The next generation

During XLH Day, our Scientific Advisory Board offered special recognition to a high school student, Lindsay Peifer, for her dedication to science.

Lindsay's XLH was confirmed by DNA testing and is spontaneous, which, she says, is "pretty obvious because I'm a full foot shorter than the rest of my family."

Like many other XLH patients, she grew up with many hospital visits to see specialists and had corrective surgeries, but unlike many others, she became fascinated with biology and the health sciences, especially genetics. In high school, she worked with the Network's Scientific Advisory Board chair, Carolyn Macica PhD, and John Sterpka to find her specific gene mutation by extracting my DNA from her cheek cells and preparing it for sequencing. She then presented her project at her school’s symposium and was interviewed by a local news station. She plans to study pre-medicine and genetics, cell biology, and development at the University of Minnesota, Twin-Cities, so she can help other people with rare diseases in the future.

During XLH Day, she did a presentation that addressed how she became interested in science in the course of trying to understand her own health, and then laying out what she'd learned in the course of her school project.

Representing the XLH community

Even as we're recovering from an amazing XLH Day in Houston, Texas (more on that next week), we're gearing up to represent the XLH community at other events this fall.

First up is the American Society for Bone and Mineral Research (ASBMR) annual conference in September, to be held this year in Atlanta. You can read about it here: http://www.asbmr.org/annual-meeting

We are part of the Rare Bone Disease Patient Network, which will have a booth at the conference, and is involved in a workshop that will include brief talks on a number of rare bone diseases. The section on XLH will be presented by the Network's Scientific Advisory Board member, Suzanne Jan deBeur.

Karl Insogna, MD, will be one of several doctors talking about "How Discoveries Lead to Treatment of Rare Bone Disease Treatment." His presentation will be focused specifically on XLH in adults.

In addition, several members of our Scientific Advisory Board will also be there for posters and/or presentations, and we'll report back on the details after the event.

Rare Disease Day 2016

Next Monday, February 29th, is World Rare Disease Day.

Network board member Gin Jones will be part of a Rare Disease Day panel discussion at Simmons College, from 6 to 8 pm in the School of Management Building, Room M201. The public is welcome, and for more information, you can contact prehealth-liaison@simmons.edu

Also that day, Scientific Advisory Board member Carolyn Macica PhD is involved with the Second Annual Rare Disease Day event at Quinnipiac University from noon to 4 p.m. Pre-registration is required (no later than February 27), but is free: http://www.eventbrite.com/e/rare-disease-day-quinnipiac-university-2016-tickets-20780130931 The agenda includes a performance by Nora Johnson, a patient panel, and keynote speaker Dr. Frederick Kaplan.

For events in other locations, check out http://www.rarediseaseday.org/events/world

Meet new SAB member Maya Doyle

1. How did you get involved with the XLH Network and its Scientific Advisory Board?I met Carolyn Maccica during my first week teaching in the Department of Social Work at Quinnipiac.  A colleague knew that I had done my doctoral research with a rare disease group - cystinosis - whose patients experience rickets in childhood. One of the patients I know well has written a book called Rollerskating with Rickets (which I highly recommended) that is full of wonderful essays about her experience living with a rare condition.  That book was sitting on my desk when Carolyn walked into my office for the first time, and we started to trade notes on our disease specialties. We immediately started to talk about the XLH study she was working on, and I immediately wanted to include a qualitative piece about the experience of those who are living with XLH as adults.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the SAB?While most of my clinical experience as a social worker has been in pediatrics, my research interests are in the psychosocial impact of chronic and rare disease across the lifespan for both patients and families, and particularly the transition to adulthood and adult-oriented care for those diagnosed in childhood. I am a qualitative researcher by training, so my goal is always to bring the voice of patients and families back to the clinicians , researchers, foundations and industry that interact with them.

3. What XLH project are  you working on now that you're particularly enthusiastic about?I am in the process of analyzing the data from interviews and surveys that were conducted with adults with XLH at Quinnipiac in 2015, and look forward to sharing those findings with the XLH community!

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

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.

Report from ASBMR

Members of the Network's Scientific Advisory Board were active at the annual conference of the American Society for Bone and Mineral Research (ASBMR) in Seattle this year.

SAB member Suzanne Jan de Beur, M.D., was the recipient of this year's Shirley Hohl Service Award at the conference. The award is given to an individual whose activities best represent the dedicated and unselfish devotion in service to the ASBMR and its mission and goals. The official press release is here: https://www.asbmr.org/Publications/News/NewsDetail.aspx?cid=0cb27ab8-0484-4ffe-a5be-0398bfcdd413#.VhhPaflVhHw  Network President Becky Mock and Treasurer Geoff Edelson were there to cheer her on.

SAB chair Carolyn Macica, PhD was on several panels, including one on a subject that many of us know a little too well, but is just starting to be documented in the medical community: "Pain Resulting From Unresolved Skeletal Disease Has a Significant Impact on the Daily Function of Adults with XLH."

SAB member Thomas Carpenter, MD, was also on several panels, including one with fellow SAB member Raghbir Kaur DMD, on the use of traditional treatment in LXH adults and its effects on enthesopathy and teeth.

SAB member Michael Econs, MD was also on several panels, although none were directly relevant to the XLH community.

Study of Mobility, Gait, ROM & QOL

Our Scientific Advisory Board chair, Dr. Carolyn Macica, is the lead investigator in a new research study of XLH patients, looking into mobility, gait and range of motion issues. She's looking for adult volunteers with XLH.

Here's the official announcement, sent to us by Dr. Macica:

Study of Mobility, Gait, Range-of-Motion and Quality of Life in Patients with X-linked Hypophosphatemia

We are seeking 40-65 year old men and women with X-linked Hypophosphatemia (XLH) to participate in a research study at Quinnipiac University (Frank H. Netter School of Medicine, North Haven, CT). The purpose of this study is to learn more about the impact of XLH on the daily life and activities of adults with XLH. Using the information we learn from this study, we expect to gain a better understanding of the day-to-day challenges facing adults with XLH and, ultimately, hope to develop evidence-based strategies that lessen the burden or even help overcome these challenges.

STEP 1: To see if you are eligible for this study, you will be asked to answer several questions about your XLH and physical activity.

STEP 2: The study team will review your answers (consisting of Dr. Macica, a radiologist, physical therapists, an occupational therapist, and a social worker). If you are deemed eligible, they will invite you to participate in the study.

STEP 3: If you choose to participate, you will be asked to come to the Netter School of Medicine in North Haven, Connecticut and will undergo:

i) an x-ray to assess your bone and joint health; ii) measurements of your arm and leg muscle strength, and of your joint range of motion; iii) measurements of the way you walk, your posture, and your balance in the Motion Analysis Lab at Quinnipiac University; and iv) completion of survey materials and a one hour in-person interview and to assess your well-being as it relates to the impact of XLH on your day-to-day activities.

The study does not involve the use of needles or invasive procedures, and all aspects of it can be completed in about 4-5 hours during a single visit. Selected students, who are training in the health professions, will also observe and participate in the study as part of their academic experience and to learn more about rare bone disorders.

Cost of travel and lodging will be covered for patients who qualify for this study. As a token of our appreciation, eligible participants who complete the study will also receive a $50 payment using a generous donation from the The XLH Network, Inc.

This study will also include an additional online survey for individuals 18 and older, to better understand the experience of living with XLH as an adult, and the transition to adulthood and adult-oriented care for those diagnosed in childhood.

Study HIC#: 5414

Principal Investigator: Dr. Carolyn M. Macica

Patient coordinator: Erika J. Parisa

Contact information: XLHstudy@quinnipiac.edu

AND A FINAL NOTE FROM THE XLH NETWORK: As always, the XLH Network, Inc. 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 discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.

XLH Video won Telly award

The video on Growing Up With XLH (which you can see here) was entered in the Telly Awards, which "honors the very best film & video productions, groundbreaking online video content, and outstanding local, regional & cable TV commercials and programs."  

And it won the bronze award in the Health & Fitness category!

Board Member Bill Coogan went to Quinnipiac University to meet with the people behind the video's production, which included the Network's Scientific Advisory Board's chair, Dr. Carolyn Macica, Peter Gallay (holding the Telly Award) and Justin Schussler. Peter led the video team, which included Justin Schussler, Michael Vaspasiano, and a student intern, Justin Hall. The video has been viewed in excess of 1,700 times since April.

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.

Rare Disease Week

The last day of February each year is World Rare Disease Day. This year, it falls on February 28th.

Here in the U.S., several medical-professional and patient-support groups have gotten together to make the entire week into a time of awareness and advocacy for rare diseases. Today, representatives from the American Society for Bone and Mineral Research are meeting with legislators in D.C. as part of this awareness and advocacy work.

Two of the Network's scientific advisers, Suzanne Jan de Beur, M.D., and Michael Econs, M.D., will be attending some of the events, and so will Network President Becky Mock and Director Gin Jones.

Check back next week for an update on the experience.