A fellow XLHer recently bemoaned the lack of good news in the XLH community, and I don’t think it was just winter doldrums speaking. Because I tried to think of some good news and couldn’t! At least not at the time.
It was a few weeks ago now, and once I was looking for some good news to brighten up a drear February, I did find some. Caveat: they’re mostly long-term, so you may need some patience to see them play out.
First, some news that’s both long-term and short: The Scottish Medicines Consortium, that decides whether patients there can access treatments (cost/benefit analysis, rather than safety/effectiveness) approved access to burosumab for adults in Scotland! It’s only a preliminary decision, allowing access for three years while Kyowa Kirin gathers more data, but it’s a good first step. Patient advocates in the UK will need to work hard between now and the review in three years to make sure the decision becomes permanent!
Next, I’m cautiously optimistic about Kyowa Kirin’s take-over of the marketing and distribution of burosumab. (NOTE: If you have an Ultracare representative who helps with your access, you should have received a letter to transfer your account to Kyowa Kirin. If not, and you wish to continue to have similar assistance from Kyowa Kirin, contact your Ultracare rep NOW, because there’s a limited window of opportunity for the transfer.) This is just my personal impression, but it’s felt for a while now that Ultragenyx was bored with burosumab and had moved on to other things (mostly to do with gene therapy but unfortunately not gene therapy for XLH). Understandable, but not good for the patient community, where it feels like the message is still not getting out that XLH is a progressive disorder, and burosumab is the only treatment that has the potential for slowing that progression in adults. Kyowa Kirin, on the other hand, is new to both North America in general, and responsibility for burosumab in particular, so I’d expect it to be brimming with enthusiasm. I also find it encouraging that, despite being new to the North American market, they have global connections (Kyowa Kirin’s other iterations began in Japan, and are active in Europe), and those connections have done some great work with burosumab in those other territories, so presumably the local Kyowa Kirin can learn from the other iterations.
Third, we’re coming up on the fifth anniversary of the approval of burosumab in the United States, which means we’re about halfway through the highly anticipated long-term data collection on the benefits of burosumab treatment. Journal articles about XLH are almost guaranteed to have a sentence in them along the lines of “Burosumab treatment looks promising, but we won’t know for sure about the benefits of burosumab until we have long-term data.” There are several benefits that patients, anecdotally, attribute to burosumab now, but our subjective experiences aren’t enough to convince scientists without formally collected data to support us. One thing that I’m convinced of is that burosumab treatment of adults slows the progression of enthesopathy, and if that’s true, it’s a really strong argument for continuing adult treatment as the default, instead of only after the enthesopathy begins (and is irreversible). Enthesopathy progression is extremely slow and is hard to quantify, especially over periods of a year or two, but ten years of data ought to prove (or, if I’m wrong, disprove) the benefits of burosumab for preventing/slowing enthesopathy. When I signed up for this data collection, I remember thinking that ten years sounded like forever, but here we are, halfway there!
Fourth, and this is a bit general, which makes it hard to get too excited about, but there is a LOT of research happening around XLH and FGF23 and ENPP1, including at least one foray into the potential of gene therapy. The XLH community will likely benefit from having long-since identified the gene that causes the condition, since understanding the responsible gene makes it a good candidate for gene therapy. (But I’d still like to see a breakthrough in understanding how that gene triggers the overproduction of FGF23, so gene therapy can work at the bone level, before the excessive FGF23 is produced and travels to the kidneys.)
Fifth, I’m really excited about the explosion of hypophosphatemia-focused patient advocacy around the globe. When I first joined the XLH community, there was exactly one patient group, and the only work it could do was essentially to enable conversations among members, share some XLH-related life hacks. and offer a shoulder to cry on. Today, we’ve got at least a dozen patient groups around the globe, each with both general expertise about the patient experience, and more specific information about navigating a given country’s health care system. We’ve got patient advocates interacting with legislators, testifying in front of government agencies about access to best treatment, and educating clinicians. I’m still waiting for the groups to do more when it comes to participating in research (both financially and as a consultant), but we’ll get there before long, now that the infrastructure has been started.
Sixth, not specific to our community, but likely benefiting us: there’s a growing movement to establish rare disease advisory boards in each of the U.S. states to advise the respective legislatures. It’s still early days, and it will take a lot of hard work to get the legislatures to really listen, but it’s a good first step.
And finally, if you’d like to celebrate a little personal good news with me, I’ve got a (fiction) book coming out this fall, the first of three books in The Bourbon B&B Mysteries, featuring three sisters operating a B&B in the bourbon-producing corner of Kentucky and solving murders. To make this into good news for you, I’ve set the first book in my Helen Binney Mysteries to free (digital format, Amazon only) for the next two days, so if you’ve always wondered about my fiction, you can download A DOSE OF DEATH for free today and tomorrow. The Helen Binney series features an amateur sleuth who has a different chronic condition than XLH, but I think you’ll recognize her struggles as having been influenced by my own health issues.
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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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