Most of the time when I share research opportunities, they’re in the U.S., because that’s what I’m most familiar with. But today I’m going to talk exclusively (well, almost) about what’s going on outside the U.S. for those who are looking to get involved internationally. There’s a lot of really interesting research going on around the world, and I hope that if you (or someone you know) is outside the U.S., you’ll find something you can participate in.
I’m going to be talking about research that’s currently (or soon to be) recruiting XLH patients specifically, and I apologize that they’re specific to XLH, so they exclude the autosomal variants and TIO, but unfortunately that’s how they’re set up. Registries are popping up in various places too, but I’ll save them for another post. And I’m assuming you know about the patient advocacy group in your country, but if you don’t, check out the International XLH Alliance‘s website for links to its members’ sites. Patient groups often know about and share opportunities to engage with researchers in their area.
In no particular order:
In Germany, scientists are studying the treatment of adults with burosumab: This one looks like it’s just confirming earlier clinical trial data, but it has a couple of extra exercise tests (standing up from a chair and going up/down stairs), which I think will also offer some good insights into muscle function.
In France, there’s an extension of earlier research (so it’s limited to patients who were in those trials), but it’s particularly interesting because, in addition to a number of things already checked in other studies, they’re also attempting to see if burosumab has any effect on the progression of enthesopathy. The timeframe (88 weeks, so about a year and a half) seems too short to see changes in something that happens extremely slowly, but perhaps they’ll be able to see something useful and possibly extend the study out for several more years. My guess is that they’ll need data covering at least five years, possibly ten years, in order to really see the progression (or lack of progression) of enthesopathy, but this is a start.
There’s another study in France, which looks really important for understanding the need for ongoing treatment after the growth plates close. It’s looking at the “lived experience of adolescents with XLH” shortly before the end of bone growth. “The purpose of this study is to describe the lived experience of XLH for adolescents who are being treated with burosumab at the end of skeletal growth, with a focus on adolescent reported symptoms, activity duration and intensity, and wider burden, and to describe change over time for those who continue and discontinue burosumab at the end of skeletal growth.” Obviously, eligibility depends on being in the right age group, but it’s really important research. Too many in the medical community think treatment can safely stop at the end of adolescence, with patients having no further symptoms, and this data may help change that mindset.
And yet another one in France — really great work happening there! — on abnormal muscle function in XLH kids. I’ve talked before about the research happening at Yale (I think they’re still looking for one more volunteer, must be NOT on burosumab at time of screening, and I can personally vouch for the team being really great to work with) on the effect of burosumab on muscle function. The French study will be a nice complement to the Yale work. I’ve seen a trend in the agencies that determine access to treatment whereby they believe adults don’t need treatment of any kind once our bones are fully formed (or at least that the benefits aren’t worth the cost, i.e., we aren’t suffering enough to be worth treating), and we all know there’s a lot more to the disorder than bone formation, but there’s very little information on how it affects our muscles. If there is a significant adverse effect on muscles, which obviously need to continue to work well in adulthood, and that adverse effect can be reversed by burosumab, it helps us make the case in favor of ongoing adult treatment. That’s why I think that these two studies, especially when the results are viewed together, could go a long way in making the difference between two possible futures, one in which adults have widespread access to treatment and one where they’re routinely denied treatment.
There’s a really wide-ranging patient-focused study in Denmark, “Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls.” This one may offer some important insights into questions about the effects of XLH on our hearts, among other things. There have been hypotheses in the past about XLH causing various heart conditions, but the data is either sketchy or non-existent, with the experts I’ve spoken to believing we’re not at any particular extra risk, but they are the first to admit, it’s just their impression from treating a lot of patients, not based on any actual data!
Those are the studies I find most interesting, but if you want to see the full list of studies that are either currently or soon to be recruiting volunteers, it’s at clinicaltrials dot gov. Just put XLH in the search box and choose the “recruiting” (not “all studies) option.
I hope you’ll consider enrolling in a study whenever one comes along that you’re eligible for and is in your geographic area. In my experience, travel to and from the study (within a given country, not so much overseas, although it can’t hurt to ask if you’re willing to cross country lines!) is covered, along with local transportation at the research site and meals and lodgings as needed, so don’t let distance or costs stop you! You should be told in advance (and if you’re not told, you should ask!) how the costs are handled, whether it’s directly to the hotel/airline/etc. or by way of reimbursement (so you’d have to advance the money initially and then get repaid) or some combination of the two. There’s often a stipend too, generally fairly nominal, which can help with things that aren’t directly reimbursed. In some cases, the study will also pay for you to have someone come with you if you have difficulty navigating transportation on your own.
It can be a little scary the first time you participate in a study, when everything feels new and overwhelming. I was expecting a very impersonal, daunting experience, but it was actually one of the easiest new experiences I’ve ever had, with amazingly supportive staff who try very hard to anticipate your every need and treat you like royalty!
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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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