So much has happened in the XLH world (and rare disorder community generally) during my hiatus month. Hard to know where to start!
Most exciting is that adult patients in England will soon be able to get burosumab, and teens won’t be forced to stop taking it when their growth plates close! Apparently the details of access are still being worked out, so patients may need to wait a few more weeks, but at least the basic approval is in place.
There was also a flurry of XLH-related publication this summer, with about a dozen articles added to PubMed while I was on hiatus. That’s mostly good news, in that it shows the medical community’s interest in our rare disorder, but I’m also concerned about the avalanche of minimally beneficial articles, most of them case studies or literature reviews, rather than fresh insights from original research, which makes it harder for clinicians to find the ones that are actually useful. I’ll have more on that topic soon, but I’m still mulling it over.
We seem to be in a lull with XLH-related research though. The only current opportunity I can see is a quick survey on rare patients’ (and caregivers’) thoughts about participation in research. If you have a few spare minutes, check it out. I did the survey, and it reminded me of a brief live-polling survey we did during the 2018 Symposium on Hypophosphatemia, so I checked the Voice of the Patient report for the results. I believe the breakdown is pretty typical for rare disorders in general (but can’t recall where I heard the comparable percentages). Of the people in the symposium audience, 26% hadn’t volunteered for a clinical trial because they didn’t know about it; 23% weren’t eligible; and 21% had in fact already participated in at least one study. See Appendix 5. That tells me we need to find better ways to let people know about research opportunities. And possibly lobby to include more patients by expanding the inclusion criteria. I still wish we’d been able to convince Ultragenyx to include at least some of the autosomal hypophosphatemia patients (the ones with an FGF23-mediated gene variation, rather than a different cause of the phosphate wasting) in the burosumab trials. I understand why a lot of research studies are reluctant to include patients over 65 (too much risk of being unable to complete the study), but it may lead older patients to believe they can’t benefit from a treatment after it’s approved. Anecdotally, it appears that many older XLHers still don’t know that they can benefit from burosumab.
There is something new on the research horizon, but the clinical trial isn’t recruiting yet, and I don’t have all the details, so it’s too earlier to talk about. Stay tuned though, especially if you are NOT currently on burosumab (or know someone with XLH who’s not on it and might be interested in interventional research).
And that’s enough to ease both me (as the writer) and you (as the reader) into weekly commentary for the chronic hypophosphatemia community.
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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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