Wednesday, December 27, 2017

Latest data on KRN23/burosumab trials

The latest data from 48 weeks into the adult Phase 3 trials are really encouraging. They show continuing improvement in terms of pain reduction, stiffness reduction and improved fracture healing. Perhaps most impressive was the drop in painkiller medications that would seem to be an objective corroboration of the reported pain reduction (and especially encouraging insofar as pain medications carry with them some serious consequences):

[quote]The patient frequency of reported opioid use decreased by 76% from 17 patients (25%) at baseline to four patients (6%) at week 48 in the burosumab group, and by 70% from 13 patients (20%) to four patients (6%) in the crossover group [patients who started on placebo and therefore had only been on burosumab for 24 weeks instead of the full 48]. The patient frequency of reported nonsteroidal anti-inflammatory drugs (NSAIDs) use decreased by 72% from 47 patients (69%) at baseline to 13 patients (19%) at week 48 in the burosumab group, and by 74% from 43 patients (65%) to 11 patients (17%) in the crossover group. [/quote]

You can read the full report here:

Wednesday, December 20, 2017

Happy holidays!

We wish you happy holidays and a healthy new year!

You can see our holiday card at the official facebook page,

Meanwhile, the board is taking a brief break to get prepared for what we hope will be a life-changing year for the entire XLH (and related hypophosphatemias) community.

Tuesday, December 19, 2017

Paid Market Research Opportunity

A company by the name of Magnolia Innovation is doing some market research relevant to the XLH community. They're offering a $125 payment for about an hour of time (beginning in January). Adult patients and the parents/guardians of minor patients are eligible to participate. For more information, visit :

NOTE: The XLH Network, Inc. does not endorse or critique marketing research projects, and does not counsel individual patients either for or against participation in any marketing research project. Prospective volunteers should always carefully review the researcher's documentation, and discuss the pros and cons of participation with trusted advisers.

Friday, December 15, 2017

Positive European Medicines Agency recommendation for KRN23/burosumab

Excellent news for the European members of our community!

According to a press release today from Ultragenyx and Kyowa Hakko Kirin, "the Committee for Medicinal Products for Human Use (CHMP), the European Medicines Agency's (EMA) scientific committee, has adopted a Positive Opinion recommending the conditional marketing authorization of burosumab, an anti-FGF23 human monoclonal antibody, for the treatment of X-linked hypophosphatemia (XLH) with radiographic evidence of bone disease in children 1 year of age and older and adolescents with growing skeletons."

There's more work to be done before the treatment will be available to patients in Europe, but this is a huge leap forward! A final decision needs to be made by the European Commission, and is expected in the first quarter of 2018. It will apply to all 28 countries of the European Union, Norway, Iceland and Liechtenstein, but individual countries will still need to do additional reviews, largely with respect to payment issues, rather than safety and efficacy issues.

You can read the entire press release here:

Wednesday, December 13, 2017

Advocacy in Spain

A group of patients in Spain have formed an organization called the Spanish Association for Hypophosphatemic Rickets and Osteomalacia (AERHyO), and are working hard on behalf of the approximately fifty known patients in Spain and the hundreds more that are misdiagnosed or simply haven't been identified. They also held their first patient day on November 17th of this year.

You can read more about their group and the Spanish Agency for Medicines and Health products (the country's equivalent of the U.S. Food and Drug Administration) here:

Wednesday, December 6, 2017

Advocacy at the FDA

Seven members of the XLH community went to the U.S. Food and Drug Administration on Monday to argue in favor of approving KRN23/burosumab for the treatment of XLH in both children and adults. The focus of our presentation was that XLH is a whole-body, whole-life disorder, not limited to bone growth issues and not limited to childhood.

Executive Director Carol LaFleur led the presentation with an overview of our position and some stories by patients who could not be present in person. Dr. Suzanne Jan deBeur talked about her concerns as a clinician and shared some of her patients' experiences during the clinical trials. Network Vice-President Joyce Inman talked about the research that we'll be embarking on in 2018 with our natural history study and about her experience as the mother of a spontaneous XLHer. Network Treasurer Geoff Edelson, Director Gin Jones and Network member Marina Velazquez shared their experiences as adults with XLH.

There were about two dozen representatives of the FDA present to to hear our stories. While of course they could not tell us anything about the ultimate decision that they'll be making, they were attentive and acknowledged our concerns that too little is understood about XLH, particularly in adults, and that while symptoms vary, at least some adults need ongoing treatment.

The FDA's decision is due April 17, 2018. We won't be sitting back and idly waiting for the decision though. We have a lot of work to do in the meantime to make sure that everyone is ready for what we hope will be the approval of burosumab for treatment of XLH in both children and adults.