There’s a lot of good information in this new article, similar to articles published by clinicians in other parts of the world, “X-Linked Hypophosphatemia Management in Children: An International2 Working Group Clinical Practice Guideline,” and the authors a veritable who’s who of North American experts in XLH. Still, I hate to say it, but it…
XLH BLOG
Research opportunities
Like last week, I’m archiving material of interest to the XLH community that may disappear in the current destruction of government services. This time, it’s information from clinicaltrials.gov about ongoing research related to chronic hypophosphatemia. I’m giving the governmental link for the trials, for as long as the website is active, but also including a…
Recent journal articles
Since I’m not sure how much longer the National Institutes of Health and its PubMed website will exist, I’m sharing links to recent XLH research here. (I’m also worried about the continued existence of clinicaltrials.gov, but I’ll address that next week.) Some may be duplicates, but in the past I’ve been able to use links…
New clinical guidelines for XLH
There’s a brilliant new journal article, “Clinical practice recommendations for the diagnosis and management of XLH” available now (with patients representing advocacy groups listed among the authors!), and for today, I just want to share the link and encourage you to read it for yourself (and print it to give to your clinician if they…
January action: research recruitment
Recruiting patients, especially those with rare conditions, for clinical trials is really, really hard, and that difficulty can delay research. There are a number of reasons why patients are reluctant to participate, some valid, some myth-based, which need to be overcome. And then there’s the basic challenge that most patients don’t even know the research…
Plans for 2025
I’m going to change things up a bit this year, since “embrace change” is my motto for the year. First, I’m going to have a once-a-month post on the basics of XLH. Some of you may recall the “ABCs of XLH” series I did for the XLH Network, and our understanding of the issues has…
Year-end hiatus
I usually go on hiatus for the holidays, but I’m starting it a little early this year, because I have a lot going on right now with life in general and some writing deadlines (and a new book coming out next Tuesday). I’ll be back on January 8, 2025 (unless there’s something time-sensitive that occurs…
Show me your bobby sox!
Most of “The Transcription Factor BBX Regulates Phosphate Homeostasis” is way beyond my understanding of biochemistry, but I thought we could all use a laugh this week, so it seemed like a good one to share. It’s a serious article, and the researchers are doing really important work — trying to understand why, exactly, bones…
International XLH Day
It’s International XLH Day today, established to raise awareness about the disorder. I always find it a bit challenging to find something to share during awareness campaigns, because I need to be sure that I’m passing on reliable information from reliable sources, so I’m not just muddying the waters more than they already are. As…
More on the diagnostic journey
A few months ago, I wrote about an article on the challenges for patients seeking a timely XLH diagnosis: “The diagnostic odyssey children and adolescents with X-linked hypophosphataemia.” The article was intended to show how data could help clinicians predict the diagnosis based on certain symptoms, but in my reading, it just showed how messy…