4Th Glycoproteinoses International Conference Advances in Pathogenesis and Therapy

Total Page:16

File Type:pdf, Size:1020Kb

4Th Glycoproteinoses International Conference Advances in Pathogenesis and Therapy 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.
Recommended publications
  • Neuroradiologic Findings in Fucosidosis, a Rare Lysosomal Storage Disease
    Neuroradiologic Findings in Fucosidosis, a Rare Lysosomal Storage Disease James M. Provenzale, Daniel P. Barboriak, and Katherine Sims Summary: Fucosidosis is a rare lysosomal storage disorder with vacuolated secondary lysosomes containing some fine the clinical features of mental retardation, cardiomegaly, dysos- fibrillar material and lamellated membrane structures. tosis multiplex, progressive neurologic deterioration, and early A magnetic resonance (MR) examination at the age of death. The neuroradiologic findings in two patients are reported, 10 years showed confluent regions of hyperintense signal and include abnormalities within the globus pallidus (both pa- on T2-weighted images in the periventricular regions, tients) and periventricular white matter (one patient). most prominent surrounding the atria of the lateral ventri- cles. Hyperintense signal was noted in the globus pallidus Index terms: Brain, metabolism; Degenerative disease, Pediatric on T1-weighted images, with corresponding hypointense neuroradiology signal on T2-weighted images (Fig 1). Fucosidosis is a rare metabolic disorder caused by decreased amounts of the enzyme Case 2 a-L-fucosidase, which results in the accumula- A 2-year-old boy was examined for speech delay and tion of fucose-rich storage products within psychomotor retardation. He was born at term after a many organs, including the brain. Patients with normal pregnancy, and appropriate development oc- this disorder usually have delayed intellectual curred during the first year of life. However, by age 2 years, and motor development, and often die within the patient had not developed speech, exhibited autistic the first decade of life. Computed tomographic behavior, and performed motor tasks poorly. Physical ex- (CT) findings have been reported in a few cases amination findings included coarsened facial features, nar- (1, 2).
    [Show full text]
  • Program Download
    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. THE WAGNER FOUNDATION ISMRD is very grateful for all the help and support that Symposia has given us in the organization of our Conference on-the-ground support in Rome. Dedicated to helping patients in the rare disease community with unmet medical needs Ultragenyx Pharmaceutical Inc. is a clinical-stage biopharmaceutical company committed to creating new therapeutics to combat serious, debilitating diseases. www.ultragenyx.com © 2017 Ultragenyx Pharmaceutical Inc. www.ultragenyx.com 8/16 MRCP-UGNX-00008 5TH GLYCOPROTEINOSES INTERNATIONAL CONFERENCE 2017 Welcome to Rome! On behalf of ISMRD, I would like to welcome Of course, our conference would not take you all to the Fifth Glycoproteinoses place without significant charitable donations. International Conference on 'Embracing I would like to thank the following companies Innovation and Advancing the Cure'. and foundations, Ultragenyx, EveryLife Foundation, Sanofi/Genzyme, Amicus and The ISMRD is thrilled to bring our International Wagner Foundation. I would also like to extend Conference to Europe allowing us to connect our very grateful thanks to Symposia who are with families, researchers, clinicians, support event planners, who have worked alongside us groups and others who work in the field of rare here in Rome and have helped you check in at diseases. But, more importantly to help make registration. They will be on site throughout the the invaluable connections for families who meeting offering support and answering any perhaps have never met another family with questions you may have.
    [Show full text]
  • File Download
    Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders Minzhi Xing, Emory University E I Parker, Emory University A Moreno-De-Luca, Geisinger Health System Elie Harmouche, Emory University Michael Terk, Emory University Journal Title: British Journal of Radiology Volume: Volume 87, Number 1033 Publisher: British Institute of Radiology | 2014-01-01, Pages 20130467-20130467 Type of Work: Article | Final Publisher PDF Publisher DOI: 10.1259/bjr.20130467 Permanent URL: https://pid.emory.edu/ark:/25593/pr2p5 Final published version: http://dx.doi.org/10.1259/bjr.20130467 Copyright information: © 2014 The Authors. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits distribution of derivative works, making multiple copies, distribution, public display, and publicly performance, provided the original work is properly cited. This license requires credit be given to copyright holder and/or author, copyright and license notices be kept intact. Accessed September 24, 2021 3:09 PM EDT BJR © 2014 The Authors. Published by the British Institute of Radiology Received: Revised: Accepted: doi: 10.1259/bjr.20130467 28 July 2013 29 October 2013 8 November 2013 Cite this article as: Xing M, Parker EI, Moreno-De-Luca A, Harmouche E, Terk MR. Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol 2014;87:20130467. REVIEW ARTICLE Radiological
    [Show full text]
  • Childhood Dementia Initiative
    Childhood Dementia in Australia: quantifying the burden on patients, carers, the healthcare system and our society Prepared by: Dominic Tilden, Madeline Valeri and Magda Ellis THEMA Consulting Pty Ltd www.thema.net Prepared for: Childhood Dementia Initiative www.childhooddementia.org THEMA Consulting Report (2020). Childhood Dementia in Australia: quantifying the burden on patients, carers, the healthcare system and our society. www.childhooddementia.org/burdenstudy Released on the 18th November 2020 Sydney, Australia. © Childhood Dementia Initiative 2020 Website address for further details. www.childhooddementia.org KEY POINTS : Childhood dementia is a recognised, albeit little known group of disorders, comprised of more than 70 individual genetic conditions. : Childhooddementiadisordersareprogressiveanddevastatinginnatureandposeasignificantlycomplex medicalchallenge,withpatientstypicallyrelyingonfulltimesupportivecareandextensivehealthcare services in the mid-later stages of the disease. : ThisstudydemonstratesforthefirsttimetheburdenassociatedwithchildhooddementiainAustralia, the tremendous negative impact it has on affected children, families and the community, and the resulting economic costs. : Effective therapeutic intervention remains an unmet clinical need for the vast majority of childhood dementia disorders. : It is estimated that the collective incidence of disorders that cause childhood dementia is 36 per 100,000 live births. This equates to 129 births in Australia each year. : In 2021, it is estimated there will be 2273 Australians
    [Show full text]
  • Fast Urinary Screening of Oligosaccharidoses by MALDI-TOF/TOF Mass Spectrometry
    Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry. Laurent Bonesso, Monique Piraud, Céline Caruba, Emmanuel van Obberghen, Raymond Mengual, Charlotte Hinault To cite this version: Laurent Bonesso, Monique Piraud, Céline Caruba, Emmanuel van Obberghen, Raymond Mengual, et al.. Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.. Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.19. 10.1186/1750-1172-9-19. inserm- 00945684 HAL Id: inserm-00945684 https://www.hal.inserm.fr/inserm-00945684 Submitted on 12 Feb 2014 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Bonesso et al. Orphanet Journal of Rare Diseases 2014, 9:19 http://www.ojrd.com/content/9/1/19 RESEARCH Open Access Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry Laurent Bonesso1, Monique Piraud5, Céline Caruba1, Emmanuel Van Obberghen1,2,3,4, Raymond Mengual1† and Charlotte Hinault1,2,3,4*† Abstract Background: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids.
    [Show full text]
  • Geting Processes
    Translational Science of Rare Diseases 4 (2019) 133–157 133 DOI 10.3233/TRD-190047 IOS Press Practical management of lysosomal storage disorders (LSDs) Pranoot Tanpaiboona,b,∗ aAdvanced Diagnostics Genetics, Genomics and R&D, Quest Diagnostics, San Juan Capistrano, CA, USA bChildren’s National Rare Disease Institute, Michigan Ave NW, Washington, DC, USA Abstract. Lysosomal Storage Disorders (LSDs) comprise a group of disorders causing defects at the organelle and sub- organelle level with a wide range of pathophysiologies and clinical consequences. Signs and symptoms of LSDs involve multiple organ systems. The main pathological mechanism of most LSDs was previously thought to be cytotoxic effects of a specific storage substance secondary to functional impairment or insufficient lysosomal enzymes. Other pathophysiologic mechanisms of LSDs have been discovered such as dysfunction of cell signaling, disturbance of cell homeostasis, inflamma- tory process and dysfunction of autophagy. The goal of treatment is to balance equilibrium of the enzyme and the accumulated substance. Replacing deficient enzyme through exogenous enzyme replacement therapy (ERT) or stem cell transplantation has been the main method of treatment for several years. The ability of ERT to alleviate neurologic symptoms is limited owing to the inability of the exogenous enzyme to cross the blood-brain barrier. The benefit of stem cell transplantation on neurologic symptoms has been demonstrated for Hurler syndrome, but it is not clear for most LSDs. Other strategies, such as gene therapy, have been under development to overcome this limitation and provide a better outcome. Early treatment or pre-symptomatic treatment could also slow disease progression and improve prognosis.
    [Show full text]
  • Lysosomal Diseases
    THE GLYCOPROTEINOSES: SECOND INTERNATIONAL WORKSHOP ON ADVANCES IN PATHOGENESIS AND THERAPY JULY 26-27, 2007 ANN ARBOR, MICHIGAN Scientific Conference Day 1 Morning Sessions, July 26 7:30-8:15 Continental Breakfast 8:15-8:30 Welcome and Introductions, Opening Remarks – Goals of the conference, progress since the last conference - Steven Walkley (with additional comments by officials from ISMRD, NINDS, ORD) 8:30-9:15 Plenary Address Cross-Correction: Looking Back, Looking Forward – Elizabeth Neufeld Session 1: Animal Models, Pathogenesis, Experimental Therapies (Chair, Mark Haskins) α-Mannosidosis 9:15-9:35 Enzyme replacement therapy for α-Mannosidosis - Judith Blanz 9:35-9:55 α-Mannosidosis in the Guinea Pig – Pathophysiological, behavioral, and treatment issues - John Hopwood 10:00-10:15 Break α-Mannosidosis (continued) 10:15-10:35 Strategies for translating gene therapy in the brain from rodents to clinical use - John Wolfe 10:35-10:55 Quantitative Imaging of gray matter disease associated with feline α- mannosidosis – Charles Vite β-Mannosidosis 10:55-11:15 β-Mannosidosis mice – A model for the human disease? – Karen Friderici Fucosidosis 11:15-11:30 Intrathecal enzyme infusion therapy in canine fucosidosis – Gauthami Kondagari 11:30-12:00 General Discussion 12:00-1:30 Lunch Afternoon Session, July 26 1:30-2:15 Special Lecture: The Glycoproteinoses: Limited Progress in Molecular Insight still Surpasses Present-day Treatment Efficacy – Jules Leroy Session 2: Animal Models, Pathogenesis, Experimental Therapies (Chair, John Wolfe)
    [Show full text]
  • Mucopolysaccharidoses and Mucolipidoses
    J Clin Pathol: first published as 10.1136/jcp.s3-8.1.64 on 1 January 1974. Downloaded from J. clin. Path., 27, Suppl. (Roy. Coll. Path.), 8, 64-93 Mucopolysaccharidoses and mucolipidoses F. VAN HOOF From the Laboratoire de Chimie Physiologique, Universite Catholique de Louvain, and International Institute of Cellular and Molecular Pathology, Brussels, Belgium Many different syndromes are classified as muco- THE CHEMICAL ERA polysaccharidoses, and, despite remarkable progress Chemical studies, performed mainly by groups in the biochemical understanding of these diseases, working with A. Dorfman, in Chicago and K. much remains to be learned and many cases still Meyer, in New York, have provided most of the escape classification. new knowledge in the field by analysis of tissue and Mucopolysaccharidoses are inborn storage dis- urinary mucopolysaccharides in patients (Dorfman eases, characterized by a complex accumulation of and Lorincz, 1957; Meyer, Grumbach, Linker, and mucopolysaccharides and of glycolipids within the Hoffman, 1958; Meyer, Hoffman, Linker, lysosomes. Sixteen human diseases correspond to Grumbach, and Sampson, 1959). These provided the this definition, of which nine have been presently basis for the subdivision of the 'Hurler syndrome' explained by the deficiency of an acid hydrolase. into six subgroups (McKusick, Kaplan, Wise, They are somewhat arbitrarily divided into muco- Hanley, Suddarth, Sevick, and Maumanee, 1965). polysaccharidoses and mucolipidoses. In muco- The possibility that mucopolysaccharidoses could polysaccharidoses, mucopolysaccharides are the result from an excessive biosynthesis of muco- main storage substances, although an abnormal polysaccharides was suggested by Matalon and accumulation of complex lipids is practically always Dorfman (1966). copyright. disclosed at least by the ultiastructural examination.
    [Show full text]
  • DIAGNOSIS and THERAPIES for MUCOPOLYSACCHARIDOSES by Francyne Kubaski a Dissertation Submitted to the Faculty of the University
    DIAGNOSIS AND THERAPIES FOR MUCOPOLYSACCHARIDOSES by Francyne Kubaski A dissertation submitted to the Faculty of the University of Delaware in partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biological Sciences Spring 2017 © 2017 Francyne Kubaski All Rights Reserved DIAGNOSIS AND THERAPIES FOR MUCOPOLYSACCHARIDOSES by Francyne Kubaski Approved: __________________________________________________________ Robin W. Morgan, Ph.D. Chair of the Department of Biological Sciences Approved: __________________________________________________________ George H. Watson, Ph.D. Dean of the College of Arts and Sciences Approved: __________________________________________________________ Ann L. Ardis, Ph.D. Senior Vice Provost for Graduate and Professional Education I certify that I have read this dissertation and that in my opinion it meets the academic and professional standard required by the University as a dissertation for the degree of Doctor of Philosophy. Signed: __________________________________________________________ Erica M. Selva, Ph.D. Professor in charge of dissertation I certify that I have read this dissertation and that in my opinion it meets the academic and professional standard required by the University as a dissertation for the degree of Doctor of Philosophy. Signed: __________________________________________________________ Shunji Tomatsu, Ph.D. Member of dissertation committee I certify that I have read this dissertation and that in my opinion it meets the academic and professional standard required by the University as a dissertation for the degree of Doctor of Philosophy. Signed: __________________________________________________________ Robert W. Mason, Ph.D. Member of dissertation committee I certify that I have read this dissertation and that in my opinion it meets the academic and professional standard required by the University as a dissertation for the degree of Doctor of Philosophy.
    [Show full text]
  • International Conference
    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,
    [Show full text]
  • Mucolipidosis Type I)
    endothelial keratoplasty in 200 eyes: early chal- A lenges and techniques to enhance donor adherence. J Cataract Refract Surg. 2006;32(3): 411-418. 4. Culbertson WW. Descemet stripping endothe- lial keratoplasy. Int Ophthalmol Clin. 2006;46 (3):155-168. 5. Ellis DR, Cohen KL. Sulfur hexafluoride gas in the repair of Descemet’s membrane detachment. Cornea. 1995;14(4):436-437. 6. Sorenson A. DSEK prolene pull. http://www .newmediamedicine.com/videos/2007/01/17 /dsek-prolene-pull-andrew-sorenson-md/. Ac- cessed March 18, 2007. Cherry Red Spot in Sialidosis (Mucolipidosis Type I) The differential diagnosis of a cherry red spot in the macula includes cen- tral retinal artery occlusion and metabolic storage diseases such as B Tay-Sachs disease, Sandhoff dis- ease, Niemann-Pick disease, Fabry disease, Gaucher disease, and siali- dosis. We report a case of an ado- lescent who, at a routine ophthal- mic examination, was found to have a cherry red spot in the maculae of both eyes. Laboratory investigation results showed that the patient had mucolipidosis type I, which is a rare lysosomal storage disease with clini- cal and histologic findings similar to C the mucopolysaccharidoses and the sphingolipidoses. Report of a Case. A 14-year-old white boy complained of difficulty seeing the blackboard at school. A screen- ing eye examination found de- creased distance vision in both eyes. He was of normal intelligence and his medical history was significant only Figure 3. Slitlamp photograph of case 3 at postoperative month 1 shows a clear cornea (A), and on for scoliosis and seasonal allergies.
    [Show full text]
  • Alpha-Fucosidosis ¬タモ Two Brothers Presenting with Dysostosis Multiplex
    The Egyptian Journal of Medical Human Genetics (2016) 17, 243–246 HOSTED BY Ain Shams University The Egyptian Journal of Medical Human Genetics www.ejmhg.eg.net www.sciencedirect.com CASE REPORT Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex Rimshah Shaukat a, Syed Musa Raza a, Zabedah Md. Yuns b, Affandi Omar b, Bushra Afroze c,* a Aga Khan Medical University, Karachi, Pakistan b Institute of Medical Research, Kuala Lumpur, Malaysia c Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi, Pakistan Received 5 November 2015; accepted 30 November 2015 Available online 30 December 2015 KEYWORDS Abstract a-Fucosidosis is a rare inherited neuro-degenerative disorder causing progressive neuro- a Alpha-fucosidosis; logical deterioration leading to early death. Definitive diagnosis requires -fucosidase enzyme assay Pakistani patients; or FUCA1 gene testing, which being expensive limits the definitive diagnosis in resource limited Dysostosis multiplex countries. We present two siblings with classic symptoms, radiological and MRI brain findings sug- gestive of a-fucosidosis and a clinical approach to reach to the diagnosis. Ó 2015 The Authors. Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). 1. Introduction a-fucosidosis from Pakistan, focusing on radiological findings as a diagnostic tool to develop an approach to a patient with a-Fucosidosis (OMIM # 230000) is an autosomal recessive dysostosis multiplex, in neuro-degenerative disorders including a lysosomal storage disorder caused by the deficiency of fucosi- -fucosidosis (Fig. 1).
    [Show full text]