MyTomorrows and CureLGMD2i Partnership to Improve Access to Clinical Trials for Limb Girdle Muscular Dystrophy

Kelly Brazzo

Limb-girdle muscular dystrophies (LGMD) are a group of rare, inherited neuromuscular disorder characterized by progressive weakness and wasting of the muscles, particularly in those around the shoulders and hips. The severity of the disease, the rate of progression, and the age of onset can vary widely depending on the specific subtype of LGMD a person has. In recent years, genetic testing has become the cornerstone of diagnosing LGMD. Previously, diagnosis was based on clinical symptoms, muscle biopsy, and enzyme testing. Now, identifying the specific genetic mutation responsible for the disease helps clinicians provide a precise diagnosis and offer more personalized care.

LGMD has been primarily treated with symptomatic approaches such as physical therapy, occupational therapy, and assistive devices to maintain mobility and independence. Because the disease is ultra-rare, with over 30 subtypes, finding enough patients for clinical trials has been a challenge. To address this issue, CureLGMD2i Foundation, a non-profit organization, and myTomorrows, a global health technology company, teamed up for a new partnership that aims to ease access to clinical trial sites.

Dennis Akkaya

Under the new partnership, CureLGMD2i will leverage myTomorrows’ extensive search engine of ongoing clinical trials to provide patients, caregivers, and healthcare professionals with up-to-date, accessible information about pre-approval treatments that may be relevant to them, as well as support while engaging with these treatments. MyTomorrows' search engine provides patients and physicians with easy access to worldwide LGMD2I/R9 pre-approval treatment options, while expert patient navigators clarify clinical trial terminology and offer ongoing support to help patients make informed treatment decisions.

Following the announcement of this partnership, NeurologyLive^® sat down with Kelly Brazzo, founder of CureLGMDI2i, and Dennis Akkaya, chief commercial officer at myTomorrows, to discuss how this will help the LGMD community. As part of LGMD Awareness Day, held September 30th, the duo provided commentary on some of the challenges with discovering and accessing clinical trials, as well as what the] clinical research looks like for those living with the disease. Above all, the two expressed thoughts on the progress seen in this field and the potential for even greater improvements to quality of life for LGMD.

NeurologyLive: Talk a little bit about what this new partnership entails and how it will help access to clinical trials and drug development for patients with LGMD.

Kelly Brazzo: Sure, I'll go ahead and get started. My name is Kelly Brazzo, and I run a nonprofit organization called CureLGMD2i, which my husband and I founded when our daughter was diagnosed with LGMD2i at the age of two. Back then, we were told, "Well, you can try steroids if you want, but that’s about all we have." We were also told, "If you really want to make a difference, start a foundation and raise funds toward research, because there just isn’t enough happening in the field." So that’s what we did back in 2011. We've come a long way, and we’re really excited.

But right now, the patient community is confused: Which trial is available for me? Do I qualify? How do I get enrolled? Currently, unless you reach out to the companies directly or constantly check clinicaltrials.gov, there’s not a lot of clarity. Many patients turn to Facebook, asking the community, but that information isn’t always accurate. When I met with the MyTomorrows team, we discussed creating a safe space where patients can feel comfortable asking questions and finding out what the available options are and how they can be involved in research.

Dennis Akkaya: My name is Dennis Akkaya, Chief Commercial Officer at myTomorrows, and I’m responsible for developing partnerships with all the stakeholders in the clinical trial ecosystem. One of those stakeholders is biopharma, the companies that are trying to launch clinical trials and recruit patients. But as a company, we also want to serve patients, referring physicians, and trial sites, which all have their unique challenges. We’re trying to support patients when they’re, as Kelly said, a little confused or need some guidance in the early stages of their journey.

We have a team of patient navigators who help patients and their physicians understand what options are available based on their medical information provided i. We want to inform both them and their care team about the options available. If they’re interested and eligible, we help them on their journey to a clinical trial site. It’s not easy to just go to clinicaltrials.gov and figure things out yourself; it’s very complex. Having partnered with Kelly and her foundation, our service supports patients and their physicians with questions and interest in clinical trials.

What have been some previous challenges of getting patients with LGMD into clinical trials?

Kelly Brazzo: As I said, we’ve come a long way. With a disease like LGMD, which is ultra-rare, there’s not a lot of incentive for companies to study it. They often wonder, "Are there enough patients to enroll?" The FDA wants to see large numbers and long study periods to prove drug efficacy, and that can be challenging for rare diseases. Thankfully, several family foundations and private funds have invested in research over the last 20 years, and now we have three clinical trials. That’s a huge gift.

But there are still roadblocks. Patients are asking, "Can I travel to the clinic? Can I afford to take time off work and cover travel expenses? Do I need muscle biopsies or blood draws?" Patients often don’t feel fully educated or comfortable. We’ve achieved a lot, but now we need to get these drugs to the finish line. Advocacy and awareness continue to be crucial.

Dennis and I were discussing earlier that many people get an LGMD diagnosis but haven’t figured out their subtype. With a genetic disease like LGMD, many treatments aim to fix the genetic code that’s broken, so knowing your subtype is essential. It’s important to get involved with a specialist who understands the nuances of your subtype. Based on your disease progression, you need to determine if you qualify for one of these clinical trials. There’s a lot to navigate, and while our social media community is active, especially on Facebook, it’s not always accurate. People are asking, "If you qualify, can I qualify too?" Maybe, but you need to consult clinical specialists, register in patient registries, and get involved in natural history studies. Education is the key to all of this.

What does the clinical pipeline for LGMD look like right now?

Kelly Brazzo: There’sresearch into a small molecule drug , which replaces a sugar molecule affected by the FKRP gene mutation caused by LGMD2I. I’m not a scientist, so I’ll try to explain in layman’s terms. It is in Phase 3 of that trial, and it’s fully enrolled, which is exciting. We’re hoping for some results soon. So far, it’s safe, well-tolerated, and we’re hoping for accelerated approval. Unfortunately, since enrollment is full, anyone wanting to get in can’t right now. But it could open up again later.

There are also gene therapy programs in Phase 2 . Gene therapies once seemed like a far-off, futuristic dream, but now it’s here. However, there are still unknowns. If I qualify for one therapy, could I also qualify for another? What if I have antibody resistance? There are many variables: Am I too far progressed, too old, too young? We need to answer these questions.

And for those who don’t qualify, we’re asking how we can accelerate approval so patients can access these treatments sooner, even if they don’t fit the clinical trial requirements.

What aspects of LGMD need greater awareness and attention from the clinical community?

It’s interesting. LGMD is a family of limb girdle muscular dystrophies, and we now have 30 types, maybe even more. In fact, we’ve run out of letters of the alphabet, so what used to be known as LGMD 2I has now been renamed LGMD R9 because numbers can go into infinity. So, it's been hard for the LGMD 2I community to adjust to this name change. Clinically, it's often referred to as R9, so we’re working on accepting that shift. But, you know, what we talked about earlier is encouraging patients not only to figure out if they have limb girdle, but also what exact subtype they have.

Some patients have LGMD with variants of unknown significance, and it’s important to push clinicians and researchers to identify what those variants mean. Is there a way to figure them out so we can find treatments for those patients, too? It’s also about continuing to work with genetic counselors to unlock the genetic puzzles for those who haven’t yet figured it out. Back when this started, when my daughter was first diagnosed, I think that if we hadn’t started this foundation, we wouldn’t have many of the answers we have now.

There are patients diagnosed with later subtypes with very limited numbers. I met someone with 2T, for example, and they asked, "What do we do?" I said, "Honestly, start a foundation. Raise funds, get more research happening, build a community of patients." You can start a Facebook group for free and find your people. From there, maybe you can start a registry so you can get counted. From that registry, you can collect natural history data to understand the progression of your specific subtype. It seems daunting and unattainable, but it is possible—one step at a time.

That’s a lot of the conversations I’ve been having with other limb girdle subtypes. What I’m grateful for in this community is that we don’t work in silos. We have an amazing LGMD coalition. Our foundation, The Speak Foundation, LGMD 2D Foundation, Coalition to Cure Calpain, which works on LGMD A, the Dion Family Fund working on 2C, and many others—all work together. We just celebrated our first LGMD Day on the Hill last week in advance of LGMD Awareness Day. We shared our story, and patients came from all over the country, working together as a community.

I think we’ll accomplish so much more as a united front—in spreading awareness, advocating for accelerated drug approvals, and supporting other subtypes in building their foundations and communities. Working together will expedite drug development, for sure. That’s something we’re really pushing.

Transcript edited for clarity.