Wednesday, September 20, 2017

KRN23/burosumab trial data presented at ASBMR

Some data from the clinical trials of KRN23/burosumab were shared with clinicians and researchers during the recent conference of the American Society for Bone and Mineral Research. Dr. Karl Insogna presented about the treatment of adults, and Dr. Michael Whyte presented for pediatric issues. 

The data were summarized in an article by MedPage Today, which you can read here:

Of particular interest is the lack of significant adverse effects reported in the adult study, as reported by MedPage Today:  

"The safety profile of burosumab was similar to what was seen for placebo, with no serious drug-related adverse events and no events leading to study discontinuation.
"We conclude that burosumab represents an exciting new therapy for XLH," Insogna said."

And for the pediatric study, as reported by MedPage Today, the improvement in the rickets score (lower is better), even though at least some of the patients had previously been treated with the current therapy (phos and calcitriol): "the most substantial improvements [in rickets scores] being seen for children who had more severe rickets (RSS of 1.5 or higher at baseline). In that subgroup, RSS decreased from a baseline score of 2.46 to 1.01 .... "

Also, side effects in the pediatric study were considered either insignificant or unrelated to the new treatment: "Renal function remained normal and there was no evidence of ectopic mineralization of the myocardium. The most common adverse events were transient injection site reactions, and only one child had a serious adverse event, which was considered unrelated to the therapy. "The favorable benefit-risk profile of burosumab holds promise for long-term outcomes for these children," Whyte concluded."

Monday, September 18, 2017

XLH Day Registraton is Closed

XLH Day Registration is now closed. Attendees will receive an email in the next two weeks with last-minute information about the event.

Saturday, September 16, 2017

Final reminder for XLH Day

This is it -- just one more day to register for XLH Day at Registration closes at midnight Eastern time on Sunday, September 17th.

Wednesday, September 13, 2017

Last chance to register for XLH Day

Registration for XLH Day closes this coming Sunday, and you won't want to miss it! Register now at

We'll be making some big announcements during XLH Day, with opportunities for you to make your voice heard in the medical and regulatory communities about the needs of XLHers and their families. We'll also be launching our book, Weak Bones, Strong Wills, the Stories of XLH, so attendees can be among the first to get a copy! Some of the contributors to the book will be attending, so you can even get it autographed if you wish.

We've already got more people registered than for any previous XLH Day, and more educational sessions are scheduled than ever before. The morning workshops cover physical therapy, dental issues, education plans, genetic counseling and othopedic foot care. The afternoon will be more focused on new treatment possibilities and a general Q&A session where you'll be able to ask the experts general questions about XLH.

Don't think it will be all work and no play, making XLHers dull! We've incorporated some fun events, like a game to test your knowledge of XLH, and we've built in lots of time for you to get to know other members of the XLH community on Friday and Saturday evenings. There will also be additional social opportunities on Sunday morning during the 5K walk/run event.

Most of the Network's board and staff will be at the event, and we hope to meet as many members of  the XLH community as possible on October 6-8. See you then!

Wednesday, September 6, 2017

Explaining about life with XLH

Labor Day in the United States is dedicated to the achievements of American workers, but it's often celebrated with family and friends as opposed to co-workers. 

If you live in the United States, odds are you had a barbecue or other get-together this past weekend. If so, you may have experienced either the loving support or the bewildered confusion of your family/friends with respect to XLH. 

Even if you have a supportive community, you may still be reluctant to talk too much about XLH for fear of coming across too negatively. And if you're surrounded by a less supportive community, you may struggle to make them fully understand the complicated medical explanations for your lived experience. Or sometimes it's just too exhausting to keep all the terminology straight, so it's easier to just brush off any questions. (Seriously -- who but a scientist or an XLH patient would ever imagine that calcitriol refers to a hormone made out of vitamin D and not to anything related to calcium?) 

Whatever your circumstances, if there are people around you who want to know more about XLH, who want to discuss how best they can be supportive, or who want to see the proof of what you describe as XLH symptoms/treatment -- we've got a suggestion: send them to our forum

Some of the information at the forum is open to the general public, other sections are open to family/friends, and others (the most personal discussions) are limited to those most directly affected (patients and the parents of minor patients). We encourage extended family members and friends to join, so they can read the FAQs about the condition and get links to news and journal articles. Doctors and other health care professionals are encouraged to join as well.

So, the next time someone asks how they can learn more about your XLH or insists that XLH is just for kids, send them our way. The forum will set them straight!

Wednesday, August 30, 2017

Bone biopsy data

First, a quick note -- if you've registered for XLH Day (or plan to) and don't have your hotel reservations yet, make them now. The discounted rate is only good through September 5. Also, if you'd like to apply for financial assistance with the hotel cost, apply before September 5. Instructions for both hotel reservations and hotel stipend here:

Now for the news: Ultragenyx Pharmaceutical has released some very encouraging results from the clinical trial involving bone biopsies of patients before and after treatment with KRN23/burosumab. Note that the results from after treatment are only for two patients, an obviously tiny sample size!

Here's the summary from a recent press release: 

Bone biopsy results from the first two adults in the bone quality study will be included in the burosumab BLAIn this study, baseline biopsies obtained from 11 patients confirmed that a majority of the patients had severe osteomalacia with a mean osteoid volume/bone volume of 26% vs. normal range of 0.3%-3.1%. These data verify that adult XLH patients have severe underlying bone disease even many years past puberty. Follow-up biopsies after 48 weeks of burosumab treatment are available from the first two patients. For these two patients, osteoid volume/bone volume was decreased from 24% and 29% to 9% and 7%, respectively. Osteomalacia was characterized by the pathologist as improving from severe to mild disease. Additionally, a post-hoc statistical analysis of bone fracture healing in the recently announced adult Phase 3 placebo-controlled study showed an odds ratio of 7.76 for complete healing of fractures and pseudofractures in the burosumab group compared to the placebo group (p=0.0004) at 24 weeks.

You can read the entire press release here:

Friday, August 25, 2017

Application for FDA approval of KRN23/burosumab filed

The application for approval of KRN23/burosumab has been filed with the U.S. Food and Drug Administration, according to a press release by Ultragenyx Pharmaceutical and Kyowa Hakko Kirin.

The filing sets a number of timeframes in motion. The first one is a sixty-day review period that's just to confirm that the application meets certain technical requirements, rather than a substantive review of whether the treatment is safe and effective. At the end of that time period, the FDA will set other deadlines for action. You can read the full press release here:

The Network will be following the process closely and sharing what we learn with our community. We'll also be sharing some news about how your voice can be heard during the review process, as soon as we have the details worked out.

Stay tuned for updates, because things may start moving fast now! The new treatment has already been given breakthrough treatment designation for pediatric treatment, which should mean shorter turnaround for the FDA's review process. If you're not already following us on social media, make sure to do it now, so you'll get the latest news right away. 
Twitter: @XLH_Network

We'll also be talking more about the FDA process at the forum over the next months. You can find the thread here (where you'll need to log in first, or register if you haven't already):