11th International Symposium : On Mucopolysaccharide And Related Diseases

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