Wednesday, June 25, 2014

Latest KRN23 trial results

If you've been following us on Facebook (, you've seen our pictures from the ICE-ENDO conference this week.

The big news coming out of the conference, at least for XLH patients, is the announcement of the latest KRN23 clinical trial results. KRN23 is an antibody developed to counteract the excessive FGF23 that is at least part of the process of XLH patients' phosphate wasting. KRN23 is being developed in collaboration between two pharmaceutical companies, Kyowa Hakko Kirin and Ultragenyx.

The CEO of Ultragenyx, Emil Kakkis, M.D., PhD., is quoted by MarketWatch: "Based on observed improvements in phosphate metabolism, bone remodeling markers, and certain quality of life measures, we are encouraged by the potential for KRN23 to treat the underlying cause of bone disease in both adult and pediatric patients with XLH."

You can read more about the results here. As the news report indicates, pediatric clinical trials are starting now (find out more here), and additional adult clinical trials are in the works. Stay tuned, here and at Facebook, for updates on those trials.

Friday, June 20, 2014

Burden of illness study for XLH patients

Ultragenyx Pharmaceutical, Inc. is sponsoring a research study to better understand how XLH impacts the lives of affected children and adults. The study consists of an online survey that asks questions about your experience with XLH, including how it was diagnosed, what symptoms and complications you (or your child) have experienced, how the disease has been managed and how these events affect your daily life.  Anyone interested in participating can follow the link below to learn more about the study.

Burden of illness study

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

Wednesday, June 18, 2014

Meet webmaster Jim Walker

This week, our webmaster, who prefers technology to essay writing, shares a little about his experience with XLH and involvement with the Network. 

1. How did you get involved with the XLH Network, and then how did you become a member of the Board of Directors?

My mother became ill when I was nine, with frequent and severe headaches. In my early thirties, I started having the same symptoms I remembered her having. With a little research I discovered her diagnosis was something none of my doctors had heard of, called syringomyelia. I did a little digging around and learned it was not known to be genetic. I knew we both had vitamin D-resistant rickets (the name I knew then), so I decided to research that. While searching the web I found the "Vitamin D Metabolism and Rickets Web Site," as our site was called then. I subscribed to the F-HYPDRR mailing list, and two days later the subject of headaches came up. I was sure there was a connection between syringomyelia and XLH, eventually found it, in a type of Chiari malformation, and had surgery to correct it. If only the XLH Network had been around while my mother was sick, she to might have found some relief.

I became more active with the Network in 2005, when the previous web-master stepped down. I volunteered to help out and have been doing so since. My goal has been to ensure that anyone searching the web for information about their symptoms will be able to find us. I hope soon we'll have information about the cure.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I enjoy technology and keeping current with it. I have an active interest in everything involving the internet. Getting to understand and playing with new technology is how I spend the little free time I have.

3. What XLH project are you working on now that you're particularly enthusiastic about?

I'm excited to see all the new content posted to site and doing what I can to help accommodate that.

Friday, June 13, 2014

Pediatric clinical trial for KRN23

The pediatric (ages 5 to 12) clinical trial for KRN23 (the antibody developed to control FGF23, which is at least part of the root cause of XLH patient's phosphorus wasting) is about to start.

Details are at

Note that while the listing indicates "not yet recruiting," it is NOT too soon to contact the nearest of the locations participating in the study. This is a very limited study, with only thirty participants worldwide, so the slots will be filled quickly.

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 protocol, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members. The NIH website offers some good questions to consider while deciding whether to enroll in a clinical trial.

Wednesday, June 11, 2014

Getting things done

If you're following us on facebook (and I hope you are:, you probably saw a picture of Network president, Becky Mock, along with Board members Oliver Gardiner (who flew all the way over to North Carolina from London!) and Geoff Edelson (plus other member volunteers, Rebecca Putnam, Meredith Mock and Sheila Hunter) at the ISPE-CaSA conference.

The conference is an annual gathering of technical professionals in the pharmaceutical and medical device manufacturing industries. It was an opportunity to interact with a different group of medical professionals than we've previously met.

As Becky told me, they "had a great time, made new friends for the Network, received a five thousand dollar contribution from the organization and raised an additional thousand dollars in a raffle."

It was also an opportunity for board members to meet with representatives from Ultragenyx Pharmaceutical, including Dr. Ali Skrinar (senior director, clinical sciences) and Kim Mooney (Associate Director of Patient Advocacy).

Ultragenyx describes itself as "a clinical-stage biotechnology company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases." Of particular interest to Network members, Ultragenyx is collaborating on the development and commercialization of KRN23 for treatment of XLH. Further information about KRN23 is expected to be released during an upcoming global conference for endocrinologists in Chicago on June 21-24. We'll have updates here as soon as we can.

In addition to the meetings and money (both of which are nice, of course), the ISPE-CaSA event also served as a deadline for completing some tasks that have long been on the Network's agenda. You may remember the video that SAB member, Carolyn Macica, was instrumental in putting together. We also updated our brochure, to include new research and other useful information. Finally, we had a banner made, so people could find us at the ISPE-CaSA event (and in future events where we have a booth).

Wednesday, June 4, 2014

Keep moving

Today, I --  Gin -- am here, speaking personally, as opposed to in my official role as the Social Media Coordinator. 

There's a lot of disagreement in the medical community about almost everything, but the one thing that most experts agree on is that keeping active, both physically and mentally, is good for us.

That can be a bit of a challenge for those of us with XLH, especially as we get older. Our joints can become arthritic and our ligaments and tendons can become calcified, so movement hurts. Pain causes us to stop moving, and then the reduced moving makes it harder to move without pain, which causes us to move even less. 

For the last couple decades, I've been turning to stone, with calcifications in assorted soft tissues, from the posterior longitudinal ligament (the rubbery thing that runs along your spine, keeping the vertebrae from flexing too far, while still allowing it to flex somewhat), to my Achilles tendon. I don't know if being more active while in my 30s and 40s might have prevented or slowed down the calcification, but there isn't anything I can do to reverse the calcification now. (Note to young members: Keep moving. It's important for everyone, but possibly more so for XLH patients.)

What I can do now is to keep the restrictions from getting any worse. Or at least try to. I can't exactly run a marathon or even walk much, but I can do little things. I can't move a lot or fast, but I can move more

Last summer, I committed to spending fifteen minutes a day in the vegetable garden. Every single day of the growing season. No excuses. At the end of the summer, I wasn't running marathons, and I still needed my cane for stability, but I did feel better. As far as I could tell, the calcifications weren't any worse, and I consider that a major victory!

This summer, I'm back to my fifteen-minutes-a-day commitment. I really do enjoy my time in the garden, but when the weather is hot and muggy, or my joints are particularly creaky and I'm irritable, it can be hard to make myself go out and weed. Knowing it's just a small commitment, that I can stop at the end of the fifteen minutes, helps get me out the door. And then, once I'm out there, I'm more likely than not to stay out for an hour or so. I don't move very fast, and I rely on my hoe so I don't have to bend too far or kneel, but I still get in a bit of exercise every day. 

I'm feeling better, and the garden looks more productive than ever. It's amazing what my fifteen minutes a day are adding up to. This year's garden has 400 onions, 200+ garlic heads, 36 pepper plants, a dozen tomato plants, and an assortment of beans, swiss chard, winter squash, summer squash, cucumbers, broccoli and herbs. I'm feeling better and eating better.