I hope you had a lovely, long Labor Day weekend (if you’re in the U.S., and if not, i hope you had a lovely regular weekend)! So in the hope of continuing the good vibes, how about a few tidbits of good news in the hypophosphatemia community today?
First, I’m really impressed by how (relatively) fast Inozyme is working on establishing the safety and effectiveness of its treatment for ENPP1 deficiency (which used to be called Autosomal Hypophosphatemia Type 2, or Generalized Atrial Calcification of Infancy). The company was only founded a few years ago (2015), and it already has a promising treatment for ENPP1 deficiency pretty far along in clinical trials already. They’ve shared data from the adult trial, which has produced positive results so far, and the first patient in the pediatric (infant) trial received the treatment recently. Starting the pediatric study is particularly important in a condition that can be terminal in infancy.
Next, I’ve heard a number of people complain about the user-unfriendliness of clinicaltrials.gov in the past, and apparently similar complaints were heard by the people in charge of the site, because it’s been overhauled. Personally, I never found it hard to use for my simple purposes, so I don’t see much difference, but if you tried to use it before and found it complicated, you may find it easier to use now.
Speaking of clinical trials, there are several interesting ones on the horizon for XLH. What I find to be particularly good news is that they’re focused on real-world issues for patients/care-givers, rather than stumbling around, unaware of what matters to our quality of life. There’s one looking to find out why our muscle function is abnormal — we know it’s definitely dysfunctional, but not why, and I think a lot of patients tend to blame ourselves for running out of energy to do what we want to do, thinking we’re lazy, when there may well be a biochemical explanation for at least some of the dysfunction. (I’ll admit to being more of a couch potato than is good for me, but even that may, in part, be due to a biochemical dysfunction that makes exercise even more unpleasant for us than it has to be.)
I’m also looking forward to seeing the results of a study into “the lived experience of XLH for adolescents at end of skeletal growth.” A number of countries’ prescription-regulating agencies have taken the position that while state-of-the-art treatment is appropriate for kids with XLH, adults don’t need it. As long as we have to live within that framework (i.e., until the data proves it to be wrong), it becomes important to know who falls into the “kid” category in terms of skeletal mineralization, and it’s in patients’ best interest to make the age as high as possible, consistent with science. Historically, doctors thought the bones were essentially finished when the growth plates closed when the patient was in their mid-to-late teens. Now, it’s believed that bones continue to grow and mineralize until sometime in the patient’s twenties. So if you’re basing access to treatment on the foundational time period for bones, you need to know what that time period is! Personally, I think it’s wrong to limit treatment to just the growth phase of XLH, but if we have to live with the persistent myth that bones don’t need good treatment after they’re fully formed/mineralized, the advocates of that myth at least need to be able to identify when the bones fully formed/mineralized, and science can’t do that accurately now.
There’s also research planned for: preventing dental abscesses in XLH kids, better understanding the pros/cons of dental implants for XLHers, and increasing knowledge of the burden of disease and functional impairment in XLH adults, and more work on collecting burden of disease and other data.
I also find it encouraging that researchers continue to write about XLH, and medical journals continue to publish those articles. Even better, there seems to be ongoing interest in the articles. Not long ago, I got an email from the Endo Society Journals saying that they were reprinting our patient-focused article, “Whole-Body, Whole-Life, Whole-Family: Patients’ Perspectives on XLH,” in a special issue on “Bone Research 2023.” It was chosen in part because of the high number of times it had been downloaded (although I’m greedy when it comes to sharing information about XLH and would have liked to see an even higher number, so if you haven’t downloaded/shared it yet, now’s the time!).
So that’s my good XLH news. Do you have any good news for the community? I’d love to hear it and pass it along (or keep it private if you prefer).
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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