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5TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE Rome, Italy November 1-4 2017 EMBRACING INNOVATION ADVANCING THE CURE PROGRAM & ABSTRACTS 5TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE ROME, ITALY NOVEMBER 1-4 2017 EMBRACING INNOVATION ADVANCING THE CURE ISMRD would like to say a very special thank you to the following organizations and companies who have very generously given donations to support the 5th International Conference on Glycoproteinoses. ISMRD is an internationally focused not-for-profi t organization whose mission is to advocate for families and patients aff ected by one of the following disorders. Alpha-Mannosidosis THE WAGNER FOUNDATION Aspartylglucosaminuria Beta-Mannosidosis Fucosidosis Galactosialidosis ISMRD is very grateful for all the help and support that Symposia has given us Sialidosis (Mucolipidosis I) in the organization of our Conference on-the-ground support in Rome. Mucolipidosis II, II/III, III alpha/beta Mucolipidosis III Gamma Schindler Disease EMBRACING INNOVATION ADVANCING THE CURE SCIENTIFIC COMMITTEE: Alessandra d’Azzo CHAIR Contents Amelia Morrone Italy Richard Steet USA Welcome 2 Heather Flanagan-Steet USA ISMRD Mission & Governance 4 Dag Malm Norway ISMRD General Information 6 Thomas Braulke Dedicated to helping patients Germany in the rare disease community Stuart Kornfeld with unmet medical needs Scientifi c Program 10 USA Ultragenyx Pharmaceutical Inc. is a clinical-stage Family Program 14 ISMRD CONFERENCE biopharmaceutical company committed to creating new COMMITTEE: therapeutics to combat serious, debilitating diseases. Jenny Noble www.ultragenyx.com Children's Program 17 New Zealand Jackie James Abstracts 18 USA Mark Stark USA Poster Abstracts 51 John Forman New Zealand © 2017 Ultragenyx Pharmaceutical Inc. www.ultragenyx.com 8/16 Speaker Profi les 60 Carolyn Paisley-Dew MRCP-UGNX-00008 Australia Delegates 86 5TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2017 EMBRACING INNOVATION ADVANCING THE CURE On behalf of the Scientifi c Committee of ISMRD, it is my honor and great joy to welcome the patients, families, clinicians, and scientists who have traveled to Roma to attend the Fifth International Conference on Glycoproteinoses. This is the fi rst ISMRD conference to be held in Europe. We changed the venue of this gathering to raise global awareness of Welcome to Rome! these rare lysosomal disorders and increase the visibility of ISMRD as a family-centric organization that not only supports patients and their families but also funds scientifi c research On behalf of ISMRD, I would like to welcome Of course, our conference would not take aspect of the conference. and meetings on glycoproteinoses worldwide. you all to the Fifth Glycoproteinoses place without signifi cant charitable donations. My hope for each family attending is that you We designed this year’s scientifi c program International Conference on 'Embracing I would like to thank the following companies will leave this conference knowing that you to bring together basic scientists and Innovation and Advancing the Cure'. and foundations, Ultragenyx, EveryLife have an ISMRD family that stands behind you, clinicians with patients and their families Foundation, Sanofi /Genzyme, Amicus and The ISMRD is thrilled to bring our International and that you are not alone in this journey. to share their latest discoveries in the areas Wagner Foundation. I would also like to extend Conference to Europe allowing us to connect of pathophysiology, preclinical therapy our very grateful thanks to Symposia who are with families, researchers, clinicians, support development, and clinical trials for these event planners, who have worked alongside us groups and others who work in the fi eld of rare diseases. Patients and their family members here in Rome and have helped you check in at JackiePRESIDENT Jam ISMRD diseases. But, more importantly to help make have been included in the program to off er registration. They will be on site throughout the the invaluable connections for families who a unique opportunity to young researchers meeting off ering support and answering any perhaps have never met another family with to learn fi rst-hand about the experiences, questions you may have. their particular disease. challenges, and concerns of patients with To the families who are a part of the glycoproteinoses and their expectations for the Over the next few days you will have the conference: welcome! It can be a lonely future. opportunity to learn about the advancements journey when you are told your child has a toward therapies for some of these diseases. Our vision for this conference is that it will very rare genetic condition, especially when You will hear from families about what it’s like stimulate the exchange of ideas, encourage you might be the only family for miles around! to live with one of these very rare conditions, new collaborations among investigators and These meetings help make all those important and hear about the exciting advances towards clinicians with diff erent expertise, spark interest connections, creating a network of support, Enzyme Replacement Therapy and Gene in these diseases among postdoctoral research information and knowledge. I know there Therapy. fellows and graduate students, strengthen will be some lifelong friendships made this connections among aff ected families around It takes many hours and hard work to bring weekend. To families who have been to our the world, and foster national and international together a meeting of this nature. I would like meetings in the past please reach out to those partnerships to advance therapies for aff ected to thank our Primary Investigator Alessandra who are new. I hope over the next few days children and adolescents. d’Azzo and her Scientifi c Committee who have you will have the confi dence to approach put together a really strong scientifi c program the researchers and clinicians attending this Together, we will keep advancing treatment and with some amazing speakers from around the meeting and ask all your questions. I know advocating for patients and families aff ected by world. from experience that they look forward to this these disorders. Enjoy the conference! Ph.D. AlCHAIR sandra SCIENTIFIC d’Azzo COMMITTEE 2 3 5TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2017 EMBRACING INNOVATION ADVANCING THE CURE ISMRD BOARD OF DIRECTORS ISMRD ADVISORY BOARD ISMRD Mission ISMRD’s Board of Directors is assisted in the execution of its mission and goals by the following distinguished members of the international scientific and & Governance medical community. ISMRD is a U.S. 501 (c)3 charity that is governed by an all-volunteer organization led by a Board of Directors whose backgrounds span nations, Jackie James Jenny Noble diseases and experience. Each member President Vice President/Admin of the Board serves a two-year term, United States New Zealand which can be renewed upon the approval of the remaining members. We actively seek out others whose experience and background enhance Steven Walkley, D.V.M., Ph.D. Barbara Burton, M.D. Sara Cathey, M.D. Alessandra d’Azzo, Ph.D. our ability to carry out our Mission, and Albert Einstein College of Children’s Memorial Hospital, Greenwood Genetic Centre St Jude Children’s Research Medicine, USA Chicago, USA South Carolina, USA Hospital, USA whose passion for that Mission enables us to reach our goals. We seek a future in which children with Glycoprotein Storage Diseases can be detected John Forman Mark Stark early, treated effectively, and go on Vice President/Research Treasurer to live long, healthy and productive New Zealand United States lives; a future where doctors and other clinicians are knowledgeable of and able to detect these genetic defects efficiently and with accuracy. In our vision the public at-large will have a Dag Malm, M.D., Ph.D. Marc Patterson, M.D. Mark Haskins, V.M.D., Ph.D. Richard Steet, Ph.D. general knowledge and understanding University Hospital Tromsoe, Child Neurology University of Pennsylvania University of Georgia Athens of these diseases, and will actively strive Norway Mayo Clinic, Rochester, USA Veterinary Hospital, USA Georgia, USA to prevent their occurrence. Ultimately, we envision a world where there will no longer be a need for our organization Carolyn Paisley-Dew Paul Wagner Australia United States or others like it to exist. John Hopwood, Ph.D. Thomas Braulke, Ph.D. Charles Vite, Ph.D. Women & Children’s Hospital, University of Hamburg School of Veterinary Medicine Adelaide, Australia Hamburg, Germany Philadelphia, USA Juanita Van Dam Australia 4 5 5TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2017 EMBRACING INNOVATION ADVANCING THE CURE ISMRD General Information ISMRD Conference Functions SPEAKER PRESENTATIONS GENERAL QUESTIONS WELCOME RECEPTION AWARDS DINNER Please go to Registration ISMRD is thrilled to have the REGISTRATION DESK TIMES Wednesday 1st November Friday 3rd November during Welcome Reception support of Symposia. Their staff Time: 6:30pm – 8:30pm Time: 6:30pm for seating at 7pm on 1st November to get are multilingual and are available Wednesday 1st November your presentations loaded to answer any questions you may 4:30pm - 6:30pm Room: Foyer of the Conference Center Room: The Conference Center Thursday 2nd November onto the computer prior to have about the meeting. Drinks: A cash drinks station is available for all Join us for one of the highlights of our the commencement of the 7:30am - 4:30pm ISMRD Board members are also drinks. conference, this year’s Awards Dinner will be conference. Friday 3rd November available to help you. something a little special. 8:00am - 12noon Don’t miss a great opportunity to meet your If you missed the above please colleagues, meet old friends and make new ones Pre-dinner drinks will be available at a cash drinks go to the Registration desk before the conference begins at 8:30am the next station before the commencement of a 3-course CATERING between 7:30am and 8:00am, day. An evening of local food and wine not to be dinner. The food, wine and entertainment promise or see your presentation Welcome Reception: missed.
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