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 prpl@cc.nih.gov.

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 (clinicaltrials.gov) offers some good questions to consider while deciding whether to enroll in a clinical trial.

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.

New NIH Research Study

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.   All study visits will be at the NIH Clinical Center in Bethesda, Maryland.  There will be up to 3 inpatient visits and several 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.  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 prpl@cc.nih.gov.