Wednesday, May 28, 2014

21st Century Cures Initiative

“There are 7,000 known diseases. We have treatments for only 500 of them. We have work to do.”

That's according to Margaret Anderson, the executive director of  FasterCures (a center of the nonprofit Milken Institute), 

It's not clear whether XLH falls in the group of 500 with a treatment or the group of 6,500 without a treatment (we do have a treatment, but it's far from a cure), but either way, we all -- policymakers and scientists and patients -- have work to do to find something at least approximating a cure for XLH and other rare diseases, sooner rather than later. 

Government isn't the answer to everything, but it can lend a helping hand. The U.S. House of Representatives is working on a program known as the "21st Century Cures Initiative," which you can read more about here. For the next couple weeks, until June 13th, they're soliciting feedback, especially from patients, about "the state of biomedical research and therapeutic innovation for specific diseases and better understand how Congress can help move the ball forward." 

Some of the questions being asked by the Initiative are directed at patients, and address issues that XLH patients live with every day. The three that may be of particular interest to XLH patients are:

  • What is the state of discovery of cures and treatments for your disease? Are there cures and treatments now or on the horizon? 
  • How can Congress incentivize, coordinate, and accelerate basic research for diseases we know relatively little about? 
  • How can we work together to better translate advances in science into safe and effective new therapies for patients? 
  • What is the financial burden of your disease? How would better treatments and cures help save money for your family and the federal government? 

If you're a U.S. citizen and have any thoughts that you'd like to share about encouraging advances in basic science and finding 21st Century Cures, you can email your comments, by June 13th, to 

Wednesday, May 21, 2014

Meet Vice-President Bill Coogan

1. How did you get involved with the XLH Network, and then how did you become an officer of the organization? 

In February 2011, a round-table meeting was conducted at the Yale New Haven Hospital facility. Members of the Board of Directors were in attendance personally or via telephone. Besides Board members, people (members of XLH Network, family and friends of people with XLH ) who were interested in the direction the XLH Network, Inc. was headed in (and wanted to help in some way) were in attendance.

When the round-table meeting was adjourned the Board of Directors held an official Board meeting. At that official meeting I was asked by the President and Vice-President if I would consider filling the soon to be vacated position of Treasurer. My sister-in-law (who has XLH) who was on the Board turned to me and asked me to do it for her son and daughter (who also have XLH). It would have been totally unacceptable for me to say no since I was asked to do it for the sake of two people who are very dear to me. Since March 2011, I have been serving in Officer positions and being an Officer I am a member of the Board of Directors as well.

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

I don't believe that I possess a super power. Since my full time employment had been as a cost accountant for many years (I am retired now), to a certain degree it seemed natural that I would fit in reasonably well as Treasurer. My subsequent years of service to the XLH Network, Inc. has exposed me to many activities on the Board and I now currently serve as Vice-President. My ardent desire is to see the XLH Network function as a valuable asset to all those afflicted with XLH.

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

As Vice-President, I am enthusiastic about helping out in any way that I can with what needs to be done. New opportunities are opening up for us. These are exciting times and I want to assist in all of these opportunities. Each and every project that I work on, I am enthusiastic about because I know that every one of them will benefit our members in some way. That is what we are all about.

Wednesday, May 14, 2014

Article on clinical trials of KRN23

Last year, our Scientific Advisory Board member, Dr. Carpenter, won the "Most Outstanding Clinical Abstract Award" at the annual conference of the American Society of Bone and Mineral Research.

Now you can read the full article about the clinical trials of KRN23, by Dr. Carpenter and other outstanding researchers, as published in the Journal of Clinical Investigation. It's entitled, "Randomized Trials of the anti-FGF23 antibody KRN23 in X-Linked Hypophosphatemia," and is online here.

Wednesday, May 7, 2014

Follow up study of adult XLHers

If your XLH was treated at the St. Louis Shriners Hospital when you were a child, or you know anyone who was treated there, Dr. Whyte is looking for former patients, who are at least 21 years old now, to return to the facility for a research study.

The details, along with contact information, are available at our website, here. (If the link doesn't work for you, go to the XLH Network's website, and then, under the "What is XLH" tab, there's a link to "clinical trials," and if  you click on that, you'll see a listing for "Shriners Hospital for Children - A study to learn about XLH and HPP during adult life." There's a link under there to the PDF with the official information.)

The XLH Network, Inc. does not endorse or critique specific research studies, 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 informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.