There’s a possible new treatment for XLH just starting in the FDA process, which you can read about here. But first, to understand the article, we need to learn the basics of some new terminology. Ten years ago, we had to learn what a monoclonal antibody was, in order to understand how burosumab works. Now,…
Author: giniajo@gmail.com
Whole-family disorder
Remember the patient-focused, patient-authored opinion piece about how XLH is a whole-body, whole-life, whole-family disorder? Well, there’s now some data to support the claim to the whole-family element. “The Burden of Adult X-Linked Hypophosphatemia on Carers and Family Members: A Mixed-Methods Study” was co-authored by an XLH patient and founder of XLH-UK, Oliver Gardiner. The…
Burosumab v. phos/calcitriol
Everyone with real insight into XLH, like patients, caregivers, and expert clinicians who have seen more than a handful of us, has known for years that burosumab is a huge improvement over the old phosphorus/calcitriol treatment. But there are still too many people in health care who don’t accept that conclusion yet, so it’s useful…
Healthcare resource use
More research to share! It’s been a busy few months of XLH-related publication. “A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia,” is, as the title states, a review of published articles about how XLHers use healthcare resources (pharmacological products, surgery, dental treatment, hearing treatment, and secondary symptoms’ treatment, e.g.,…
Niche research
I mostly bring you chronic hypophosphatemia research that’s fairly broadly applicable to our community, but this week I have some resources that may be useful for sub-groups of our community. ENPP1 Deficiency. The first is some natural-history-type data on chronic hypophosphatemia patients whose symptoms are caused by ENPP1 deficiency. You may not recognize that label,…
Blood pressure research
There’s a new article about blood pressure in pediatric XLHers, “Office Blood Pressure and Obesity in Children with XLH.” The article starts off badly by calling XLH “the most common inherited form of hypophosphatemic rickets.” I’m cutting the authors a little slack, since they’re focused specifically on pediatrics (only kids can get rickets), but it’s…
Seventh anniversary
This week is the seventh anniversary of the approval of burosumab to treat XLH. That means I’ll have been on it for nine years in July. It’s been life-changing for me, but I’m not in the mood to celebrate. And all I can think about is that only about five percent of rare diseases have…
New research on pain
There are two new articles on pain in the XLH community. The first is “Qualitative analysis of pain impact in adult patients with XLH.” The conclusions aren’t surprising to patients: “adults with XLH experience chronic pain that affects all aspects of life. Individuals with XLH face challenges when managing their pain due to lack of…
Listen to patients, part infinity
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…
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…