Ultragenyx Patient Day

Every year, Ultragenyx Pharmaceutical invites patients with certain rare diseases, including XLH and the related phosphate-wasting disorders, to their annual patient day in Novato, California, for food, games, refreshments and live music. This year's event will have a superhero theme and be held on April 7, 2018.

There are a limited number of scholarships are available to pay for transportation and lodging. To get more information, or to register and/or apply for a scholarship, go here: https://digital.lenos.com/keymeetings/ultragenyxpatientday2018/Content/Welcome

Scholarship recipients will be chosen by February 1, so apply as soon as possible if you're interested.

Please note that anyone currently enrolled in a clinical trial (or with a child enrolled in a clinical trial) sponsored by Ultragenyx Pharmaceutical may or may not be eligible to attend Patient Day due to federal regulations. When you register, you'll be asked about which trial you're in, and then the information will be reviewed and you will be contacted if you are ineligible to attend.

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: http://xlhday.com/?page_id=220

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 BLA. In 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:
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1034806

FDA to consider both pediatric and adult issues

According to a recent Ultragenyx press release, the company has had a meeting with the FDA to discuss the planned submission for approval of KRN23/burosumab, with encouraging results. 

The press release states: "At the meeting, the FDA agreed that the BLA [Biologics License Agreement] can be submitted based on available clinical data and confirmed that both pediatric and adult indications would be included in the review. Based on the agreement, the submission of the burosumab BLA is planned for the second half of 2017."

Of particular importance to the XLH community is the FDA's decision to consider both pediatric and adult indications for the use of KRN23/burosumab, since previously it appeared that the FDA might only consider pediatric use of the new therapy during its review under the Breakthrough Therapy designation. Without FDA approval for adults, insurance companies might only cover the treatment for children, not for adults. Anecdotal evidence suggests that the treatment can be extremely beneficial for adults, not just for children.

The Network is investigating a variety of ways to provide the FDA with information from the patient perspective, particularly with respect to adult issues that need treatment, which have not been addressed as widely in the medical literature as the pediatric issues. We'll let you know  how you can help too as soon as we have more information.

You can read the entire press release here: 
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1031181

Additional results from KRN23/burosumab studies

The latest press release from Ultragenyx Pharmaceutical, primarily addressed to investors, includes some new data on the healing of fractures in the adult XLHers in the Phase 3 clinical trial of KRN23/burosumab:

"At study entry, 52% of patients (comprising 48% of patients randomized to burosumab and 56% of patients randomized to placebo) presented with either active fractures (12%) or pseudofractures (47%) or both. At week 24, 37% of active fractures or pseudofractures in patients treated with burosumab were completely healed compared to 10% on placebo. Additionally, at week 24, 3% of existing active fractures or pseudofractures treated with burosumab worsened compared to 11% on placebo." 

It's worth noting that the study, in addition to showing apparent benefits for healing, also documents just how widespread the occurrence of fractures and pseudofractures is within the adult XLH community, with roughly half of the study participants having a fracture or pseudofracture! 

You can read the entire press release here:
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1024922

Ultragenyx Patient Day

The Ultragenyx Patient Day was held this past weekend at the company's Novato location.  Rare disease patients from across the country gathered for a day of networking, family activities and the chance to connect and share with others. Fifty-five XLH families were in attendance and had an opportunity for a meet and greet with board members and our new executive director, Carol LaFleur.

President Bill Coogan reports that the food was plentiful, with Thai, Italian and Mexican food trucks, along with ice cream and gelato trucks and an additional buffet set-up. The featured band, always a last-minute surprise, was Smash Mouth. There were other activities for people of all ages and abilities, with approximately a thousand people in attendance, including patients, family members and employees of Ultragenyx Pharmaceutical and Audentes Therapeutics (gene therapy company). 

On behalf of the XLH community, the Network is grateful to Ultragenyx, Audentes and the people who worked so hard to make Patient Day a memorable experience. 

You can see pictures at our official Facebook page, https://www.facebook.com/xlhnetwork/

Last chance for Patient Day Scholarship

Quick reminder that Monday, February 20th, is the deadline to apply for a scholarship to the Patient Day sponsored by Ultragenyx Pharmaceutical in Novato, California. Don't wait until the last minute if you want to attend!

Information here: https://digital.lenos.com/keymeetings/UltragenyxPatientDay2017/Content/Welcome

Ultragenyx Pharmaceutical's Patient Day

Every year, Ultragenyx Pharmaceutical invites patients with certain rare diseases, including XLH and the related phosphate-wasting disorders, to their annual patient day in Novato, California, for food, games, refreshments and live music.

This year's event will be April 22, 2017, and a limited number of scholarships are available to pay for transportation and lodging. To get more information, or to register and/or apply for a scholarship, go here: https://digital.lenos.com/keymeetings/UltragenyxPatientDay2017/Content/Welcome

Scholarship recipients will be chosen on February 20, 2017, so apply before then if you're interested.

Please note that anyone currently enrolled in a clinical trial (or with a child enrolled in a clinical trial) sponsored by Ultragenyx Pharmaceutical may or may not be eligible to attend Patient Day due to federal regulations. When you register, you'll be asked about which trial you're in, and then the information will be reviewed and you will be contacted if you are ineligible to attend.

Interviews about pediatric treatment goals

The medical community is listening to patients more and more, and now the XLH community is in particular demand for sharing our thoughts and experiences as the time approaches for Ultragenyx Pharmaceutical to apply for early approval of KRN23 for pediatric use in 2017. Ultragenyx is looking to talk to a few pediatric patients and their parents to better understand whether their original goals for the clinical trials were correctly targeted and to get better insight into what children and caregivers think are the most significant ways in which better treatment might be meaningful. 

If you're interested in participating, please contact Adelphi Values, the research company contracted by Ultragenyx to do the interviews. You can reach Holly Spencer at holly.spencer@adelphivalues.com or 617-720-0001. Participants will be compensated for time and/or travel. More details are in the official flyer from Ultragenyx below.

Some members of the community have already offered feedback in other settings, like the Burden of Illness survey and the recent joint-replacement survey. We (and the researchers) appreciate everyone's contribution to science, but there's so much more to be learned. Potential new medical therapies like KRN23 require significant clinical research to make sure they're safe and effective and they're meeting the needs of patients and their families. Clinical trials, however, are only part of how the research community determines how best to treat patients living with chronic illnesses. Another important method consists of interviewing patients (and caregivers). 

Eventually, the Network's Natural History Study  (launching in 2017) will collect answers to a broad range of questions about experiences with phosphate-wasting disorders, so future research won't have to start from scratch. That will take time, though, and some answers are needed about the patient experience in the very short term, while the application for KRN23 approval undergoes review by the FDA and comparable governmental agencies throughout the world. Much of this information is related to whether or not the original goals for clinical trials were correctly targeted, and the only way to determine that is to ask further questions of patients. 

As always, 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.

Filing for KRN23 approval from European Medicines Agency

Ultragenyx has announced that "the European Medicines Agency (EMA) has accepted for review the Marketing Authorization Application (MAA) for KRN23 for the treatment of X-linked hypophosphatemia (XLH). The MAA was filed and accepted in late 2016, and an opinion from the Committee for Medicinal Products for Human Use (CHMP) is expected in the second half of 2017."

You can read the full press release here: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1006547

Ultragenyx filing for regulatory approval of KRN23 in 2017

According to a new press release from Ultragenyx Pharmaceutical, there are plans to file for approval of KRN23 in the US in the second half of 2017. An application is expected to be filed even sooner (around the end of 2016) for Conditional Marketing authorization in Europe.

You can read the entire press release here:
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=998128

Also of note in the press release is the following: "Data from the Phase 3 study in adult XLH patients expected in the first half of 2017. The fully-enrolled Phase 3 study will evaluate change in serum phosphorus levels, pain, stiffness, physical function, and safety of monthly KRN23 compared with placebo over 24 weeks in 134 adult XLH patients."

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: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=995543

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:
https://clinicaltrials.gov/ct2/show/NCT02915705?term=xlh&rank=6

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.

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: https://clinicaltrials.gov/ct2/show/NCT02915705?term=xlh&rank=6

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.

Breakthrough therapy designation for KRN23

Ultragenyx Pharmaceutical has received "Breakthrough Therapy" designation from the U.S. Food and Drug Administration (FDA) for KRN23 for treatment of XLH in pediatric patients. http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=977346

This is not the same as getting FDA approval to make the drug available to patients outside a clinical setting, but it is an acknowledgment that KRN23 is the first potential treatment option in development for patients with XLH. The designation is intended to expedite the development and review process when the preliminary clinical evidence indicates that the treatment may demonstrate substantial improvement over existing therapies.

Getting this designation is encouraging news, since it removes some of the delays inherent in governmental reviews, while still providing for patient safety by carefully weighing the benefits and risks.

Ultragenyx Patient Day 2016

Ultragenyx Pharmaceutical sponsored its annual Patient Day in Novato, California this past weekend for patients with the rare medical conditions that the company is working on treatments for, including XLH. It was a chance for patients and their families to hang out and enjoy the entertainment with people in similar medical circumstances.

Network President Bill Coogan, immediate Past President Becky Mock, and Board members Chris Younger and Kathy Buchanan were all there to mingle with approximately thirty members of the XLH community. They reported that the event was a huge success, topped off with a musical appearance by Michael Franti who had everyone on their feet and dancing.

Bill Coogan reports that there was a solid turn-out of both patients with rare disorders and Ultragenyx personnel. Dr. Kakkis (CEO and President of Ultragenyx) and the mayor of Novato were also both present. Bill enjoyed chatting with the XLHers there, reconnecting with some, and meeting others for the first time.

Pictures are over at the official facebook page: facebook.com/xlhnetwork

On participation in clinical trials

If you don't already know about the clinical trials of KRN23, there are two Phase 3 trials going on now for adults, and we expect that there will be a Phase 3 pediatric trial beginning sometime this year. Check back for updates here, or in our discussion platform, forum.xlhnetwork.org or at our official facebook page: facebook.com/xlhnetwork.

You can read more about the current adult trials here:
https://clinicaltrials.gov/ct2/show/NCT02526160?term=XLH&rank=1
and here:
https://clinicaltrials.gov/ct2/show/NCT02537431?term=XLH&rank=2

Scroll down to the link to "show study locations" for contact information.

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 wondering about the experience of a clinicial trial generally, however, we have some insight to share from an XLHer who has participated in clinical trials in the past. He is a male college professor and in his fifties now.

In response to a question about why he enrolled in a clinical trial, he stated he had several reasons, including intellectual curiosity. He added, "As a middle-aged XLHer, any treatment is probably too late for me, but perhaps I can make some type of contribution to 'pay it forward' for future generations that include my two sweet daughters."

He also found the experience educational. He reported, "During the intake process I had the opportunity to meet another XLHer who was being discharged. This individual, a male who was about 30 years younger than me, was unable to walk. We chatted, somewhat awkwardly because of the variance in the extent of our shared illness. It was evident to both of us that his health was visibly and significantly more profoundly affected by XLH than mine. I almost started feeling like an imposter despite the fact that I have had 8 osteotomies. The fact remained: I was standing upright and he was bedridden when not in a wheelchair. It was then that I truly understood the range in the severity of XLH."

This particular member was also in a unique position to be able to use his experience as a teaching moment to educate others: "The best part of my participation in the research trial involved my teaching an online summer graduate research methods class. The students and I 'met' online via conferencing technology. When we began the chapter on Experimental Research, which happened to fall during the time when I was in the hospital for the clinical trial, I had an idea for providing the most authentic learning experience. During our online class discussion, I turned on the web camera and allowed the students to see me, the lab rat, sitting in a hospital bed. I wish I could have seen all 25 of the reactions to this stark reality and authenticity resulting from the true visualization of Experimental Research in action. Several of the students did use the chat window to type things like, 'Wow!' 'Incredible,' and 'You are very dedicated to what you teach!' Two months later I received the highest course evaluations I had ever received in the 5 years I have been teaching research methods."

The only challenges this member experienced were those involved with travel planning, but he reports that the staff who made the arrangements were very helpful.

Ultragenyx Patient Day registration is open

Registration (and scholarship applications) is open now for Ultragenyx Pharmaceutical's Patient Day, designed to honor patients (children and adults) with rare diseases, including XLH. The event will be held on May 21, 2016 in Novato, California.

Please note that this event is NOT the same as XLH Day. This one is hosted by Ultragenyx, not the XLH Network, but we expect that there will be several XLH patients there, and so will the Network's new president Bill Coogan.

The event is free and travel scholarships may be available, but in limited quantities, so apply soon if you're interested.

XLHers who are in Phase 3 of the KRN23 trials may NOT attend the event. All others may, including those who are/were in Phase 2 KRN23 trials.

For more information, check out http://events.r20.constantcontact.com/register/event?oeidk=a07ebync7o9b249d3e0&llr=orxhodsab

Ultragenyx Patient Day

Last year, several of our members went to Ultragenyx Pharmaceutical's Patient Day, designed to honor patients (children and adults) with rare diseases, including XLH. If you'd like to go this year, it will be held on May 21, 2016 in Novato, California.

Please note that this event is NOT the same as XLH Day. This one is hosted by Ultragenyx, not the XLH Network, but we expect that there will be several XLH patients there, and so will the Network's new president Bill Coogan,.

The event is free and travel scholarships may be available, although registration hasn't begun yet. We'll let you know when we hear that registration and the scholarship application process have opened.

Pediatric KRN23 trials update

A recent press release from Ultragenyx Pharmaceutical contains encouraging results from the KRN23 pediatric clinical trials, including this quote from our Scientific Advisory Board member Thomas O. Carpenter, M.D.:

"The recent data from the KRN23 experience in pediatrics are compelling, with sustained improvements in biochemical and radiographic measures beyond those achieved in most patients with standard therapy. Gauging from this response, and the preferences of the patients and families themselves, the drug has great potential to change the treatment paradigm for XLH," commented Tom Carpenter, M.D., the lead investigator in this study.

You can read the whole press release here: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=945146

Adult Clinical trials are recruiting

We just learned that the Phase 3 clinical trial of KRN23 for adults is recruiting now. You can get the details and contact information here: https://clinicaltrials.gov/ct2/show/NCT02526160?term=xlh&rank=1

U.S. locations are: California, Connecticut, Indiana, North Carolina and Texas.

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.

Ultragenyx Patient Day

A report from Network President Becky Mock on last month's Ultragenyx Patient Day:

Ultragenyx hosted their second annual Patient Day on Saturday April 11, 2015 in sunny Novato, California. Approximately 68 XLHers and their family members joined other rare disease groups and Ultragenyx employees to celebrate the challenges and sacrifices that rare diseases patients make every day. The event was lots of fun with wonderful food and drinks, clowns, a video game truck, bouncy houses for the kids and a wall mural for self expression. 

Ultragenyx CEO, Dr. Emil Kakkis, and four individuals affected by rare diseases, including our own President, Becky Mock, made presentations about their particular disease. The Ultragenyx tradition of naming conference rooms for people affected by rare conditions was carried on at Patient Day with one of the conference rooms being dedicated to Becky, in honor of all those affected by XLH. 

A final highlight of the day was a special performance by the 70’s rock band, Three Dog Night, including their hits Old Fashioned Love Song, One, a new powerful song called Prayer of the Children, and of course, Joy to the World!

XLH Network members enjoyed the festivities and appreciated our selection for the special honor of a conference room named for all those affected with XLH.