Agenda at a Glance

 

Wednesday, August 1st Session  Speaker Location 
5 to 8 p.m. Registration  Maritime Foyer 
Thursday, August 2nd Session Speaker Location
1 to 1:30 p.m. The complexity of “simple” monogenic diseases: insights from Niemann-Pick disease type C Frances Platt, PhD, FMedSci
UK
Grande Ballroom B, C
1:30 to 1:45 p.m. Synaptic Dysfunction in Sanfilippo Type C Syndrome Camila De Britto Para De Aragao
Canada
Grande Ballroom B, C
1:45 to 2 p.m. Neuropathology and neuroimaging reveal progressive myelin related changes in the white matter of a canine model of MPS I Martin Egeland, PhD
United States
Grande Ballroom B, C
2 to 2:15 p.m. Intracerebroventricular delivery of BMN 250 is effective in preventing neuropathological changes in the cerebellum and forebrain of a canine model of Sanfllippo Type B Martin Egeland, PhD
United States
Grande Ballroom B, C
2:15 to 2:30 p.m. SGSH haploinsufficiency: a risk factor for early-onset neurodegenerative disease? Kim Hemsley, PhD
Australia
Grande Ballroom B, C
2:30 to 2:45 p.m. Brain targeted stem cell gene therapy corrects Mucopolysaccharidosis type II via multiple mechanisms Rebecca Holley
UK
Grande Ballroom B, C
2:45 to 3 p.m. Pharmacology of BMN 250: Brain magnetic resonance studies in treated MPS IIIB affected dogs Igor Nestrasil, MD, PhD
United States
Grande Ballroom B, C
3 to 3:30 p.m. Break and Exhibitor Session Harbor Island 2, 3
3:30 to 5 p.m. Opening Remarks and Combined Sessions Grande Ballroom A,B, C
3:30 to 4 p.m. Opening Plenary and Welcoming Address Patti Dickson, MD and
Stephanie Bozarth, MSW
United States
Grande Ballroom
3:30 to 3:40 p.m. 21st Century Rare Disease Ecosystem – Research, Science, Regulatory Patient Centered Care Video Message: Emil Kakkis, MD, PhD United States Grande Ballroom
3:40 to 3:55 p.m. MPS Adult Keynote Presenter Melissa Bilodeau, MPS IVA
Canada
Grande Ballroom
3:55 to 4:15 p.m. MPS Adult Keynote Presenter Carolina Hartman, MPS VI
Brazil
Grande Ballroom
4:15 to 5 p.m. Scientific Challenges of New Therapies in the 21st Century Brian Bigger, PhD
UK
Grande Ballroom
5 to 5:30 p.m. Break and Exhibitor Session Harbor Island 2, 3
5:30 to 7 p.m. Scientific Conference Poster Session Nautilus
5:30 to 7 p.m. Family Track II Grande Ballroom A
5:30 to 6 p.m. Key Insights Into Disease Pathogenesis
Importance for MPS Societies Involvement
Patient Centered Care
Joseph Muenzer,  MD, PhD
United States
Grande Ballroom A
6 to 6:30 p.m. Newborn Screening, Collapsing the Diagnostic Odyssey
for Future Generations
Barbara Burton, MD
United States
Grande Ballroom A
6:30 to 7 p.m. Diagnostic Journey, Unlocking the Mystery
for Rare Diseases
Jama Nateqi, PhD
Austria
Grande Ballroom A
7 to 9 p.m. Welcome Reception Bayview Lawn
Friday, August 3rd Session Speaker Location
7 to 8:30 a.m. Breakfast Pavilion
8:30 to 9:00 a.m. How Hyaluronan controls the immune system Richard Gallo, MD, PhD
United States
Grande Ballroom B, C
 9:00 to 9:15 a.m. Impaired Mitophagy in Sanfilippo A mice Causes Hypertriglyceridemia and Brown Adipose Tissue Activation Philip Gordts, PhD
United States
Grande Ballroom B, C
9:15 to 9:30 a.m. Induction of immune tolerance to enzyme replacement therapy in MPS I Simon Jones
UK
Grande Ballroom B, C
9:30 to 10 a.m. Break and Exhibitor Session Harbor Island 2, 3
10 to 10:15 a.m. Progressive tissue defects in Mucopolysaccharidosis type II animal models and cell signaling dysregulation: a novel mechanistic link beyond the glycosaminoglycans accumulation paradigm Enrico Moro, PhD
Italy
Grande Ballroom B, C
10:15 to 10:30 a.m. Cardiovascular imaging in MPS III patients reveals early left ventricular dysfunction Stephanie Nijmeijer, MD
Netherlands
Grande Ballroom B, C
10:30 to 10:45 a.m. Interleukin-1 receptor antagonist: a potential anti-inflammatory therapy for MPSIIIA Helen Parker
UK
Grande Ballroom B, C
10:45 to 11 a.m. Pentosan polysulfate treatment in MPS Calogera Simonaro, PhD
United States
Grande Ballroom B, C
11 to 11:15 a.m. Newborn screening for mucopolysaccharidoses by GAG assay with tandem mass spectrometry Shunji Tomatsu, MD, PhD
United States
Grande Ballroom B, C
11:15 to 11:30 a.m. Towards Chaperone Therapy for Mucopolysaccharidosis type IIIC Xuefang Pan, PhD
Canada
Grande Ballroom B, C
11:30 a.m. to 1:15 p.m. Lunch Pavilion
1:15 to 1:45 p.m. Hyaluronan regulates neural progenitor cells: Implications for neurodegenerative disease Larry Sherman, PhD
United States
Grande Ballroom B, C
1:45 to 2 p.m. Effect of an N-acetylgalactosamine-6-sulfate sulfatase pharmacological chaperon on Morquio A fibroblasts Carlos Almeciga, Bpharm, PhD
Colombia
Grande Ballroom B, C
2 to 2:15 p.m. Profile of natural history in patients with mucopolysaccharidosis type II: insights from the Hunter Outcome Survey (HOS) Simon Jones
UK
Grande Ballroom B, C
2:15 to 2:30 p.m. High dose genistein aglycone in Sanfilippo syndrome: results of a randomized, double-blinded, placebo controlled clinical trial Simon Jones
UK
Grande Ballroom B, C
2:30 to 3 p.m. Break and Exhibitor Session Harbor Island 2, 3
3 to 3:15 p.m. Phenotypic Effects of Intracerebroventricular
rhNAGLU-IGF2 Enzyme Replacement Therapy in Sanfilippo B mouse model
Shih-hsin Kan
United States
Grande Ballroom B, C
3:15 to 3:30 p.m. Evaluation of a Plant-Based Recombinant Protein for the Treatment of Mucopolysaccharidosis I Lorne Clarke, MD
Canada
Grande Ballroom B, C
3:30 to 3:45 p.m. Efficacy and Safety of Vestronidase Alfa Enzyme Replacement Therapy in Subjects with Mucopolysaccharidosis VII <5-Years-Old  Heather Lau
United States
Grande Ballroom B, C
3:45 to 4 p.m. ICV-administered BMN 250 (NAGLU-IGF2) is well tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo Syndrome Type B (MPS IIIB) Nicole Muschol, PhD
Germany
Grande Ballroom B, C
4 to 4:15 p.m. Phase I/II clinical trial of intra-cerebroventricular enzyme replacement therapy for neuronopathic mucopolysaccharidosis type II Torayuki Okuyama, MD, PhD
Japan
Grande Ballroom B, C
4:15 to 4:30 p.m. High throughput newborn screening of Mucopolysacharidosis Types I, II, IIIB, IVA, IVB, VI and VII using a flexible, automated platform Raj Singh, PhD
United States
Grande Ballroom B, C
4:30 to 4:45 p.m. Newborn Screening and Post-Screening Diagnosis/Prognosis of MPS Disorders Michael H. Gelb, PhD
United States
Grande Ballroom B, C
4:45 to 5 p.m. Natural history data for young subjects with Sanfilippo Syndrome Type B (MPS IIIB) Paul Harmatz, MD
United States
Grande Ballroom B, C
5:30 to 7 p.m. Poster Session Nautilus
Saturday, August 4th Session  Speaker Location 
7 to 8:30 a.m. Breakfast Pavilion
8:30 to 9 a.m. The merits of haematopoietic stem cell gene therapy in treating patients with inherited diseases Adrian Thrasher, PhD MB BS FSB FMedSci FRCP FRCPath FRCPCH
UK
Grande Ballroom B, C
9 to 9:15 a.m. A novel adeno-associated virus capsid with enhanced neurotropism for the treatment of Mucopolysaccharidosis IIIC Brian Bigger, PhD
UK
Grande Ballroom B, C
 9:15 to 9:30 a.m. MPSIIIA hematopoietic stem cell gene therapy: Pre-clinical Safety and Efficacy work up for a phase I/II clinical trial  Brian Bigger, PhD
UK
Grande Ballroom B, C
9:30 to 10 a.m. Break and Exhibitor Session Harbor Island 2, 3
10 to 10:15 a.m. International consensus recommendations for the management of MPS IVA/VI: guidelines process Christian Hendriksz, MD – United Kingdom Grande Ballroom B, C
10:15 to 10:30 a.m. Alternative dosing for enzyme replacement therapy with Idursulfase in Mucopolysaccharidosis II: every other week 1mg/kg infusions – preliminary results Dafne Horovitz
Brazil
Grande Ballroom B, C
10:30 t0 10:45 a.m. Gene Therapy via Intracisternal (IC) Route of Administration Shows Promise in Treating Patients with Mucopolysaccharidosis (MPS) Types I and II Jacob Wesley
United States
Grande Ballroom B, C
10:45 to 11 a.m. Novel Surgical Reconstruction Rescues Life-threatening Severe Tracheal Obstruction in Mucopolysaccharidosis IVA Shunji Tomatsu, MD, PhD
United States
Grande Ballroom B, C
11 to 11:15 a.m. Development of AAV Gene Therapy for Morquio A Syndrome Shunji Tomatsu, MD, PhD –
United States
Grande Ballroom B, C
11:15 to 11:30 a.m. Exogenous rabbit anti-rhIDU IgG alters the distribution of intravenous enzyme replacement therapy in MPS I mouse model Shih-hsin Kan
United States
Grande Ballroom B, C
11:30 a.m. to 1:15 p.m. Lunch Pavilion
 1 to 1:15 p.m. AAV gene therapy LYS-SAF302 demonstrates widespread sulfatase distribution in primate brain and correction of disease pathology in MPSIIIA mice Ralph Laufer
United States
Grande Ballroom B, C
1:15 to 1:30 p.m. Aberrant glycosaminoglycans from distinct Mucopolysaccharidosis subtypes have unique effects on neurogenesis Rebecca Lehmann
Australia
Grande Ballroom B, C
1:30 to 1:45 p.m. Developing a stem cell therapy for Mucopolysaccharidosis type III B using CRISPR/Cas9 technology George Lopez
United States
Grande Ballroom B, C
1:45 to 2 p.m. Intra-articular AAV9 cx-iduronidase gene therapy in the canine
model of mucopolysaccharidosis type I
Raymond Wang, MD –
United States
Grande Ballroom B, C
6:30 pm Banquet Dinner and Awards Grande Ballroom A