Thursday, October 3, 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