XLH Day 2013 Videos

We are very excited to announce the completion and availability of the XLH Day panel I and Panel 2 videos from XLH Day 2013, held at Quinnipiac University. We would like to thank Quinnipiac University and the Academic Technology staff for providing the resources necessary to document this special day. We hope you find the material educational.

The URL's are:

Panel 1 : http://youtu.be/IIAtcMGaUVU

Panel 2: http://youtu.be/ay8LdZspmco

XLH Day 2013 Photos

1. XLH Day 2013 photos are posted on the XLH Day Facebook page, or click the link below.

   
   https://www.facebook.com/media/set/?set=a.603699243021292.1073741825.199444820113405&type=1&l=151fd916dc

   
   

   XLH Day 2013 was held at Quinnipiac University on September 21st & 22nd.   To view the details of this event go to

   
   

   xlhday.com

   
   

   
   

2013 ASBMR Most Outstanding Clinical Abstract Award

1. 
   

   Dr. Carpenter, M.D., XLH Network Scientific Advisor, won the 2013 ASMBR Most Outstanding Clinical Abstarct Award at this year's American Society of Bone and Mineral Research conference.
   
   The results of the paper, PHARMACOKINETICS AND PHARMA...CODYNAMICS OF A HUMAN MONOCLONAL ANTI-FGF23 ANTIBODY (KRN23) AFTER SINGLE-DOSE ADMINISTRATION TO PATIENTS WITH X-LINKED HYPOPHOSPHATEMIA, were summarized and published by Kyowa, and can be read at the link below.
   
   Congratulations Dr. Carpenter!
   
   http://xlhnetwork.blogspot.com/2013/10/kyowa-shares-krn23-data-from-first-in.html

Kyowa Shares KRN23 Data From a First-in-Human, Single Dose Phase 1 Study

Kyowa Shares KRN23 Data

Announcement of Results from a Single Dose Phase 1 Study of a Human Monoclonal Anti-FGF23 Antibody (KRN23) in X-linked Hypophosphatemia in Adults

Tokyo, Japan, October 7, 2013 -- Kyowa Hakko Kirin Co., Ltd. (Tokyo; 4151, President and CEO: Nobuo Hanai, "Kyowa Hakko Kirin") announced that results from a first-in-human, single dose Phase 1 study of a human monoclonal anti-FGF23 antibody (KRN23) in X-linked hypophosphatemia (XLH) in adults were presented at the American Society of Bone Mineralization Research (ASBMR) 2013 Annual Meeting on October 6, 2013. A randomized, double-blind, placebo-controlled, Phase I study (US-02) was conducted to assess its safety, tolerability, pharmacokinetics and pharmacodynamics in adult patients with XLH. Thirty-eight adults with XLH were randomized to receive single doses of KRN23 or placebo via intravenous (IV) (0.003 to 0.3 mg/kg) or subcutaneous (SC) (0.1 to 1.0 mg/kg) routes.

Data were presented by Thomas Carpenter, MD, Yale University at the ASBMR 2013 Annual Meeting. The study showed single doses of either IV or SC KRN23 increased serum phosphate level compared to placebo for higher doses (p<0.01). Peak serum phosphate effects occurred later with SC (8-15 days) than with IV dosing (0.5-4 days). Duration of effect on phosphate was dose-related, greater with SC than IV, and persisted beyond 29 days with SC. Increases in renal reabsorption of phosphate and 1,25 dihydroxyvitamin D were observed. No meaningful changes in serum calcium, serum parathyroid hormone, and urinary calcium excretion occurred. The majority of adverse events were mild, and there were no serious adverse events, and no changes in safety biochemistries, electrocardiograms, or renal sonograms. No patient developed anti-KRN23 antibodies. Single dose administration of KRN23 was safe and well-tolerated.

Kyowa Hakko Kirin has a collaboration and license agreement with Ultragenyx Pharmaceutical Inc. ("Ultragenyx") to jointly develop and commercialize KRN23. Kyowa Hakko Kirin and Ultragenyx plan to continue the development of KRN23 in adult XLH patients while initiating a pediatric XLH program in 2014.

About KRN23 and FGF23
KRN23 is a recombinant fully human monoclonal IgG1 antibody discovered by KHK and being developed to treat X-linked hypophosphatemia (XLH). KRN23 is designed to bind to and thereby reduce the biologic activity of fibroblast growth factor 23 (FGF23). FGF23 is a hormone that promotes phosphate excretion by the kidney and suppresses vitamin D production. FGF23 also reduces the expression of the enzyme that is required to synthesize a hormone that normally increases renal tubular absorption of both phosphate and calcium. Therefore, FGF23 induces profound reductions in serum phosphate levels. Phosphate wasting in XLH is caused by excessive levels and activity of FGF23.

About X-linked Hypophosphatemia (XLH)
XLH is a disorder of phosphate metabolism caused by phosphate wasting in the urine leading to severe hypophosphatemia. XLH is the most common heritable form of rickets that is inherited as an X-linked dominant trait affecting both males and females, though the disease in males by some reports may be more severe. XLH is a distinctive bone disease characterized by inadequate mineralization of bone that leads to a spectrum of abnormalities, including progressive bowing of the leg, osteomalacia, bone pain, waddling gait, short stature, gross motor impairment, muscle weakness, osteopenia, frequent/poorly healing microfractures, spinal stenosis and osteoarthritis.

Most patients are managed using oral phosphate replacement and vitamin D (calcitriol) therapy, which is poorly tolerated and only partially effective at restoring bone physiology and growth. Current treatment with oral phosphate requires extremely close monitoring and can result in complications such as secondary hyperparathyroidism, hypercalciuria, hypercalcemia and nephrocalcinosis. XLH was originally called vitamin D-resistant rickets, because doses of vitamin D effective for the treatment of vitamin D-deficient nutritional rickets did not have an impact on phosphate levels in these patients.

About Ultragenyx Pharmaceutical Inc.
Ultragenyx is a privately held, clinical-stage biotechnology company committed to bringing to market life-transforming therapeutics for patients with rare and ultra-rare metabolic genetic diseases. Founded in 2010, the company is rapidly building a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no effective treatments.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx's strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.
For more information on Ultragenyx, please visit the company's website at www.ultragenyx.com.

Contact:
Kyowa Hakko Kirin
Media Contact:
+81-3-3282-1903


Posted: October 2013

XLH Network's Scientific Advisory Board presenting papers at ASBMR

XLH Network's Scientific Advisory Board members are presenting papers at this year’s American Society of Bone and Mineral Research (ASBMR) held in Baltimore Maryland, USA, October 4-7. Scientific advisors Carolyn Macica, Ph.D, Thomas Carpenter, M.D., Michael Econs, M.D., Suzanne Jan de Beur, M.D., and Peter S. N. Rowe, Ph.D., along with distinguished colleagues, are presenting papers on the following topics.

INTRACORTICAL REMODELING TO MEET MINERAL DEMANDS IN X-LINKED HYPOPHOSPHATEMIA (XLH)

Carolyn Macica*1, Richard Feinn2, Steven Tommasini3. 1Frank H. Netter School of Medicine Quinnipiac University, USA, 2Frank H. Netter, M.D., School of Medicine at Quinnipiac University, USA, 3Yale School of Medicine, USA Disclosures: Carolyn Macica, None

METABOLIC BONE DISEASE AND DISORDERS OF MINERAL

METABOLISM: IDIOPATHIC HYPERCALCIURIA, NEPHROLITHIASIS

Increased Frequency of Renal Stones and Nephrocalcinosis in Heterozygous and Homozygous Carriers of Sequence Variations in SLC34A3/NPT2c

Clemens Bergwitz*1, Monica Reyes2, Amita Sharma2, Thomas Carpenter3, Marco Janner4, Andrew Biggin5, Shamir Tuchman6, H. Jorge Baluarte7, Shoji Ichikawa8, Craig Munns5, Harald Jueppner2. 1Massachusetts General Hospital & Harvard Medical School, USA,2Massachusetts General Hospital, USA, 3Yale University School of Medicine, USA, 4University Children’s Hospital, Switzerland, 5The Children’s Hospital at Westmead, Australia, 6Children’s National Medical Center, USA, 7The Children’s Hospital of

Philadelphia, USA, 8Indiana University School of Medicine, USA

Disclosures: Clemens Bergwitz, None

PHARMACOKINETICS AND PHARMACODYNAMICS OF A HUMAN MONOCLONAL ANTI-FGF23 ANTIBODY (KRN23) AFTER SINGLE-DOSE ADMINISTRATION TO PATIENTS WITH X-LINKED HYPOPHOSPHATEMIA

Xiaoping Zhang*1, Thomas Carpenter 2, Erik Imel3, Mary Ruppe4, Thomas Weber5, Mark Klausner1, Tetsuyoshi Kawakami1, Takahiro Ito1, Jeffery Humphrey1, Karl Insogna2, Munro Peacock6. 1Kyowa Hakko Kirin Pharma Inc, USA, 2Yale University School of

Medicine, USA, 3Indiana University School of Medicine, USA, 4The Methodist Hospital, USA, 5Duke University Medical Center, USA, 6Indiana University Medical Center, USA

Disclosures: Xiaoping Zhang, Kyowa Hakko Kirin Pharma Inc, 3

2013 ASBMR MOST OUTSTANDING CLINICAL ABSTRACT AWARD

Thomas O. Carpenter, M.D.

2013 ASBMR Most Outstanding Clinical Abstract Award

A FIRST-IN-HUMAN, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, SINGLE-DOSE STUDY OF A HUMAN MONOCLONAL ANTI-FGF23 ANTIBODY (KRN23) IN X-LINKED HYPOPHOSPHATEMIA

Thomas Carpenter*1, Erik Imel2, Mary Ruppe3, Thomas Weber4, Mark Klausner5, Margaret Wooddell6, Tetsuyoshi Kawakami6, Takahiro Ito6, Xiaoping Zhang6, Jeffrey Humphrey6, Karl Insogna1, Munro Peacock7. 1Yale University School of Medicine, USA,

2Indiana University School of Medicine, USA, 3The Methodist Hospital, USA, 4Duke University Medical Center, USA, 5Kyowa Hakko Kirin, USA, 6Kyowa Hakko Kirin Pharma Inc, USA, 7Indiana University Medical Center, USA

Disclosures: Thomas Carpenter, Kyowa Hakko Kirin Inc., 2; Kyowa Hakko Kirin Inc., 5

GENETIC RESCUE OF GLYCOSYLATION-DEFICIENT FGF23 IN THE GALNT3-NULL MOUSE

Shoji Ichikawa*1, Amie Gray1, Erica Clinkenbeard2, Kenneth White1, Michael Econs 1.

1Indiana University School of Medicine, USA, 2Indiana University-Purdue University

Indianapolis, USA

Disclosures: Shoji Ichikawa, None

DOSAGE EFFECT OF A PHEX MUTATION IN A MURINE MODEL OF X-LINKED HYPOPHOSPHATEMIA

Shoji Ichikawa*, Amie Gray, Emmanuel Bikorimana, Michael Econs. Indiana University School of Medicine, USA

Disclosures: Shoji Ichikawa, None

SIBLING FAMILY GENES AND BONE MINERAL DENSITY: ASSOCIATION AND ALLELE-SPECIFIC EXPRESSION IN HUMAN

Imranul Alam*1, Leah Padgett2, Shoji Ichikawa1, Mohammed Alkhouli2, Daniel Koller1, Dongbing Lai3, Munro Peacock4, Xiaoling Xuei5, Tatiana Foroud3, Howard Edenberg6, Michael Econs1. 1Indiana University School of Medicine, USA, 2Medicine, IUPUI, USA, 3Medical & Molecular Genetics, IUPUI, USA, 4Indiana University Medical Center, USA, 5Biochemistry & Molecular Biology, USA, 6Biochemistry & Molecular Biology, Medicine,

IUPUI, USA

Disclosures: Imranul Alam, None

IRON STATUS REGULATES SERUM C-TERMINAL FGF23 IN HEALTHY ADULT WOMEN.

Erik Imel*1, Siu Lui Hui1, Amie Gray1, Dena Acton1, Anthony Acton1, Leah Padgett1, Munro Peacock2, Michael Econs 1. 1Indiana University School of Medicine, USA, 2Indiana University Medical Center, USA

Disclosures: Erik Imel, Kyowa Hakko Kirin Pharma, Inc., 2; Kyowa Hakko Kirin Pharma, Inc., 5

OSTEOSARCOMA CELLS MODULATE BONE MICROENVIRONMENT VIA EXTRACELLULAR MEMBRANE VESICLE

Biogenesis and Calcium Signaling Pathways

Rama Garimella*1, Laurie Washington2, Janalee Isaacson3, Ossama Tawfik4, Raymond

Perez5, Peter Rowe 1, Julian Vallejo6, Madoka Spence7, Marco Brotto8. 1University of Kansas Medical Center, USA, 2Division of Medical Clinical Oncology, Department of Internal Medicine, The University of Kansas Medical Center, USA, 3Muscle Biology Research Group, School of Nursing & Health Studies, University of Missouri-Kansas City, USA, 4Department of Pathology, The University of Kansas Medical Center, USA, 5Division of Medical Clinical Oncology, Department of Internal Medicine, The University

of Kansas Cancer Center, The University of Kansas, USA, 6Muscle Biology Research Group, School of Nursing & Health Sciences, The University of Missouri-Kansas City, USA, 7Muscle Biology Research Group, School of Nursing & Health Studies, The University of Missouri-Kansas City, USA, 8University of Missouri - Kansas City, USA

Disclosures: Rama Garimella, None

Suzanne Jan de Beur is chairing a session:

DISTINGUISHED ORALS - NEW PERSPECTIVES IN METABOLIC BONE DISEASE

8:00 am - 10:00 am Baltimore Convention Center

Hall A

Moderators:

Suzanne Jan De Beur, M.D.

Johns Hopkins University, USA

Disclosures: Suzanne Jan De Beur, None

Roland Chapurlat, M.D., Ph.D.

E. Herriot Hospital, France

Disclosures: Roland Chapurlat, None

Ultragenyx Announes Collaboration With Kyowa Hakko Kirin to Develop and Commercialize Phase 2-Stage KRN23 for X-Linked Hypophosphatemia

press release

Sept. 3, 2013, 9:00 p.m. EDT

Ultragenyx Announces Collaboration With Kyowa Hakko Kirin to Develop and Commercialize Phase 2-Stage KRN23 for X-Linked Hypophosphatemia

Exclusive Partnership Will Advance Global Clinical Development of KRN23, an Antibody for a Rare Bone Disease

NOVATO, Calif., Sep 03, 2013 (GLOBE NEWSWIRE via COMTEX) -- Ultragenyx Pharmaceutical Inc. today announced it has entered into a collaboration and license agreement with Kyowa Hakko Kirin Co., Ltd. (KHK), to develop and commercialize KRN23. KRN23 is a recombinant fully human monoclonal IgG1 antibody intended to treat X-linked hypophosphatemia (XLH). KHK is currently completing a Phase 1/2 study in adults with XLH in the US and Canada. The two companies plan to initiate a pediatric XLH program in 2014.

XLH is a rare metabolic bone disorder caused by excessive loss of phosphate in the urine leading to severe hypophosphatemia and poor bone growth and mineralization. XLH patients have low serum phosphate levels due to high levels of FGF23, a hormone that represses the reabsorption of phosphate from the urine. KRN23 is intended to bind to and render FGF23 inactive, leading to an increase in kidney tubular absorption of phosphate and increased serum phosphate levels. KRN23 is potentially the first specific treatment that addresses the underlying problem of excess FGF23 production in XLH.

Under the terms of the agreement, Ultragenyx and KHK will collaborate on the development of KRN23 for the US, Canada and European Union (EU), with Ultragenyx leading development efforts in the XLH indication and the parties sharing development costs. If KRN23 is approved, Ultragenyx and KHK will share commercial responsibilities and profits in the US and Canada, KHK will commercialize KRN23 in the EU and Ultragenyx will develop and commercialize KRN23 in Mexico, Central and South America. KHK will manufacture and supply KRN23 for clinical and commercial use globally.

"We are excited to enter into this collaboration with KHK on KRN23, a promising clinical-stage product to treat a rare and debilitating bone disease," said Emil D. Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. "The collaboration combines KHK's broad antibody-based discovery, manufacturing and development capabilities with our expertise in the clinical development of novel therapeutics for rare genetic diseases. We look forward to working closely with the KHK team, investigators, and patients on continuing development of KRN23, a much needed new therapy for XLH patients."

KHK has successfully completed a Phase 1 (US-02) and a Phase 1/2 (INT-001) study with a Phase 1/2 extension (INT-002) study ongoing in adults with XLH. Data from the Phase 1 (US-02) study will be presented at an upcoming scientific meeting. Under the collaboration, Ultragenyx and KHK plan to continue the development of KRN23 in adult XLH patients while initiating a pediatric XLH program in 2014.

"KRN23 is a strategically important product for Kyowa Hakko Kirin to expand its business into global markets," commented Yoichi Sato, Executive Managing Officer, Vice President, Head, Development Division at KHK. "We believe that the collaboration with Ultragenyx will accelerate the development and commercialization of KRN23 and maximize its value in global markets. Through the collaboration, Kyowa Hakko Kirin will continue to use its best efforts to bring KRN23 to XLH patients who need the new therapy the most."

About X-linked Hypophosphatemia (XLH)

XLH is a disorder of phosphate metabolism caused by phosphate wasting in the urine leading to severe hypophosphatemia. XLH is the most common heritable form of rickets that is inherited as an X-linked dominant trait affecting both males and females, though the disease in males by some reports may be more severe. XLH is a distinctive bone disease characterized by inadequate mineralization of bone that leads to a spectrum of abnormalities, including progressive bowing of the leg, osteomalacia, bone pain, waddling gait, short stature, gross motor impairment, muscle weakness, osteopenia, frequent/poorly healing microfractures, spinal stenosis and osteoarthritis.

Most patients are managed using oral phosphate replacement and vitamin D (calcitriol) therapy, which is poorly tolerated and only partially effective at restoring bone physiology and growth. Current treatment with oral phosphate requires extremely close monitoring and can result in complications such as secondary hyperparathyroidism, hypercalciuria, hypercalcemia and nephrocalcinosis. XLH was originally called vitamin D-resistant rickets, because doses of vitamin D effective for the treatment of vitamin D-deficient nutritional rickets did not have an impact on phosphate levels in these patients.

About KRN23 and FGF23

KRN23 is a recombinant fully human monoclonal IgG1 antibody discovered by KHK and being developed to treat X-linked hypophosphatemia (XLH). KRN23 is designed to bind to and thereby reduce the biologic activity of fibroblast growth factor 23 (FGF23). FGF23 is a hormone that promotes phosphate excretion by the kidney and suppresses vitamin D production. FGF23 also reduces the expression of the enzyme that is required to synthesize a hormone that normally increases renal tubular absorption of both phosphate and calcium. Therefore, FGF23 induces profound reductions in serum phosphate levels. Phosphate wasting in XLH is caused by excessive levels and activity of FGF23.

About Ultragenyx

Ultragenyx is a privately held, clinical-stage biotechnology company committed to bringing to market life-transforming therapeutics for patients with rare and ultra-rare metabolic genetic diseases. Founded in 2010, the company is rapidly building a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no effective treatments.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx's strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the company's website at www.ultragenyx.com.

About Kyowa Hakko Kirin

Kyowa Hakko Kirin is a leading biopharmaceutical company in Japan focusing on its core business areas of nephrology, oncology and immunology/allergy. Kyowa Hakko Kirin leverages antibody-related leading-edge technologies to discover and develop innovative new drugs aiming to become a global specialty pharmaceutical company contributing to the health and well-being of people around the world.

For more information, please visit the company's website at www.kyowa-kirin.com.

        CONTACT: For Media inquiries:
                 Susan Kinkead, Kinkead Communications
                 susan@kinkeadcomm.com
        
                 For Investor inquiries:
                 Shalini Sharp, Ultragenyx Pharmaceutical Inc.
                 ssharp@ultragenyx.com
        

http://www.globenewswire.com/newsroom/ti?nf=MTMjMTAwNDcyMDgjMjA3Mzk=

(C) Copyright 2013 GlobeNewswire, Inc. All rights reserved. 

REGISTRATION – XLH DAY September 21-22, 2013

Quinnipiac University

Frank H. Netter MD School of Medicine

370 Bassett Road North Haven, CT 06473

Thank you to everyone who preregistered!   Preregistration helped us with planning, estimating costs, and securing appropriate resources for the event.  Official registration is now open and will continue through September 15. 

Even if you preregistered, we kindly ask you to officially register for the XLH Day event.

-Cost

  Adult: $20

  Children under 12: $15

Cost covers admission to the event and all meals.   The cost is the same for attending one or both days.

-Payment

Payment can be made by personal check, PayPal, or by credit card through PayPal. 

Payment must be made in advance.  Payment will not be accepted at the door.

Personal checks should be made out to “The XLH Network” and mailed to:

  Bill Coogan

  Treasurer, The XLH Network

  9 Crestview Dr.

  Brookfield, CT 06804

A link at the end of the registration process will take you to a secure PayPal site for payment by PayPal or credit card through PayPal.

-Stipends

A limited number of registration fee stipends are available for XLH Network Members that need assistance due to income limitations.  Contact Bill Coogan at bill.coogan@xlhnetwork.org for further information.

Once registration is completed, you should receive an automated confirmation via email.  If you need additional assistance, or are having difficulty, or do not receive the confirmation, please do not hesitate to email the registration coordinator  at  help@xlhday.com, or call at  610.799.6278.

Official registration is open through September 15.  Registration on site at XLH Day will not be available.

NOTE, at the end of the registration form is a section for REGISTRATION FEES.   To activate the registration and enable the Submit button you must use the pull-down menu and select any number other than 0.

XLH Day Events include:

Educational Panel of Distinguished Experts

Dr. Thomas Carpenter (Yale University, Pediatric Endocrinology) Dr. Ingrid Holm (Children's Hospital Boston, Pediatric Endocrinology and Genetics) Dr. Margaret Seton (Massachusetts General Hospital, Rheumatology) Dr. Carolyn Macica (Quinnipiac University, Frank H. Netter School of Medicine, Medical Sciences) Dr. Melinda Sharkey (Yale University School of Medicine, Pediatric Orthopedic Surgery) Dr. Regina Goetz (New York University, Research Scientist, Biochemistry & Molecular Pharmacology) Dr. Raghbir Kaur (Yale-New Haven Hospital, Pediatric Dentistry)

Occupational Therapy/ Physical Therapy Rehabilitative Panel

We are introducing this exciting NEW addition to XLH Day this year. The Rehab Panel will focus on rehabilitation skills and services available to clients of all ages.

Concurrent to the Educational Panel, there will be Pediatric Sessions for Ages 8-18 years

"The ABCs of XLH" (Dr. Laleh Ardeshirpour, Pediatric Endocrinologist, Yale University School of Medicine) "Healthy Smiles" (Dr. Leslie Blackburn, Pediatric Dentist, Yale-New Haven Hospital) "Pediatric Physical Therapy" (Christina Rao, Yale-New Haven Hospital) "Healthy Snack Demo and Nutrition Presentation" - TBA

Magic Show for All Ages by The Great  Leone

Please visit www.xlhday.com for the full schedule of events, speaker biographies, to submit questions for "Ask the Experts," and more!

-Schedule

XLH Day "Kick-Off" Dinner and Social

September 21 at 6:00-9:00 p.m.

XLH Day Educational Session

September 22, 2013

Registration: 9:00 a.m.

Interactive Panels: 10 a.m.- 4:30 p.m.

Lunch Break: Noon-2:00 p.m.

Copyright © 2013 The XLH Network, All rights reserved. 

XLH Network Survey

The XLH Network is currently in a year-long process of working to grow our organization and better meet the needs of the XLH community. As part of our initiatives, we have designed a survey in hopes of getting feedback from our members. Your feedback is invaluable, and it will allow us to think strategically about how to best advocate for XLH patients and families.

You can reach the survey through the following link:

  https://www.surveymonkey.com/s/XLH_Network

We expect the survey to take no more than fifteen minutes of your time, and we appreciate your input!

XLH Network

2013 Rare Disease Day Symposium

In February the 2013 Rare Disease Day Symposium was held in California at the Sanford-Burnham Medical Research Institute.    This year's topic was "Calcification Disorders - from Hardened Arteries to Soft Bones".     Among the many esteemed presenters was our very own Scientific Advisor board member Dr. Thomas Carpenter presenting on "X-linked hypophosphatemia 2013: a clinical update of the prototype renal phosphate wasting disorder".      Also attending and representing the XLH Network were Becky Mock, our new president, and board member Kathy Buchanan.    Becky participated in a panel discussion along with seven other heads of rare disease organizations.

The most exciting news is many of the presentations, including the panel discussion, were videotaped and are available online at the following link.  (Look for the play button on the presenters picture).

http://www.sanfordburnham.org/research/childrenshealth/genetic/symposium/Pages/2013.aspx

Talks relating to XLH are:

Dr. Thomas Carpenter M.D. - "X-linked hypophosphatemia 2013: a clinical update of the prototype renal phosphate wasting disorder"

Kenneth White, Ph.D. - "FGF23: a common denominator in metabolic bone diseases"

Panel Discussion - hosted by Charlene Waldman

The other talks may be of interest and worth viewing as many of the other rare diseases share similarities with XLH.