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Scientific Program

Preliminary program - subject to changes

International Symposium on MPS and Related Disorders

Thursday, 14. July 2016
15:00 - 15:30Opening Ceremony
15:30 - 16:00Opening Lecture
Chair: Kurt Ullrich
15:30 - 16:00Latest Understanding in the Biology of the Lysosomal Network
Volkmar Gieselmann, Germany
16:00 - 18:00
Putting the Patient at the Center of Care
Chair: Christine Lavery and Kurt Ullrich
16:00 - 16:30The Scientific Challenges to Delivering New Therapies
for the MPS Diseases Brian Bigger, UK
16:30 - 17:00Clinical Trial and Access to New Therapies for MPS Diseases
Emil D. Kakkis, USA
17:00 - 17:30Treatment and Monitoring of MPS Patients
with Multisystemic Involvement Roberto Giugliani, Brazil
17:30 - 18:00Empowering Patients and the Future Role of
Patient Organisations Georg Schetter, Germany
18:00 - 20:00Welcome Reception


Friday, 15. July 2016
08:45 - 10:15Clinical Management
Cair: Bryan Winchester and Joseph Muenzer
08:45 - 09:05How to Predict the Clinical Phenotype in MPS? Roberto Giugliani, Brazil
09:05 - 09:30Neurodevelopment in MPS Syndromes, Natural History
and Treatment Outcomes Maria Luisa Escolar, USA
09:30 - 09:50Neurological Problems in MPS:
Clinical Manifestations and Treatment Maurizio Scarpa, Germany
09:50 - 10:15The Natural History of Cognitive, Behavioural and Neuroimaging Characteristics of MPS III 
Elsa Shapiro, USA
10:15 - 10:45Coffee Break
10:45 - 12:15
Pathophysiology of Selected Disorders
Chair: Paul Saftig and Konrad Sandhoff
10:45 - 11:10Pathological Cascades in Heparan Sulfate Storage Disorders: Neuroinflammation, Protein Trafficking Defects and Tauropathy Alexey V. Pshezhetsky, Canada
11:10 - 11:35Skeletal Defects in Mouse Models of Lysosomal Storage Disorders
Thorsten Schinke, Germany
11:35 - 11:55Influence of Stored GAGs on Growth Factor Interaction
Naomi van Vlies, The Netherlands
11:55 - 12:15Vasculopathy in MPS Julia Hennermann, Germany
12:15 - 14:00Lunch Break
14:00 - 15:30Clinical Management
Chair: Maria Luisa Escolar and Carla Hollak
14:00 - 14:25Sleep Disorders in MPS: Changes of the Circadian Rhythm
Stewart Rust, UK
14:25 - 14:40Pregnancy in MPS Patients Susanne Kircher, Austria
14:40 - 15:05The Experiences of Women with MPS during Pregnancy and Beyond
Deborah Cavell, UK
15:05 - 15:30MPS Transition- Ensuring Safe Care in Adulthood
Christian Hendriksz, UK
15:30 - 16:00Coffee Break
16:00 - 18:00
Understanding Lysosomal Diseases
Chair: Angela Schulz and Simon Jones
16:00 - 16:30Mechanisms of Neurodegeneration in LSDs Brian Bigger, UK
16:30 - 17:00Role of Lysosomes in Bone Development 
Carmine Settembre, Italy
17:00 - 17:30Identification of Modifier Genes in Lysosomal Storage Disorders
Andres Klein, Italy
17:30 - 18:00 Disorders due to Defects of Lysosomal Membrane Proteins
Paul Saftig, Germany
18:00 - 20:00Remembrance Ceremony
20:00 - 22:00 Poster Session


Saturday, 16. July 2016
08:45 - 10:15Pitfalls and Advances in Therapy
Chair: Michael Beck and Frits Wijburg
08:45 - 09:10When to Start and to Stop ERT in MPS? Simon Jones, UK
09:10 - 09:30How to Manage Immunological Reactions Paul Harmatz, USA
09:30 - 09:55Transplantation Experiences in MPS Diseases:
Success, Limitations and Future Considerations 
Paul J. Orchard, USA
09:55 - 10:15Pentose-Sulfate: New Mechanistic Insights
as a Treatment for MPS Calogera Simonaro, USA
10:15 - 10:45Coffee Break
10:45 - 12:15
New Development in Related Disorders
Chair: Paul Harmatz and Paul John Orchard
10:45 - 11:05Craniofacial and Oral Anomalies in Mucolipidosis II
Sandra Markmann, Germany
11:05 - 11:30ERT in Lysosomal Acid Lipase Deficiency Simon Jones, UK
11:30 - 11:55Mannosidosis: Genetic, Clinical Findings,
Options of Treatment Line Gutte Borgwardt, Denmark
11:55 - 12:15Intrathecal ERT in CLN2 Angela Schulz, Germany
12:15 - 13:45Lunch Break
13:45 - 15:15
New Approaches to Therapies
Chair: Roberto Giugliani and Carmine Settembre
13:45 - 14:10Gene Therapy of Brain Endothelial and Ependymal Cells 
Beverly L. Davidson, USA
14:10 - 14:30Enhancing Lysosomal Function through TFEB:
A New Therapeutic Approach to Lysosomal Storage Disorders
Marco Sardiello, USA
14:30 - 14:50Use of Nanoparticles for Therapy of MPS Ursula Matte, Brazil
14:50 - 15:15Towards Stem Cell Therapy for Children with White Matter Disease
Vivi M. Heine, The Netherlands
15:15 - 16:00Coffee Break
16:00 - 16:40
Breaking News
Chair: David Begley, Brian Bigger and Frits Wijburg
16:00 - 16:20Fucosidosis: Mouse Model & Therapy Torben Lübke, Germany
16:20 - 16:40Intranasal Gene Delivery of AAV9 Iduronidase: A Non-invasive and Effective Gene Therapy Approach for Prevention of Neurologic Disease in a Murine Model of MPS Type I Lalitha Belur, USA
16:40 - 17:30Oral Poster Presentation
Chair: David Begley, Brian Bigger and Frits Wijburg
16:40 - 16:50Award Ceremony
Supportet by Kindness for Kids, Brains for Brain and ESGLD
16:50 - 17:20Oral Poster Presentations
19:30 - 22:00Conference Dinner


Sunday, 17. July 2016
08:30 - 10:30Learnings from Recent Advances in Therapy of LSDs
Chair: Andres Klein and Nicole Muschol
08:30 - 08:55Delivery of Enzyme - Fusion Proteins to the Brain Ruben Boado, USA
08:55 - 09:25Intrathecal ERT in MPS Patricia Dickson, USA
09:25 - 09:55Gene Therapy for Neurologic Manifestation of MPS Joseph Muenzer, USA
09:55 - 10:15Corneal Transplantation in MPS Susanne Pitz, Germany
10:15 - 10:45Coffee Break
10:45 - 12:15MPS Clinical Management - Best Care
Chair: Emil Kakkis and Kurt Ullrich
10:45 - 11:10 The Changing Face of Anaesthesia for the Mucopolysaccharidoses
Robert Walker, UK
11:10 - 11:35Orthopaedic Management of Thoracic Spine Disease
Neil Oxborrow, UK
11:35 - 11:55Hip Disease: Natural History and Possible Indications
for Orthopaedic Interventions Andrea Borgo, Italy
11:55 - 12:15The Role of Clinical Guidelines in Access to High Cost Therapies
Carla Hollak, The Netherlands
12:15 - 12:45The Future: Combination Therapies? Frits Wijburg, The Netherlands
12:45 - 13:00
Presentation for 2018 Patricia Dickson, USA /
Farewell