Save the Date: Rare Disease Day 2018

How will you be participating in Rare Disease Day this year? It's just one month away, on February 28. You can help spread awareness of rare diseases generally and your own rare disease in particular by downloading our toolkit and becoming a Rare Disease Day Champion. You can also #shareyourrare at Facebook by adding a Rare Disease Day frame to your Facebook profile here: ow.ly/5jot30hSp3C

This year, Rare Disease Day is particularly focused on the importance of research. We all know about one potentially life-changing result of research (burosumab), but there's lots more going on. Just recently, we saw the results of a study on whether conventional treatment (phosphorus and calcitriol) can help with bone density: "Continuing conventional medical therapy in adulthood, although associated with increased bone resorption, does not promote or prevent loss of bone mass as evidenced from the stable aBMD of the hip and spine in XLH patients."

This was a study with just 27 patients, only 11 of which were on conventional medical therapy, so more data is needed to confirm the conclusion. Nevertheless, the conclusion is consistent with what most patients already know, namely that conventional treatment has some benefits for adults, but is far from a cure! And we need more research on this and related topics.

You can read more here: "Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia: A 6-Year Prospective Cohort Study." in Calcified Tissue International November 2017 https://www.ncbi.nlm.nih.gov/pubmed/29143140

And then go check out our toolkit so you can plan how you'll be spending Rare Disease Day, advocating for more research for all rare diseases. It's time to #showyourrare!

More patients with joint replacement surgery

We previously shared information about a research survey for XLH patients who have had joint replacement surgery.

Here's the gist of the project: "We [the researchers] are seeking men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement to participate in an online questionnaire in exchange for a Starbucks gift card. The purpose of this questionnaire is to learn more about joint replacements in patients with XLH. With the information gathered, we will be able to educate clinicians about joint replacements in patients with XLH."

The researchers have had some response, but could use some more, and have expanded the criteria for eligibility, so that patients previously ineligible may now be eligible. In particular, those who are in clinical trials now are eligible. Accordingly, if you didn't do the survey before and you're interested in sharing your joint-replacement experiences with researchers now, here's the official announcement (and make sure to read the full announcement in the link below):

We are currently accepting new submissions from patients who are either enrolled, or not, in a clinical trial! If you were previously excluded because of your involvement in a clinical trial and you are interested in participating in this very important assessment of pain and joint health, please complete the survey using the updated link below.

Additionally, if you have attempted the survey previously but have not completed it, you can restart the survey using the same link below.

If you could not take the survey because you had a joint replacement within 6 months, please take the survey as soon as you pass the 6-month mark.

Thank you for your participation!

http://quinnipiacmed.qualtrics.com/SE/?SID=SV_6n9bQ8DOWPiITvT

Questions?

Contact: XLHPainStudy@Quinnipiac.edu or (203) 582-4053

*If you have already successfully completed the survey, there is no need to resubmit your response.

NOTE: As always, the XLH Network, Inc. does not endorse or critique specific research, 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 documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.

Molars, bicuspids and canines, oh my

A while back, we asked for your teeth. No, not the ones still in your jaw, but the ones that came out for one reason or another.

We got quite a few, but now we need more!

SAB member, Carolyn Macica, PhD., and her study team have processed the teeth that were sent to her before by generous XLHers. They've already made some interesting findings about the mineral content in XLH teeth, which may be useful for understanding the mineral content of XLH bones.

Now she's looking to expand on those initial studies and would be grateful for any additional teeth that could be sent her way. They can be baby teeth if you have a child with XLH, or adult teeth if you're having them removed for some reason.

The address to mail them is:
Dr. Carolyn M. Macica
Frank H. Netter School of Medicine
Quinnipiac University
275 Mount Carmel Avenue, NH-MED 311H
Hamden CT 06518

Research into XLH adults' issues

Two news stories relevant to XLHers were included in the Quinnipiac University's magazine recently, and you can read them here: http://www.quinnipiac.edu/prebuilt/PDF/Magazines/QU_fall15/Quinnipiac_Fall_2015_Bracing-for-Impact.pdf

The first one is about a relatively new technique for leg-straightening surgery that was used on an adult with XLH to apparently good effect. 

The second one is about the gait, mobility and range of motion study led by our Scientific Advisory Board Chair, Carolyn Macica, PhD, and featuring member Marina Velazquez. 

Smaller-scale research like Dr. Macica's that can be funded via seed grants is something we'd like to support in the future, especially since governmental sources of funding are drying up. To do that, we need to increase our budget. Can you help with a potentially tax-deductible contribution during our year-end campaign? If so, please donate now: https://donatenow.networkforgood.org/xlhnetwork?code=donate%20page

XLH in medical journals

The Journal of Clinical Endocrinology and Metabolism recently ran an article co-written by Scientific Advisory Board member Thomas O. Carpenter, MD, entitled "Conventional Therapy in Adults with X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease." You can read the abstract here http://press.endocrine.org/doi/full/10.1210/JC.2015-2199 The remainder of the article is behind a paywall, but your doctor will likely be able to access it if you provide that link. Also, the link will take you to instructions for requesting a copy from the publisher.

The conclusion of the article: "Treatment [with phosphorus and a vitamin D metabolite) in adulthood may not promote or prevent enthesopathy [calcification of soft tissues]; however, it may be associated with a lower risk of experiencing severe dental disease." J. Clin. Endocrinol. Metab 100: 3625-3632, 2015.

Accompanying that article was a commentary piece by another SAB member, Michale J. Econs, MD, entitled "Conventional Therapy in Adults with XLH improves Dental Manifestations, But Not Enthesopathy." Again, you can read a portion of it (and find instructions for obtaining a full copy) here: http://press.endocrine.org/doi/abs/10.1210/jc.2015-3229

While the conclusion (that conventional treatment of adults is unlikely to reduce the risk of enthesopathy) is less than encouraging, the good news is that the article and the commentary both document the fact that adults with XLH do, indeed, have ongoing symptoms, i.e., dental abscesses and enthesopathy. Getting this fact on record, in peer-reviewed, highly regarded medical journals is a slow process, but one that is critical for educating physicians who seldom see an XLHer and are unaware of the adult symptoms.

Thinking out loud

Today's post is by Gin Jones, wearing her "member at large" hat, and not on behalf of the entire Board. I'm just sharing some thoughts that keep me awake in the middle of the night. I don't have any answers, but all discovery starts with questions.

There's so much about XLH that isn't known, so many questions to ask researchers to look into. Some of that work has begun, like the Gait, Mobility and Range of Motion Study by our Scientific Advisory Board Chair, Carolyn M. Macica PhD, and her student at Quinnipiac University's Frank H. Netter M.D. School of Medicine, Eva Amenta, who's examining bone mineral composition and tooth structure in XLH patients as a biological surrogate for bone mineral.

What else would I like to see investigated? So many things! To keep the list manageable, I'll start with three topics across a range of symptoms.

First there's hearing loss and tinnitus (ringing in the ears). There's been some speculation that since hearing is a function of small bones in the ear, and our bones are affected in a variety of ways, perhaps we're at risk of hearing loss. Is there a higher incidence of hearing loss and tinnitus among XLH patients, and if so, what's the underlying cause and what can be done to minimize the risk?

What about our diets? We know that our bone problems are not caused by a nutritional insufficiency, like the rickets caused by lack of vitamin D intake. But are there foods that could help (or hurt) our limited ability to mineralize our bones? What about interactions between certain foods and the phosphorus and calcitriol we take?

And finally, I'd love to see more crossing of lines between different conditions. I recently ran across an article on achondroplasia (a form of dwarfism in which the cartilage during early development isn't properly converted to bone, especially in the arms and legs, with resulting short stature), which has a different biochemical cause, but some of the same bone-related symptoms as XLH. Apparently spinal stenosis is common, even in children with achondroplasia, and, as in XLH patients (where the stenosis is frequently seen in adulthood), no one knows exactly why the stenosis occurs. Perhaps researchers could compare notes on the two conditions and get to a better understanding of the biochemical processes involved in bone formation and the calcification of cartilage.

That's enough to think about for one day. If you've got questions you'd like to see researchers answer, please share them with me: GinJones at xlhnetwork.org  I could use some new material to gnaw on during my sleepless nights.