Lysosomal Diseases Australia, Mucopolysaccharide & Related Diseases Society Aust. Ltd and Lysosomal Diseases New Zealand thank you for joining them in Adelaide between 23rd - 26th June 2010 at the Adelaide Convention Centre, for the 11th International Symposium on Mucopolysaccharide and Related Diseases.


The Symposium theme was "Translating Research into Clinical Reality" with a focus on the areas of newborn screening, prognostics, understanding pathology and therapeutic options. Below are links to a selection of videos and presentations from the scientific and family streams.


Scientific Program
   
THURSDAY 24 JUNE
9:00 am Looking forward from looking back [science] - Mark Haskins
[View Presentation]
11:20 am Diagnostic delay in mucopolysaccharidosis I patients: the picture in Latin America - Roberto Giugliani
[View Presentation]
11:20 am Identification of potential urinary biomarkers for the management of patients with Fabry disease - Victoria Manwaring
[View Presentation]
1:30 pm Prognostication of clinical course after early diagnosis: do we have the proper tools? - Lorne Clarke
[View Presentation]
2:20 pm Quantification of the intensity of filipin fluorescence as a diagnostic test for Niemann-Pick disease type C - Brigitte Rigat
[View Presentation]
FRIDAY 25 JUNE
9:10 am Autoimmune activation in patients with mucopolysaccharidosis III - Haiyan Fu
[View Presentation]
11:20 am A 12-month safety study of second monthly intra-articular injections of recombinant human arylsulphatase B into hip joints - David Ketteridge
[View Presentation]
2:00 pm Intrathecal infusion: the mucopolysaccharidosis I/Hurler-Scheie experience - Patricia Dickson
[View Presentation]
SATURDAY 26 JUNE
8:00 am Outcome of enzyme replacement therapy: mucopolysaccharidosis II - Simon Jones
[View Presentation]
8:00 am Outcome of enzyme replacement therapy: mucopolysaccharidosis VI - Roberto Giugliani
[View Presentation]
9:10 am A phase I/2, multicenter, open-label, dose-escalation study to evaluate the safety, tolerability and efficacy of BMN 110 in subjects with mucopolysaccharidosis IVA [Morquio A syndrome] - Christian Hendriksz
[View Presentation]
11:00 am Chaperone therapy: challenges and successes - Don Mahuran
[View Presentation]
11:40 am Umbilical cord blood transplantation in lysosomal storage disorder neonates - Joanne Kurtzberg
[View Presentation]
11:40 am Genistein improves neuropathology and corrects behaviour in a mouse model of mucopolysaccharidosis type III - Marcelina Malinowska
[View Presentation]
2:20 pm Gene therapy for the central nervous system manifestations of the lysosomal storage disorders - Ron Crystal
[View Presentation]
2:50 pm A single intravenous injection of adeno-associated virus-9 vector leads to widespread restoration of alpha-N-acetylglucosamine activity and functional correction of the central nervous system and somatic pathology in mucopolysaccharidosis IIIB mice - Haiyan Fu
[View Presentation]
Family Program
   
THURSDAY 24 JUNE
9:00 am Looking forward from looking back - David Oliver
11:00 am Mucopolysaccharidosis overview - highlighting key challenges - Jim McGill
11:20 am Unfolding clinical events following a diagnosis of MPS - Lorne Clarke
[View Presentation]
11:40 am Genotype phenotype correlation in the mucopolysaccharide and mucolipidosis disorders, with mucopolysaccharidosis I and mucolipidoses II and III as examples - Jules LeRoy
[View Presentation]
12:00 pm Overview of therapeutic approaches for MPS - Simon Jones
[View Presentation]
12:20 pm Patient Perspective - mucopolysaccharidosis type I enzyme replacement therapy experience - Joanna Wilson-Smale
1:30 pm Managing skeletal complications in mucopolysaccharide and related diseases - David Sillence
[View Presentation]
1:50 pm Surgical management of cervical and thoracic lumbar spine - Andrew Cree
[View Presentation]
2:30 pm Neuro spinal cord decompression - Jason McMillen
[View Presentation]
2:50 pm Managing carpal tunnel and trigger fingers - Damian Clarke
[View Presentation]
FRIDAY 25 JUNE
9:20 am Combined enzyme replacement therapy and heamopoietic stem cell transplantation in mucopolysaccharidosi - Carolyn Ellaway
[View Presentation]
9:20 am The role of bisphosphonates - their use and update - David Sillence
[View Presentation]
9:40 am Pamidronate a novel treatment for Bone Pain in Mucolipidosis - Jenny Noble
[View Presentation]
11:00 am Dental care for children with mucopolysaccharidosis - Mary Apps
[View Presentation]
11:40 am Anaesthetics - James Ellwood
[View Presentation]
12:00 pm Ophthalmic complications of MPS disorders - Maree Flaherty
[View Presentation]
1:50 pm Intrathecal infusion: the mucopolysaccharidosis I/Hurler-Scheie experience - Patricia Dickson
[View Presentation]
12:00 pm Enzyme replacement therapy in lysosomal storage diseases: factors affecting dispersal and uptake of enzyme following intracisternal injection - Bob Jolly
[View Presentation]
2:30 pm Understanding and treating increased intracranial pressure - Marc Patterson
[View Presentation]
2:50 pm Our family's experience of intrathecal enzyme replacement therapy - Steve Holland
[View Presentation]
4:00 pm Emerging treatments and how they work - Mark Sands
[View Presentation]
4:20 pm Enzyme replacement therapy for mucopolysaccharidosis IVA - update on clinical trials - Chris Hendriksz
[View Presentation]
SATURDAY 26 JUNE
9:00 am Patient surveys - the value of quality of life patient feedback - Christine Lavery
9:20 am Home infusions: a UK model - Gareth Jones
[View Presentation]
9:40 am Natural history studies -what are they and why are they important - Stephanie Oates
[View Presentation]
10:00 am The role of disease registries in MPS disorders - Simon Jones
[View Presentation]
11:00 am Getting the right clinical care for patients - John Forman
[View Presentation]
11:20 am Transition to adult care - an Australian perspective - Heidi Peters
[View Presentation]
11:30 am Getting the right clinical care and transition from paediatrics to adults services - what's happening in Canada - Kirsten Harkins
[View Presentation]
11:40 am USA - What's happening? - Barbara Wedehase
[View Presentation]
12:10 am Kakkis EveryLife Foundation - Pre-recorded