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ANNUAL SYMPOSIUM
(February 2008, Las Vegas, NV, USA)
Meeting Program Now Online!
And as a .pdf file  

ANNUAL SYMPOSIUM 2006
Update: The Proceedings of the LDN WORLD Symposium 2006 are now published in the December 2007 issue of
Molecular Genetics and Metabolism
(Volume 92, Issue 4, Pages S1-S34, 287-378)

ANNUAL SYMPOSIUM 2005
Program and Abstracts (640kb .pdf file)

ANNUAL SYMPOSIUM 2004
Program

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The Lysosomal Diseases
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Hurler syndrome
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WORLD Symposium 2008 Preliminary Program
Subject to change
TUESDAY
February 12, 2008		    

Satellite Meeting

  

Hunter Outcome Survey (HOS) - Shire Genetic Therapies, Inc. (by invitation only, contact: Carol Cannon, ccannon@shire.com)
Shire HGT HOS meeting: 8:00 a.m. - 4:30 p.m.
Shire HGT HOS dinner: 5:15 p.m.

Satellite Meeting

   Summit Meeting for Lysosomal Disease Patient Groups - organized by the Hide & Seek Foundation (by invitation only, contact: Stephanie Lyn, stephanie@hideandseek.org) 2:30 p.m. - 7:00 p.m.
WEDNESDAY
February 13, 2008		   BASIC AND BENCH RESEARCH
Session 1
Wednesday Morning
  Pathophysiology of
Lysosomal Diseases		 Steven Walkley,
Don Mahuran,
Co-Chairs
         
8:30   Chester Whitley
University of Minnesota, Minneapolis, MN 		  Welcome
     
8:45   Edwin Kolodny
New York University School of Medicine, New York, NY 		  Keynote Address:
"Reflections On The Current State of Diagnosis For LSDs"
     
9:00   Susan Slaugenhaupt
Massachusetts General Hospital/Harvard Medical School, Boston, MA 		  A murine model for mucolipidosis type IV
     
9:15   Tyler Mark Pierson
Neurogenetics Branch, NINDS/NIH, Bethesda MD		   Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease
     
9:30   David Priestman
Department of Pharmacology, University of Oxford, Oxford UK 		  Glycosphingolipid profiling of tissues from mouse models of human lysosomal storage disorders.
     
9:45       Discussion
         
10:00       Break
         
10:15   Tim Edmunds
Genzyme Corporation, Framingham, MA 		  Biochemical characterization of the N370S glucocerebrosidase mutant: Implications for chaperone therapy
     
10:30   Kathleen Hruska
MGB, NHGRI, NIH, Bethesda, MD 		  Functional evaluation of predicted regulatory sequences at the GBA locus
     
10:45   Richard Steet
University of Georgia, Athens, GA 		  Altered chondrocyte differentiation in mucolipidosis II zebrafish
     
11:00   Margaret McGovern
Stony Brook University, Stony Brook, NY 		  Skeletal manifestations in Niemann-Pick disease due to acid sphingomyelinase deficiency
     
11:15   Edward Schuchman
Mount Sinai School of Medicine, New York, NY
  Mouse models for types A and B Niemann-Pick disease: Insights into pathogenesis and treatment
     
11:30   David Pearce
University of Rochester, Rochester, NY 		  Moving toward therapies for JCNL
     
11:45       Discussion
         
12:00       Lunch on your own
         
Session 2
Wednesday Afternoon
  Future Therapeutic
Approaches		 David Pearce,
Edward Schuchman,
Co-Chairs
         
1:00   Dwight Koeberl
Duke University Medical Center, Durham, NC 		  Muscle-targeted gene therapy in glycogen storage disease type II with adeno-associated virus serotypes 7,8, and 9
     
1:15   Perry Hackett
University of Minnesota, Minneapolis, MN 		  Comparison of gene expression in vivo from Sleeping Beauty transposons after hydrodynamic delivery or condensation by polyethylenimine and cationic lipids
     
1:30   Don Mahuran
Hospital For Sick Children, Toronto, ON, Canada 		  Identification of Ambroxol as a potential enzyme enhancement-agent for Gaucher disease
     
1:45   Ozlem Goker Alpan
MGB, NHGRI, NIH, Bethesda, MD 		  The contribution of lysosomal pathways to the pathogenesis of common neurodegenerative disorders: Glucocerebrosidase and the synucleinopathies
     
2:00   Mia Horowitz
Tel Aviv University, Ramat Aviv, Israel 		  The possible implication of lowering cholesterol level in Gaucher disease patients
     
2:15   Catherine Kielar
Institute of Psychiatry, King's College London, UK 		  Reactive and synaptic changes precede neuronal loss in mouse models of NCL
     
2:30   Jonathan Cooper
Institute of Psychiatry, King's College London, UK 		  Immunosuppression as a novel therapeutic target in Batten disease
     
2:45       Discussion
         
3:00       Break
         
3:15   Walter Low
University of Minnesota, Minneapolis, MN 		  Targeting neural stem cells in the mammalian brain with intraventricular injections of lenti, AAV5, or Sleeping Beauty vectors
     
3:30   Charles Pontikis
King's College London, UK 		  In situ perfusion in a mouse model of Sanfilippo syndrome
     
3:45   Mark Haskins
University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA 		  Intrathecal enzyme therapy in mucopolysaccharidosis I cats reduces storage throughout the brain
     
4:00   R. Scott McIvor
University of Minnesota, Minneapolis, MN 		  Gene therapy of mucopolysaccharidosis type I:  Intraventricular administration of adeno-associated virus vector transducing the human alpha-L-iduronidase gene in a murine model of the disease
     
4:15   Edward Ginns
University of Massachusetts Medical School, Shrewsbury, MA 		  Development of a novel ingestible macrophage-targeted gene therapy for Gaucher disease
         
4:30       Poster Session
         
6:00       Poster Session Adjourns
Satellite Meeting
6:00 - 7:00PM
Venetian Hotel
 

Patient Advocate Group (PAG) Meeting - Lysosomal Disease Network (open - please RSVP to David Erickson at info@lysosomaldiseasenetwork.org)
THURSDAY
February 14, 2008		   LYSOSOMAL DISEASE NETWORK
Session 3
Thursday Morning
  Research Projects Chester Whitley, Chair
         
8:30       Introduction and Overview
         
9:10       LDN Research Projects
         
9:30       LDN Research Cores
         
10:00       Break
         
    Measurement of Disease
Progression Panel		 Edward Giannini,
Elsa Shapiro,
Co - Chairs
     
10:45   Edward Giannini
Cincinnati Childrens Hospital, Cincinnati, OH 		  Development of a disease severity scoring system for Anderson-Fabry disease
     
10:55   Nicole Yanjanin
NICHD, NIH, DHHS, Bethesda, MD 		  Disease progression in Niemann-Pick disease, type C: Longitudinal
     
11:05   Edward Giannini
Cincinnati Childrens Hospital, Cincinnati, OH 		  Development of a disease severity scoring system for patients with Pompe disease
     
11:15   Jennifer Kwon
University of Rochester Medical Center, Rochester, NY 		  Quantifying the rate of neurologic decline in Batten disease in clinical trials
     
11:25   Ari Zimran
Shaare Zedek Medical Center, Jerusalem, Israel 		  Development of a disease severity scoring system for type I Gaucher disease
     
11:35       Discussion
         
11:50       Lunch Break
         
Session 4
Thursday Afternoon
  Newborn Screening Panel Rodney Howell,
John Barranger,
Co - Chairs
     
1:00   Rodney Howell
Special Assistant to the Director, NICHD, NIH
   Introduction
         
1:10   Michele Caggana
NYSDOH/Wadsworth Center, Albany, NY 		  Newborn screening for Krabbe disease in New York state:  Experience from the first year
     
1:20   Joan Keutzer
Genzyme Corporation, Framingham, MA 		  An update on newborn screening for Pompe disease
     
1:30   Olaf Bodamer
University Children's Hospital, Vienna, Austria 		  Newborn Screening in Austria
         
1:40   Christiane Auray-Blais
Universiti de Sherbrooke, Sherbrooke, Quebec, Canada 		  Mass urinary screening for Fabry disease: Is it feasible?
         
1:50   Victor De Jesus
Centers for Disease Control and Prevention 		  Recent developments on lysosomal storage disorder activities at the centers for disease control and prevention
     
2:00       Discussion
         
2:15       Break
     
    Clinical Outcomes   William Wilcox,
Ellen Sidransky,
Co-Chairs
     
2:30   Elsa Shapiro
University of Minnesota, Minneapolis, MN 		  Neuropsychological function and neuroimaging in severe and attenuated mucopolysaccharidosis
     
2:45   Patricia Dickson
LA Biomed at Harbor-UCLA, Torrance, CA 		  Initial experience with intrathecal recombinant human alpha-L-iduronidase for spinal cord compression in two mucopolysaccharidosis I patients
     
3:00       Break
         
3:15   Jeanine Utz
University of Minnesota, Minneapolis, MN 		  Delayed infusion reactions associated with enzyme replacement therapies for lysosomal storage disorders.
     
3:30   Maria Escolar
University of North Carolina, Chapel Hill, NC 		  Long-term developmental follow-up of babies treated for infantile Krabbe disease with unrelated cord blood transplantation
     
3:45   Lynda Polgreen
University of Minnesota, Minneapolis, MN 		  Growth hormone therapy improves growth in Hurler syndrome with minimal effect on scoliosis, kyphosis, or genu valgum.
     
4:00   Christine Eng
Department of Molecular and Human Genetics, Houston, TX 		  Characterization of symptom onset and clinical events in patients with Fabry disease: findings from the Fabry Registry
     
4:15
       Discussion
         
4:30       Poster Session
         
5:00       LDN Steering Committee meeting
         
6:00       Poster Session closed
         
6:30
       Banquet
         
7:30
       Banquet and Program conclude
         
FRIDAY
February 15, 2008		   CLINICAL TRIALS
Session 5
Friday Morning
  Spectrum of Clinical Outcomes   Robert Steiner,
Danilo Tagle, Co-Chairs
     
8:30   Presentation of 2007 LDN Award
     
8:45   Roscoe Brady
Scientist Emeritus, NINDS, NIH, Bethesda, MD 		  Keynote Address, 2008 LDN Awardee for Innovation and Accomplishment
         
9:15   Hans Andersson
Tulane University Medical School, New Orleans, LA 		  Clinical outcome following 8-year enzyme replacement therapy in 884 children with type I Gaucher disease (GD1)
     
9:30   David Lockhart
Amicus Therapeutics, Cranbury, NJ 		  Pharmacological chaperone treatment for lysosomal storage disorders
     
9:45   Jakub Tolar
University of Minnesota, Minneapolis, MN 		  Antioxidant neuroprotection with hematopoietic cell transplantation in cerebral adrenoleukodystrophy
     
10:00       Discussion
         
10:15       Break
         
10:30   William Wilcox
Cedars-Sinai Medical Center, Los Angeles, CA 		  Natural history of Fabry disease: Progression of the nephropathy in a large series of affected males and heterozygous females
     
10:45   Beth Thurberg
Genzyme Corporation, Framingham, MA 		  Pathology of Fabry nephropathy: Renal fibrosis may begin in adolescence
     
11:00   Elizabeth Jacklin
Royal Manchester Childrens Hopital,UK		   The natural history of Niemann-Pick disease type C
     
11:15   Neal Weinreb
University Research Foundation for Lysosomal Storage Diseases, Coral Springs, FL 		  Effect of enzyme replacement therapy with imiglucerase (Cerezyme.) every 4 weeks in patients with type I Gaucher disease
     
11:30     Discussion
     
11:45       Lunch on your own
         
Session 6
Friday Afternoon
  Gaucher Disease: Focus for Innovation   Joseph Muenzer,
Gregory Grabowski,
Co-chairs
     
1:00   Gregory Grabowski
University of Cincinnati College of Medicine, Cincinnati, OH 		  Dose-response relationships for enzyme replacement therapy with imiglucerase / alglucerase in patients with Gaucher disease type I
         
1:15   Ellen Sidransky
MGB, NGHRI, NIH, Bethesda, MD 		  The association between mutant glucocerebrosidase and Parkinsonism
         
1:30   Gregory Pastores
NYU School of Medicine, New York, NY		   Clinical trials with miglustat in patients with type 1 Gaucher disease (GD1)
     
1:45   Einat Almon
Protalix Biotheraputics, Carmiel, Israel 		  Novel enzyme replacement therapy for Gaucher disease: On-going phase III clinical trial with recombinant human glucocerebrosidase expressed in plant cells
     
2:00   Ari Zimran
Shaare Zedek Medical Center, Jerusalem, Israel 		  36 months on treatment: Open-label phase I/II long-term study of enzyme replacement therapy (ERT) with “gene-activated" human glucocerebrosidase (GA-GCB) in patients with type I Gaucher disease
     
2:15   Brandon Wustman
Amicus Therapeutics, Cranbury, NJ		   Pharmacological chaperone therapy for Gaucher disease: Mechanism of action, a survey of responsive mutations and phase I clinical trial results
     
2:30   Judith Peterschmitt
Genzyme Corporation, Cambridge, MA 		  Preliminary results of a phase II clinical trial of Genz-112638 in patients with type I Gaucher disease
     
2:45       Discussion
         
3:00       Break
         
    Longitudinal Studies and Outcomes   Christine Eng,
Ed Wraith, Co-Chairs
     
3:15   Olaf Bodamer
University Children's Hospital, Vienna, Austria 		  Natural history and treatment of MPS I: The MPS I Registry
     
3:30   Maurizio Scarpa
University of Padova, Padova, Italy 		  Neurological manifestations of Hunter syndrome: Insights from HOS, The Hunter Outcome Survey
     
3:45   Michelle Wood
Great Ormand Street Hospital, London, UK 		  Changes in gait pattern as assessed by the GaitRite walkway system in MPS II patients undergoing enzyme replacement therapy.
     
4:00   Ed Wraith
Royal Manchester Children's Hospital, Manchester, UK 		  Miglustat in Niemann-Pick disease type C (NPC)
     
4:15   Barry Byrne
University of Florida, Gainesville, FL 		  The Pompe Registry: Centralized data collection to track the natural course of Pompe disease
     
4:30   Alison Skrinar
Genzyme Corporation, Cambridge, MA		   Response to enzyme replacement therapy in 18 juvenile and adult patients with advanced Pompe disease
     
4:45       Discussion
         
5:00       Meeting Adjourns
Wednesday &
Thursday
4:30 - 6:00PM
  POSTER SESSIONS
   
Heather Adams - Genotype-phenotype associations in juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3) University of Rochester Medical Center, Rochester, NY, USA
Amelia Ahern-Rindell - Characterization of Ovine GM1 Gangliosidosis Using Immunofluoresence University of Portland, Portland, OR, United States
Hans Andersson - Clinical outcome following 8-year enzyme replacement therapy in 884 children with type 1 Gaucher disease (GD1) Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA
Elena Aronovich - Sleeping Beauty transposon-mediated long-term alpha-L-iduronidase expression and correction of lysosomal pathology in NOD/SCID mice with MPS I University of Minnesota, Minneapolis, MN, USA
Lalitha Belur - Gene delivery and biodistribution in the brain and spinal cord following intrathecal administration of adeno-associated virus serotype 5 vector University of Minnesota, Minneapolis, MN, USA
Lee Bera - Adeno-associated virus gene therapy for Tay-Sachs disease University of Minnesota, Minneapolis, MN, USA
Alessandra Biffi - Hematopoietic stem cell based gene therapy for the treatment of metachromatic leukodystrophy: Towards clinical testing , Milan, , Italy
Brian Bigger - Developing a lentiviral gene delivery system in stem cells for the treatment of Sanfilippo syndrome (MPS IIIA) University of Manchester, Manchester, Manchester, UK
Kendra Bjoraker - A natural history study of hexosaminidase deficiency University of Minnesota, Minneapolis, MN, USA
Maud Bouvier - A novel approach for a specific delivery of glucocerebrosidase in bone marrow Gaucher cells ERYtech Pharma, Lyon, Rhone-Alpes, FRANCE
Lawrence Charnas - Serum biomarkers and clinical effect of off-label use of Miglustat in GM1 Gangliosidosis University of Minnesota, Minneapolis, MN, USA
Kathy Corley - Enzyme replacement therapy: Transitioning care into community or home Children's Hospital of Western Ontario/ London Health Sciences Centre, London, Ontario, Canada
Kristina Cusmano-Ozog - An unusual case of Pompe disease presenting as muscular dystrophy Stanford University, Stanford, CA, USA
Hung Do - Pharmacological Chaperone Treatment for Pompe Disease Amicus Therapeutics, Inc., Cranbury, NJ, USA
Colleen Doyen - Data collection tools for compiling accurate health histories University of Minnesota, Minneapolis, MN, United States
Serap Emre - Molecular analysis of Turkish Gaucher disease patients Department of Medical Biology, University of Hacettepe, Ankara, , Turkey
Christine Eng - Nephropathy in Fabry disease: Baseline characteristics of 1,262 patients in the Fabry Registry Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, Houston, TX, USA
Christine Eng - Characterization of symptom onset and clinical events in patients with Fabry disease: findings from the Fabry Registry Department of Molecular and Human Genetics, Houston, TX, USA
David Erickson - Application of information technology in multi-site collaborative endeavors University of Minnesota, Minneapolis, MN, United States
Niamh Finnegan - Girls just want to have fun! Great Ormond Street Hospital for Children NHS Trust, London, England, UK
Edward Giannini - Development of a Disease Severity Scoring System for Anderson-Fabry Disease , Cincinnati, OH, USA
Ozlem Goker Alpan - The contribution of lysosomal pathways to the pathogenesis of common neurodegenerative disorders: Glucocerebrosidase and the synucleinopathies MGB/NHGRI/NIH, Bethesda, MD, USA
Gregory A. Grabowski - Guidelines for the assessment and monitoring of bone disease in children with Gaucher disease Cincinnati Children_s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, Cincinnati, OH, USA
Susan Hale - Quality-of-life changes in MPS II patients receiving enzyme replacement therapy Children's Hospital and Regional Medical Center, Seattle, Washington, Seattle, WA, USA
Nadene Henderson - The transition from childhood to adulthood in patients with lysosomal storage disorders , Pit