Thursday, October 27, 2016

KRN23 pediatric trial is enrolling patients

Ultragenyx Pharmaceutical, Inc. just announced that the first patient has been enrolled in the most recent KRN23 clinical trial. As explained by the CEO and President of Ultragenyx, Emil D. Kakkis, "This study will allow us to directly assess whether KRN23's potential impact on rickets ... is superior to that of conventional oral phosphate and vitamin D therapy for children with XLH."

You can read the press release here:

You can read more about this Phase 3 pediatric clinical trial, which is recruiting pediatric patients (currently recruiting at two locations in California, plus one location in each of Indiana, Missouri and Tennessee, with additional sites worldwide not yet recruiting) 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.

If you're considering participation in a trial, please remember that discussion of the details of others' experiences (especially with respect to symptoms and side effects) may have some adverse consequences for the validity of the study. On the other hand, discussions of things like the time commitments, disruptions to daily life and the quality of the staff are safer to discuss with other participants in the trial.

Wednesday, October 26, 2016

So many stories, so little time

Remember our call for stories about living with XLH? The deadline was October 1st, but we've been so busy working for  you that we missed our own deadline.

We've got a bunch of great stories for Weak Bones, Strong Wills, The Stories of XLH, but it's become obvious that we won't be reading and organizing them for a few more months, because of other commitments, so we're extending the submission deadline to December 31, 2016.

If you meant to send in a story and, like us, ran out of time, you've got a second chance now. And if you didn't mean to send in a story ... well, why not? We've got some great material already, but as we all know, there's such wide variability in the symptoms and experiences of XLHers, that it's a challenge to try to represent the many facets of living with XLH. We need every story, every angle, every voice, to make this the brilliant book we think it can be.

You can find more information and the submission guidelines at our discussion platform here: If you haven't already registered with the forum, you'll need to do that first, or else send an email for a copy of the guidelines to: XLHstories at gmail dot com.

Wednesday, October 19, 2016

The promise of monoclonal antibodies

As KRN23 is entering what is expected to be its final clinical trial prior to submission for approval by the FDA, it may be useful for the XLH community to understand more about this potential treatment.

KRN23, rather than being a traditional drug, is similar to newer treatments on the market, commonly referred to as "biologics." KRN23 is a "monoclonal antibody." It's not the only such product. You may have seen advertisements for one currently used in the treatment of rheumatoid arthritis: abatacept (Orencia).

Monoclonal antibodies are designed to bind with another substance in the body with greater specificity than other drugs, generally rendering the substance inactive. XLH (along with the autosomal variants and tumor-induced osteomalacia) appears to be well suited to treatment by this kind of antibody.

The symptoms of XLH is are caused, in large part, by the excessive production of a hormone, Fibroblast Growth Factor 23 (FGF23), which in turn causes phosphate wasting and the decreased ability to metabolize Vitamin D into its active form. The expectation is that the antibody known as KRN23 will bind to the FGF23 and essentially render it inactive, allowing normal phosphate reabsorption and active vitamin D production.

This expectation appears to be proving true in the clinical trials to date. If you'd like to read more about it, there's a somewhat technical article that's still comprehensible to the layperson (at least if you're willing to look up the terms  you don't understand) in the Journal of Endocrinology & Metabolism, which you can read for free here:

The conclusion: "KRN23 has the potential to improve biochemical and skeletal outcomes in adults and children with XLH, with greater convenience and compliance than multiple daily doses of calcitriol and phosphate."

Of course, there's still more work to be done before we'll know for sure that KRN23 will be a safe and effective treatment. Additional research is also continuing into better understanding of XLH, including searching for answers as to why and how the DNA mutations associated with XLH trigger the excessive production of FGF23.

So much has been learned about bone metabolism since the discovery of FGF23 just sixteen years ago -- that's four years after the XLH Network was founded! -- and we're increasingly hopeful about the prospects of a better quality of life for individuals with hypophosphatemia.

Thursday, October 13, 2016

Rare disease, rare art

The EveryLife Foundation For Rare Diseases ( is a nonprofit dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. It sponsors an annual contest to recognize artists from within the rare disease community.

This year will be the eighth such event. This year, the organizers "hope to engage even more members of the rare disease community in order to raise awareness of their diseases and showcase their talent."

The deadline for entry is December 5, 2016, with prizes ranging from $100 to $500, plus the opportunity to have the winning work displayed at the Rare Artist Reception to be held on March 1, 2017 in Washington, DC in conjunction with Rare Disease Week on Capitol Hill. Artists with works chosen for this reception will be eligible for travel stipends.

For more information and the instructions for how to enter your artwork, go to

Tuesday, October 11, 2016

More patients with joint replacement surgery

We previously shared information about a research survey for XLH patients who have had joint replacement surgery.

Here's the gist of the project: "We [the researchers] are seeking men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement to participate in an online questionnaire in exchange for a Starbucks gift card. The purpose of this questionnaire is to learn more about joint replacements in patients with XLH. With the information gathered, we will be able to educate clinicians about joint replacements in patients with XLH."

The researchers have had some response, but could use some more, and have expanded the criteria for eligibility, so that patients previously ineligible may now be eligible. In particular, those who are in clinical trials now are eligible. Accordingly, if you didn't do the survey before and you're interested in sharing your joint-replacement experiences with researchers now, here's the official announcement (and make sure to read the full announcement in the link below):

We are currently accepting new submissions from patients who are either enrolled, or not, in a clinical trial! If you were previously excluded because of your involvement in a clinical trial and you are interested in participating in this very important assessment of pain and joint health, please complete the survey using the updated link below.

Additionally, if you have attempted the survey previously but have not completed it, you can restart the survey using the same link below.

If you could not take the survey because you had a joint replacement within 6 months, please take the survey as soon as you pass the 6-month mark.

Thank you for your participation!

Contact: or (203) 582-4053

*If you have already successfully completed the survey, there is no need to resubmit your response.

NOTE: As always, 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 study. Prospective volunteers should always carefully review the research study's documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.

Wednesday, October 5, 2016

Celebrating the Twentieth Anniversary of the Network

This November will be the twentieth anniversary of the coming-together of XLH patients to form the Network. What an amazing two decades for a grassroots organization of rare disease patients. It's likely that none of those original founders could have imagined where we'd be today, with so many members, so much improved knowledge about the underlying metabolic cause of the condition, and so much hope with the possibility of a breakthrough therapy on the horizon.

So far in 2016, we've been working hard to ensure that the next TWENTY years will bring even more accomplishments for our community. We've already represented families with XLH at three major medical conferences. We've hosted the Texas XLH Day and had the opportunity to meet families who are part of our network, as well as doctors and researchers who are working to support our community. We are also closely monitoring the progress of the clinical trials for KRN23, a new and potentially life-changing treatment for patients with XLH.

And that's not all. You'll be hearing about some other work in the next month, as the behind-the-scenes projects come to fruition. In particular, we're on the verge of launching the XLH Natural History Study and Patient Registry—a platform that will, for the first time ever, allow us to collect the data necessary to further the research into XLH and related conditions.

We hope you'll support that ongoing work and join in the celebration of the past TWENTY years of community and advocacy. For every donation of at least TWENTY dollars made to The XLH Network, Inc. from October to December, donors will receive one of our new XLH Network car stickers. (They're about 3" x 5", and you can see a picture at our official facebook page, )

We hope you will enjoy this small recognition of your contributions to the Network and the work that we do. And, of course, we hope that people will see your sticker on your car or laptop case and ask you about The XLH Network, Inc. When they do, be sure to take a moment to educate them!

Go to to donate and get your XLH Network sticker today!

Tuesday, October 4, 2016

Around the world with XLH: Spain

Long-time Network member Marina Velazquez met with a pediatric nephrologist, Carmen de Lucas Collantes, MD, and five families living with XLH in Spain this past weekend, to share their experiences and learn more about treatment options around the world.

The families were from Madrid, Cordoba and Avila, and they met in the Hospital del Niño Jesús in Madrid, Spain. One of the major topics of discussion was whether treatment was any different in Spain than in the United States. They learned that the medical treatment itself is no different, but there are differences in the structure of the health care system. For one thing, it is more common for nephrologists to provide the treatment in Spain, whereas endocrinologists usually provide the treatment in the U.S. The more troubling difference is that the socialized medicine system in Spain limits where patients can go for treatment, so some patients don't have access to doctors with significant XLH experience.

You can see a picture of the five familes with Marina and Dr. Carmen de Lucas Collantes at our official facebook page: