Program & Abstracts 4TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE ADVANCES IN PATHOGENESIS AND THERAPY ISMRD ST. LOUIS, MISSOURI, UNITED STATES Program & Abstracts I SM R D ADVANCES IN PATHOGENESIS AND THERAPY Program & Abstracts ISMRD would like to say A Very Special Thank You to the following organizations and companies who have very generously given donations and sponsorship to support the 4th International Conference on Glycoproteinoses THE PRENILLE EDWARD MALLINCKRODT FOUNDATION JR FOUNDATION MARK HASKINS I SM R D 4TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2015 ADVANCES IN PATHOGENESIS AND THERAPY Program & Abstracts ISMRD is very proud to display 10 featured Expression of Hope artworks to be Auctioned at the Gala Dinner. These beautiful prints are from Genzyme’s featured Artwork selection. Contents Welcome 1 SCIENTIFIC COMMITTEE: Stuart Kornfeld ISMRD Mission & Governance 3 (Chair, Scientifi c Planning Committee) Steve Walkley Sara Cathey ISMRD General Information 5 Richard Steet Sean Thomas Ackley, Philippines Miriam Storchli, Switzerland Alessandra d’Azzo ‘Hope’ by Sarah Noble, New Zealand Scientifi c Program 9 FAMILY CONFERENCE COMMITTEE: Family Program for Mucolipidosis 11 Jenny Noble (Conference Organiser) Jackie James (Conference Organiser Family Program For Alpha Mannosidosis /Sialidosis/ 13 - St. Louis) Fucosidosis/Aspartylglucosaminuria Mark Stark John Forman ‘All around the world’ by Zih Yun Li , Taiwan Childrens Program 16 Susan Kester Carolyn Paisley-Dew Tish Adkins Abstracts 17 Sara DeAngelis, Russia Gayle Rose, United States Speaker Profi les 60 Delegates 81 Helen Walker, Australia Nicklas Harkins, Canada Naomi Arai, Japan David Wentworth, Serbia I SM R D 4TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2015 ADVANCES IN PATHOGENESIS AND THERAPY Program & Abstracts On behalf of the Scientifi c Planning Committee, I want to extend a warm welcome to all the investigators and Welcome! families who have traveled to St. Louis, in some cases from distant locations, to attend the Fourth International Conference on the Glycoproteinoses. On behalf of ISRMD, I would like to welcome that it is the people at these organizations who It is our goal that we provide fun, supervised The goal of the scientifi c program is all of you to the Glycoproteinoses: Fourth make this happen. These people that support activities for your children so that you can get to bring together leading investigators International Conference on Advances in orphan disease research are not hoping for the time to meet with other families. I would also from around the world to discuss the Pathogenesis and Therapy in St. Louis, Missouri. next blockbuster drug; instead they are using encourage you to reach out to the researchers latest advances in understanding the I know that the next few days will be a great their resources for the altruistic goal of helping and clinicians attending this conference. I know pathophysiology of these rare disorders opportunity for you to learn about advances children and families overcome these debilitating from experience that they welcome the chance and the status of the development of new therapies. The intent is to stimulate in the understanding of the pathology and conditions. The same is true for the researchers to meet with you. an interchange of ideas and develop therapeutics for this group of extremely rare and clinicians who spend time studying these As most of you know, ISRMD is an all-volunteer collaborations among investigators with diseases; I also hope you will take the opportunity diseases; and caring for the children aff ected by organization. We have no paid employees, diff erent approaches and expertise. to meet with others who share your interest in these disorders. and all work is done by our board. It takes a Another goal is to increase the fi nding therapies and cures for these devastating I would also like to thank the families who are huge amount of work to pull this conference awareness of these underserved forms disorders. Since these conditions are so rare, of lysosomal diseases among new part of this conference. As a father of a son together. Led by Dr. Kornfeld, all of our board there are no concentrations of researchers, investigators, post-doctorate fellows with alpha-mannosidosis, I know how terrible members have been working hard to get funding, clinicians, or patients anywhere in the world. and graduate students. The conference it is to get a diagnosis of a rare metabolic organize the venue and travel, arrange children’s I am extremely pleased that ISRMD is able to is designed to foster interactions disorder for your child. I know how alone you activities, and make sure we are fed. All of our bring together this group of people from around between the investigators and patients/ feel when you realize that your doctor has board members have contributed, but I would the globe; it has been three years since the last aff ected families. probably never heard of the disease, and there especially like to recognize Jenny Noble and conference, and I know you will be very excited is no one else in your state or in your country Jackie James, who have worked tirelessly to We hope that you have a rewarding to see how much progress has been made in to talk to about the disease. It is the banding make sure that this is a great experience for experience at the meeting. understanding and treating these rare disorders. together of these isolated families through the everyone. It takes a lot of work and funding to bring power of the internet, email, and social media Welcome to the Conference! I hope you learn Stuart Kornfeld, M.D. together this great group of people. I would that is the heart of ISRMD; and it is what has something, have a great time, and meet new Chair, Scientifi c Planning Committee fi rst like to thank our Primary Investigator, Dr. made this conference possible. Your donations friends. Stuart Kornfeld. We are so fortunate that he of time and money, your commitment to help agreed to host this conference. Without him, this support research projects, and your relentless Thank you, conference would simply not be possible. He has eff ort to help your children live fuller lives of course done a great job organizing fantastic is the bedrock of our organization. I would speakers; but he has also done so much more to encourage the families who have been with us Mark Stark, reach out to other organizations to participate for a while to reach out to the new families or President and to fund this conference. I would also like those travelling from other countries. I know that to thank our corporate sponsors, who have lifelong friendships are made this way through contributed so much to this conference. I know the shared bond of caring for a special child. 1 2 I SM R D 4TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2015 ADVANCES IN PATHOGENESIS AND THERAPY Program & Abstracts ISMRD BOARD OF DIRECTORS ISMRD ADVISORY BOARD ISMRD’s Board of Directors is assisted in the ISMRD Mission execution of its mission and goals by the following distinguished members of the international scientifi c & Governance and 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, diseases and experience. Each Mark Stark Jenny Noble President United States Vice President/Admin member of the Board serves a two-year term, New Zealand which can be renewed upon the approval of the remaining members. We actively seek out others whose experience and background enhance our ability to carry out our Mission, Steven Walkley, D.V.M., Ph.D. Barbara Burton, M.D. Sara Cathey, M.D. Alessandra d’Azzo, Ph.D. and whose passion for that Mission enables Albert Einstein College of Children’s Memorial Hospital, Greenwood Genetic Centre St Jude Children’s Research us to reach our goals. We seek a future in Medicine, USA Chicago, USA South Carolina, USA Hospital, USA which children with Glycoprotein Storage Diseases can be detected early, treated eff ectively, and go on to live long, healthy and productive lives; a future where doctors and John Forman Tish Adkins Vice President/Research United States other clinicians are knowledgeable of and New Zealand able to detect these genetic defects effi ciently and with accuracy. In our vision the public at-large will have a general knowledge and understanding of these diseases, and will actively strive to prevent their occurrence. Ultimately, we envision a world where there Dag Malm, M.D., Ph.D. Marc Patterson, M.D. Mark Haskins, V.M.D., Ph.D. Richard Steet, Ph.D. University Hospital Tromsoe, Child Neurology University of Pennsylvania Vet- University of Georgia Athens will no longer be a need for our organization Norway Mayo Clinic, Rochester, USA einary Hospital, USA Georgia, USA or others like it to exist. Carolyn Paisley-Dew Jackie James Australia United States 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 Susan Kester United States 3 4 I SM R D 4TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2015 ADVANCES IN PATHOGENESIS AND THERAPY Program & Abstracts ISMRD General Information ISMRD Conference Functions SPEAKER PRESENTATIONS REGISTRATION DESK TIMES MOBILE PHONES AND MOVEMENT WELCOME RECEPTION GALA DINNER PHOTOGRAPHER Please see Jenny Noble or Mark Thursday 23rd July: BETWEEN MEETINGS Thursday 23rd July Saturday 25th July ISMRD has arranged for a Stark during Registration or the 4.30pm - 6:30pm Participants are asked to ensure Time: 6.30pm – 8.30pm Time: 6.30pm for seating at 7pm Photographer to be available from Welcome Reception on 23rd Friday 24th July: that all mobile phones are 4.30 - 6.30 to take family portraits.