We need more oral Fabry disease treatment options that reduce pain
Too many people in our community struggle to find effective pain relief
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Recently, the Fabry disease (FD) community received disappointing news about an investigational oral treatment called venglustat. Results from the PERIDOT Phase 3 trial, which was evaluating venglustat in FD patients, did not meet its primary endpoint of reducing neuropathic and abdominal pain.
Neuropathic pain is one of the earliest and most common symptoms of FD, often continuing throughout adulthood and significantly affecting quality of life. A 2024 article published in the journal Genetics in Medicine Open found that some children with FD experience abdominal pain or burning pain in the feet before the age of 4.
Fabry patients need better pain relief
The PERIDOT trial results are disappointing for two main reasons. First, based on discussions in the FD Facebook group where I serve as moderator for over 5,000 members, current Fabry treatments don’t seem to provide much pain relief. Many people need adjunct medications to manage their pain, but some struggle to find effective ones.
I’ve heard many patients who take an approved enzyme replacement therapy (ERT) or chaperone therapy say that they experience frequent, severe, and debilitating pain or pain crises. From my own experience with Fabry, I know that chronic pain can take the joy out of our lives and make almost everything harder.
I first experienced FD pain at a young age. While many other Fabry patients report burning pain in the hands and feet, my pain has always involved a widespread, flu-like achiness; random, sharp, shooting pains; and stinging pain on my skin.
I’ve tried multiple pain medications, but for me, the side effects were worse than the pain. I can usually tolerate the pain as long as my mind is clear. When I can’t think clearly, I’m not as efficient or effective at work or at home. Tylenol (acetaminophen) is my primary pain reliever. Because it’s metabolized in the liver, I regularly undergo liver function tests. I avoid NSAIDs to protect my already damaged kidneys.
When I’m occasionally desperate for stronger pain medication, I can obtain a prescription from one of my doctors, but I stop taking it as soon as the pain is gone. Years ago, I had a pain crisis over a weekend. I went to the emergency room and experienced the uncomfortable situation of being treated like a drug-seeker, which is unfortunately a fairly common experience for people with FD. I was in agony, writhing in pain for hours, until the ER staff was able to contact my doctor. I was angry about the way I was treated and sympathize with others who have had to endure similar treatment.
When I finally received a dose of Dilaudid (hydromorphone), an opioid analgesic, relief washed over me almost immediately. It helped me better understand how these types of medications can be addictive.
The benefits of oral therapy
Second, having another oral FD treatment option would hugely benefit our community. Currently, the only approved oral treatment for FD is Galafold (migalastat), a chaperone therapy, and it’s available only to 35% to 50% of Fabry patients who have an amenable GLA gene variant. (I am ineligible because I have a deletion mutation.)
However, another oral therapy, lucerastat, is currently under investigation in clinical trials and may be a future option.
I am grateful to have received intravenous ERT for the past 23 years. I believe it has kept my kidneys and lungs stable and helped keep me upright long enough to receive a heart transplant in September 2020. I receive an ERT infusion every 10–11 days to keep my kidneys and lungs from getting worse.
The intravenous therapy is bearable, but not ideal. The nurses do their best, but I’m not always an easy stick. Last Friday, my nurses attempted to start an IV three times, then had to find someone certified to use a portable ultrasound machine. Having an approved oral treatment I can take would be much easier!
Like so many others, I hope for the approval of an oral Fabry disease treatment or a gene therapy that can reduce pain. In the meantime, I encourage others to manage their FD symptoms as best they can and enjoy life to whatever extent possible.
Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Fabry disease.
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