Something I learned from the FDA’s listening session on clinical trials for gene therapy (which you can watch here), is that there are some unique considerations for whether to participate in this kind of trial, especially in the rare-disorder setting. There are risks and benefits to the patient in any clinical trial. The most serious…
Author: giniajo@gmail.com
Rare Disease Month 2023
It’s that time — the month leading up to Rare Disease Day. It always falls on the day in February closest to the rarest day on the calendar, February 29. Next year is likely to be a really big celebration, since there will actually be a February 29th (Leap Year Day), but this year it’s…
Restless leg syndrome
Restless Legs Syndrome (RLS) is a real condition, and a known potential side-effect of burosumab (and can also occur in XLH patients who are not on burosumab). I’d love to know if other chronic hypophosphatemias NOT treated by burosumab are also prone to the condition, but I’m not aware of any research into the question….
Gene therapy trials & FDA
The FDA held a listening session recently to hear what patients (and their advocates) had to say about clinical trials for gene therapy. The presentations were absolutely amazing, especially some of the early ones where organizations had really done their homework, holding focus groups and disseminating surveys to learn more about their community’s preferences and…
Telehealth for rare disorders
I love telehealth and think it offers the potential for more rare-disorder patients to get better care from clinicians who actually understand and have significant experience with their disorder! I’m not alone in believing that, as shown by the results of a survey by Rare Patient Voice last year on the topic of telehealth. They…
Looking ahead: 2023 and beyond
The XLH community (there really isn’t an official community for TIO or the other genetic hypophosphatemias that I’m aware of) has done some really great work, like the International XLH Alliance’s annual symposiums of hypophosphatemia, but there are a lot of projects that no one seems to be working on. So, in lieu of resolutions…
December hiatus
I’m taking the month of December off from blogging, since I’ll be too busy to write, and you’ll be too busy to read. I’ve got new topics lined up for the new year, and will be back on January 4th! If you don’t want to miss anything, and you’re not already a subscriber, click on…
Something to be thankful for
I’m still working my way through the videos from the Third XLH Symposium organized by the International XLH Alliance, and every time I think a presentation can’t be topped, the next speaker is even better! I’m so thankful for all the patient advocates working on our behalf, and especially the volunteers behind this symposium. If…
Dental issues
You may get tired of hearing me rave about how great the presentations were at the International XLH Alliance’s symposium this summer, but really, I’ve never seen anything quite this impressive, both individually and as a collection. The video on dental issues is the first time, to my recollection, that I’ve ever seen a presentation…
FGF23 inflammatory syndrome
For more than a decade now, my main message has been that XLH and the other chronic hypophosphatemias are far more than a “pediatric bone disorder.” Clinicians are trained in med school to use shorthand labels for conditions, so they can keep track of the overwhelming amount of information they need to remember. It’s necessary,…