Wednesday, March 26, 2014

Cinacalcet study

Elevated parathyroid hormone (PTH) levels, or "hyperparathyroidism" is a common symptom for many XLH patients. A drug known as Cinacalcet, which is generally used for the hyperparathyroidism of chronic kidney disease patients, is sometimes prescribed to XLH patients to lower our PTH levels.

Since the use of the drug by XLH patients wasn't officially studied prior to the drug's approval, it's considered an "off-label" use, which raises a number of issues. First, insurance companies can be reluctant to pay for off-label use. Second, not all doctors treating XLH patients even know that it's an off-label use. Third, and most important, scientists don't even know for sure that it's effective on our form of parathyroidism, what an optimal dose is, or whether it might also help reduce our phosphorus wasting.

Dr. Rachel Gafni, at the National Institutes of Health, has been studying the use of Cinacalcet specifically in XLH patients. Until recently, the study was only open to patients living within a fairly small radius of D.C. The study has been expanded recently to include patients from all over the U.S., with travel expenses to be reimbursed according to NIH guidelines.

Information provided by the principal investigator, with contact information:

  • NIH Research Study: Open-label Dose-titration Study of the Tolerability and Efficacy of Cinacalcet to Treat Fibroblast Growth Factor 23 (FGF23)-mediated Hypophosphatemia
  • Principal Investigator: Dr. Rachel Gafni, MD
  • Sponsoring Institute: Craniofacial and Skeletal Diseases Branch, NIDCR, National Institutes of Health
  • The purpose of this study is to see how treatment with a drug called cinacalcet affects people with low blood phosphorus (hypophosphatemia) caused by hypophosphatemic rickets or tumor-induced osteomalacia. Studies have suggested that cinacalcet may decrease phosphorus loss by the kidneys in these disorders. If the cinacalcet works, the blood level of phosphorus may be higher. This could result in patients needing less phosphorus medication. It may also help the bones become stronger.
  • This study will help us figure out the best dose of cinacalcet and how many times a day it should be taken.  Individuals who qualify for the study will take cinacalcet in addition to vitamin D and phosphorus.  Many of the study visits will be at the NIH Clinical Center in Bethesda, Maryland. Some of the blood and urine tests may be done at a facility that is closer to the patient’s home. There will be up to 3 inpatient visits and a number of outpatient clinic and lab visits. 
  • Once cinacalcet therapy is started, there will be 3 - 5 visits with a physician every 3 weeks over a 4- to 7-month period. During the NIH visits, participants will undergo several assessments, which may include a dental evaluation, blood tests, urine tests, x-rays, and questionnaires. Patients will be paid for participation in this study and will be reimbursed for travel expenses, according to NIH policy. You may be eligible if you are between 18 and 70 years of age and have been diagnosed with low blood phosphorus. For more information, please contact the NIH Patient Recruitment and Public Liaison hotline at 1-800-411-1222 or

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 advisers, 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.

Monday, March 24, 2014

Support for science funding

We can't all go to D.C. (or other governmental centers) and meet with our legislators, the way Becky and I did a few weeks back, but we can all make our voices heard.

Congress is working now, through the end of the month, on the next year's budget for various agencies, including the National Institutes of Health and the National Science Foundation. These agencies are responsible for funding a great deal of basic science research, the sort of work that won't get done unless the government funds it.

You probably know that this sort of research has been hampered by governmental cutbacks since the recession, and also that XLH research, in particular, was on a promising path since the discovery of FGF23 shortly before the recession, but research had slowed due to NIH/NSF funding cuts, and there's a great deal more to learn about FGF23 and XLH.

I wouldn't know what to ask for when it comes to funding research, but fortunately there's FASEB (Federation of American Societies for Experimental Biology), which is a coalition of biomedical researchers and scientific societies, "recognized as the policy voice of biological and biomedical researchers," and they do know what to recommend. They're recommending a number that, while huge for individuals or even mega-corporations, is actually quite modest in the context of the federal government budget. Their recommendation is $32 billion for NIH and $7.6 billion for NSF, which would restore the funding that was cut from prior years' budgets and get us back on the path to sustained scientific research.

You don't need to remember all that, or even figure out who to call or write to. The ASBMR (American Society of Bone and Mineral Research) has made it easy for U.S. citizens to send a form letter (or edit it as you wish) by going here . All you have to do is fill in your name and contact information, and then hit Send. If you have friends and family who are concerned about adequate government funding for basic science research, feel free to pass along the link, so they can contact their legislators too.

Just remember: now's the time to act, if you want your legislator to meet the end-of-month deadline for supporting science research.

Wednesday, March 19, 2014

Meet Board Director, Ollie Gardiner

This is the first in a series of interviews of the people who are working on behalf of the members of the XLH Network, Inc., either as officers/directors or as scientific advisors.

Today, I'd like you to meet Oliver (Ollie) Gardiner. He is originally from Oxford, and now resides in London, UK. He is a professional video editor, working in design and website design. He has extensively exhibited work as an artist around the world.

Between his day job and his work for the XLH Network, Ollie's a busy guy (and so are you), so we're keeping the interview brief, with just three questions:

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

XLH is well rooted into our family, inherent in twelve family members spanning through four generations. As I've seen the many faces of XLH, my involvement in the XLH Network stems after finding out that some XLHers may never meet another. As I’ve found my family to be most important as we go through treatment, I could see there was a clear opportunity to help more people connect with one another.

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

I think I would prefer to be a superhero like Batman, who doesn't have superpowers per se, but who relies on his intelligence and use of the right tools to get the job done.

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

I'm working with the University of Oxford as lead patient for the XLH community in the UK as they've recently been awarded funding to establish a new study, known as the "Rare UK bone, joint and blood vessel Disease study (RUDy)." With the introduction of new treatments this study will become ever more paramount in our global community. As these are the early stages of the study, stay tuned for more information. 2014 is an exciting year for us all.

Wednesday, March 12, 2014

A Different Kind of Advocacy

The last couple weeks, we've been focused on advocacy at the macro level, working with researchers and politicians. There's another kind of advocacy at the more micro level that we need to do. Rachael Jones (no relation to Gin Jones), herself an XLH patient, and the parent of a XLHer, is our guest blogger today, sharing her thoughts on advocating for the best interests of a child with XLH.

Our two-year-old son was diagnosed with XLH when he was a year old. We started having him tested when he was three months old, thinking that the diagnosis would come quickly, given the family history. It still took several months to determine for sure that he has XLH. 

While getting the diagnosis, and since then, with treatment, we have had to be our son's health care advocate. At times, it's been quite challenging, but we understand that nobody else is going to advocate for our son, so we must. We have had to travel a lot and reach out to XLH experts in order to determine if the course of treatment that our son is on is the best for him. We live in a small town, but we are willing to travel as far as we need to in order to find someone who either has knowledge of XLH (which is rare) or who is willing to learn. 

We've found that being responsible parents can be quite stressful. There were times when our son was younger that the medical professionals had difficulty finding his veins and had to poke him several times before they could find a vein. It was heartbreaking to see our son cry and hold his arms out to us to pick him up and take him away from the pain, but we knew we needed to get these blood tests done. My husband and I are learning that being parents, and especially parents of a child with XLH, means that sometimes we have to do the hard things in order to do what is in the best interest of our child.  

We still have his blood drawn every three months to make sure his levels are within an acceptable range, but it has become easier. I think he has to be one of the bravest two-year-old boys. Now when we walk into the lab he asks if he is going to get an “owie,” but he doesn't cry. Afterwards, he goes around showing everyone his colorful band-aid.

In advocating for our son, we searched online and found the XLH Network. I was born with XLH (as were my mother and brother), but had never found good information. I also connected with others with XLH through the list-serve and even attended the XLH Day in September. It is nice to know that my husband and I are not alone in this journey. We feel a sense of community and support from the XLH Network as we try to advocate for the best treatment for our son. 

Wednesday, March 5, 2014

Advocacy with ASBMR

It's easy to think of politicians as ignorant or foolish or self-aggrandizing, and I'm about as cynical as anyone, so I was pleasantly surprised by the experience of visiting Capitol Hill to advocate for sustained funding for basic science research at National Institutes of Health. I went to the offices of Elizabeth Warren, Ed Markey and Joseph Kennedy. Their staff members (including some with medical training) were all well-informed and passionate about both their legislative work in general and supporting the NIH in particular.

The meetings were organized by the American Society for Bone and Mineral Research. Network President Becky Mock and I were assigned to different teams to go to the offices of Senators/Representatives from our state (or nearby). My team consisted of Roland Baron, DDS (Harvard School of Dental Medicine), Beate Lanske, PhD (also with the Harvard School of Dental Medicine), and Lisa Samelson, PhD (Harvard Medical School, Institute for Aging Research).

Dr. Baron, who is in the middle of what is already a distinguished career, was particularly concerned about the lack of financial stability for younger researchers starting their careers today, and worried that this instability would deter the best and brightest students from pursuing a career in scientific research. Dr. Lanske echoed this concern, and focused on the real-world consequences to patients like me if there's a suspension of research. Dr. Samelson kicked off each of our presentations with facts and figures about the costs of NOT funding research into bone metabolism (e.g., not developing better methods of preventing and treating osteoporosis), especially with the elderly population growing rapidly.

The legislative offices I attended were all very supportive of NIH funding, and sympathetic to our requests. Even so, we were able to point out some features of medical research and living with a rare disease that they found noteworthy, and that they might be able to use to persuade less sympathetic colleagues.

One of the things that appeared to strike a chord with the staff members, and that they will likely remember, came out of the fortuitous pairing of Dr. Lanske with me, as an XLH patient. We formed a sort of tag team, demonstrating both the technical and the personal sides of research. Dr. Lanske has been studying the hormone that goes haywire in us, FGF23, almost since the hormone was first discovered (about a dozen years ago), but she's been working with mice, and had never met a human with XLH  before this event. You can imagine how thrilled she was to meet not just one, but two of us!

The legislative staffs weren't the only ones who got an education during this event. I didn't know just how much research is happening in the bone metabolism field, or the struggles that young investigators are experiencing. I'd also never thought much about patient registries, but Dr. Samelson (an epidemiologist whose first thoughts always involve data collection) has me thinking about the subject in the context of the XLH Network.

In summary, I'm not being cynical, just realistic, to acknowledge that no single meeting is going to change the future of medical research. Still, I believe it's important for the XLH Network, along with other patient support groups, to keep reminding the budget-makers of the absolute necessity to support basic medical research, the type of research that simply won't get done if government doesn't support it.

Our president, Becky Mock, is particularly committed to doing this kind of advocacy on our behalf (and is a brilliant networker). She's looking into expanding our advocacy work at both the national and local levels. I'm sure she'd love to hear from you if you'd like to become involved too, or if you know of any opportunities for our voice to be heard.