enhances the ability for trials to occur, for trials to move forward. So, I’d mentioned that letter to the FDA and Reata signed by the FA patient population with 75,000 signatures. There are other patient advocacy groups, a very well known like the Michael J. Fox Foundation for Parkinson’s. So, these groups really work directly with the patients to develop a voice, get their information out in public, raise awareness, and raise funds for research, which is a vital part of getting drug therapies approved. That’s what these PAGs do. As a patient, we can’t thank them enough. They work tirelessly, pushing for funds for research.

Louise Law

What’s next, presumably you continue to be active in with the FA community and continue to do great work.

Joe Tyler

I’m among the leadership team of the FARA Ambassador program and what that program is, is really a program for FA patients, but we’ve got about 60 to 70 folks all over the world that are in the FARA Ambassador program and we assist them with getting ready for speaking publicly about FA. We assist them with writing letters to thank researchers. We get together on a monthly basis just to talk about news events within FA. It’s a really, really cool unique program within the PAG where we help patients have a voice. And also, just you know, helping spread that awareness across the globe. So, one thing we did within the FARA Ambassador program was start an international group. So, we meet monthly at about noon here in the US with international brothers and sisters – a lot are over in Europe and India. We all join the call and just talk about all things FA.

Louise Law

Well, Joe, thank you so much for joining us today. I’ve really enjoyed speaking with you and hearing your story. It’s been absolutely fascinating. It’s an amazing story – well done. For the listeners, there are links on the articles that Joe’s mentioned in the groups on the Welocalize website, on the blog page, if you want to find out a little bit more information. But Joe, thank you again for being an excellent podcast guest.

Joe Tyler

Thanks, Louise. Hopefully, we’ll see you soon.

Louise Law

Definitely, definitely. Thank you.