Thursday, September 29, 2016

Pediatric clinical trial of KRN23

The Phase 3 clinical trial of KRN23 for children from 1 to 12 years old has been announced. This is a head-to-head comparison study of treatment with KRN23 to the current treatment with phosphate/calcitriol, happening throughout the world.

You can find the location information and read more about the inclusion/exclusion criteria here:

The XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.

Wednesday, September 28, 2016

The Network at ASBMR

President Bill Coogan and Board member Gin Jones represented the Network and the XLH community at the annual conference of the American Society for Bone and Mineral Research in September.

Data on the clinical trials of KRN23, the antibody to FGF23, which causes phosphate wasting, were presented during the meeting, and you can read about it at Medscape: or in the press releases from Ultragenyx Pharmaceutical: and

Bill and Gin also met with some of the Scientific Advisory Board members, and attended the Rare Bone Disease event that included a presentation by Scientific Advisory Board member Suzanne Jan deBeur on XLH.

Dr. Karl Insogna spoke at another session on rare bone diseases, focusing on the symptoms and treatment of adults with XLH. He was particularly emphatic in warning clinicians about the problems with prescribing large amounts of phosphorus without adequate amounts of calcitriol/rocaltrol. He also recommended that patients stay active, particularly with non-weight-bearing exercises, like swimming and Tai Chi.

At our official facebook page, , you can see pictures of the booth that was a joint effort by a group of rare bone disease organizations jointly known as the Rare Bone Disease Patient Network, and the poster that summarized some results from a recent study at Quinnipiac University's Frank Netter School of Medicine into XLHers' Gait, Mobility and Range of Motion.

Wednesday, September 21, 2016

Global Genes Patient Advocacy

The Global Genes Rare Patient Advocacy Summit is happening in California tomorrow and Friday (September 22-23). You can register for the livestream here: If you can't watch them live, they'll be available afterwards to watch in the archives.

To get an idea of what the event is like, check out the previous years' archives here:

There are a lot of great topics scheduled for this year's event. One that stood out as particularly relevent to the XLH community is on transitioning care from pediatric to adult healthcare providers.

Global Genes is one of the leading rare disease patient advocacy organizations, and it works to build awareness, educate the global community and provide critical connections and resources that equip advocates to become activists for their disease.

Wednesday, September 14, 2016

XLH Symposium in Paris

Last week, there was a symposium on XLH in Paris for medical researchers and clinicians to learn and share their experiences. It was organized jointly by the RVRH-XLH patients' association and the Reference Center for Rare Disorders of the Calcium and Phosphorus Metabolism, , with help from other medical-professional groups.

Two of our  Scientific Advisory Board Members, Thomas Carpenter and Carolyn Macica spoke at the event. You can see the full agenda here:

One of the Network's directors, Oliver Gardiner, was there to represent our patient community. He reports that the conference was hugely successful, with over one hundred medical professionals attending from over 23 countries  in order to discuss research and developments related to XLH and ADHR.

You can see a picture from the event at our official facebook page, It shows Oliver with the UK medical professionals who attended the event.

Wednesday, September 7, 2016

When to see a doctor

Too often, rare-disorder patients stop seeking treatment, because they're overwhelmed with all the medical appointments and they've come to believe that nothing can be done about their condition.

While it's understandable, it's also risky. Many XLHers have reported not knowing they had a broken bone for weeks or even months after the injury, because the pain didn't feel significantly different from the routine bone pain they'd experienced without having any broken bones.

Once in the habit of ignoring bone pain as just something to live with, it can be easy to ignore pain in other parts of the body. Again, we've heard many stories of XLHers not realizing they had a serious medical condition, because they were used to living with pain and waited longer than they should have before seeking medical treatment.

For most people, it's a fairly simple formula for deciding whether to go to the doctor: if they hurt, they seek treatment. For someone who hurts all the time, it's a more complicated decision, with a lot of trial and error and wondering if the right decision has been made.

For some suggestions that might make the decision a little easier (but not completely easy!), check out this guide from Psychology Today online.