The Thrill of Victory and the Agony of Defeat: Recent Developments in ALS Research

I travel a lot to cities around the country to talk to scientists about ALS. Some of the things they say about C9orf72 being the “low-hanging fruit” or the “key to the cure” make me really hopeful for the future of my kids and for my cousins. Two years ago, Qalsody (also called Toferson), a treatment for the SOD1 gene that causes ALS, began to show promise in patients with active symptoms. In the last year, some SOD1 carriers began to recover some function. The words “ALS reversals” were on everyone’s tongues. The medical community celebrated the first ever cure for a genetic form of ALS. This win makes me all the more optimistic for a future where nobody will have to suffer with ALS.

Another wonderful thing that happened in the world of ALS was the 2021 passage of the Act for ALS bill. When then Biden signed it into law, the bill earmarked millions of dollars for ALS research over five years. No doubt that Qalsody couldn’t have been developed without those important funds. In fact, the National Academies of Science, Engineering, and Medicine’s report, Living with ALS, which I was proud to collaborate on for 18 months, was partially funded by the Act for ALS. In June of 2024, when we handed it over to Congress to implement policies around ALS care, caregivers, veterans, and gene carriers, we knew that the Act for ALS was working! The collaboration between patients, doctors, pharma, bioethics folks, and nurses proved that working together can solve some of our most puzzling issues around ALS.

Despite these promising developments in ALS policy and medicine, it seems like patients and researchers are doing a “bunny-hop,” where we take two steps forward and one step back. Although Toferson was able to treat – and maybe cure – SOD1, that particular gene only makes up a very small portion of genetic ALS cases. The mutation that my family carries, C9orf72, comprises about 60% of familial cases, but the kind of autosomal dominant gene is a repeat expansion. Without going into the science weeds of this, let’s just say it’s a much tougher nut to crack than SOD1, which is a misfolded protein. Several trials of new drugs for C9 have failed over the last few years, and although a failed trial still teaches us something, it’s dispiriting for C9orf72 gene mutation carriers. 

That’s not the only agonizing blow for patients. The current administration, which seems hell-bent on defunding important medical research, has cut support to universities which employ a DEI approach to hiring. That means that many of the universities where there is a robust, multiracial student body and faculty don’t receive federal funding for research on programs that target genetic forms of ALS. Even the NIH is feeling it, and that’s the crowing blow for ALS patients who are losing access to new drugs. 

On a personal note, I’ve already seen research centers at universities pull experimental drugs that ALS patients are trying. Last month, a dear friend of mine was kicked out of a trial because the funding was cut back by the Trump administration. She was early in her disease progression, and her ALS was being kept at bay by an experimental new drug. She only lost function in one foot. Now that she’s lost access to that drug, her disease progression will speed up. I’m afraid I’ll lose my friend to the same disease that killed my grandfather and my mom. 

The Act for ALS is up for renewal, and 2026 is the pivotal year when the administration decides whether to do the right thing or to kill off as many ALS patients as possible. It’s terrifying for me, a carrier of a fatal gene that may become an active disease, to think that I’m putting my heath in the hands of President Trump and his minions. 

May is ALS Awareness Month, and I recently attended a summit in DC, where I was trained by I Am ALS and the ALS Network on how to talk to my State Representatives and Senators about my concerns. Over the course of one afternoon, I spoke with four high-ranking officials about my family’s story. I talked with them about fully funding the Act for ALS for the upcoming fiscal year, but I also broached subjects like genetic nondiscrimination and caregivers’ rights. This kind of engagement with policymakers was new ground for me, but it was heady to think that something I might have said may make a difference for people with ALS and for those at genetic risk.

Showing up to spread my story in other cities pays off for me. Not only do I influence policy, but I engage with other stakeholders. I meet researchers who can collaborate with our organization End the Legacy. I meet in-person, for the first time, with caregiver friends I’ve made online. And I get the opportunity to visit ALS friends who I may never see again. I realize that my anxiety about not finding a cure is one that I share with hundreds of other people. I’m convinced that there’s nobody fiercer about advocacy than an ALS patient. I take my cues from them. 

My ALS community has taught me how to keep hope alive. They don’t give up when they lose functions like walking, eating, or breathing. Their internal flame to persevere comes from the belief that if they stay alive long enough, they may see a cure. So, a few years ago, when I read that a European company, Intravacc, was working on an mRNA vaccine to prevent C9orf72, I got excited. Human trials should begin in late 2025, and I truly believe that if they can fix people’s genes, they can solve my family’s disease. I also think that most ALS has a genetic component, so the SOD1 drug, Qalsody, does bode well for the rest of us. It bodes well for the entire ALS community.