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13th annual meeting (13 - 17 Feb, 2017 in San Diego, California)
WORLDSymposium is a multidisciplinary forum presenting the latest information from basic science, translational research, and clinical trials for lysosomal diseases. WORLDSymposium is often cited as the most important scientific meeting on lysosomal molecular biology, disorders and treatment.
New research and therapies on lysosomal diseases were presented at the 2017 WORLDSymposium on March 10-12 in San Diego. Hosted by the journal, Molecular Genetics and Metabolism, the abstracts are available in the February special issue on lysosomal disorders. Some of these articles, selected by our editorial board, are available as full text articles, free to download on the Home page.
Dr Ellen Sidransky, shares her highlights of the WORLDSymposium, including new treatment options for LSDs, the Gaucher Parkinson association, SRT use, and the potential of artificial exosomes.
Comment by Dr Ellen Sidransky
New treatments for LSDs available
There are several new treatments for LSDs now available or in development including Enzyme Replacement therapy (ERT) for Niemann Pick A and B, alpha-mannosidosis, lysosomal acid lipase deficiency, Farber disease and many different forms of mucopolysacchardoses. The results were discussed in both the basic science and clinical sessions and can be reviewed in abstract form in the February issue of Molecular Genetics and Metabolism.
Gaucher Parkinson association
Two different platform talks addressed the Gaucher Parkinson association with conflicting conclusions. The group of Mia Horowitz from Tel Aviv University provided further evidence in cell and drosophila models demonstrating that misfolded protein and defective ERAD contributed to parkinsonism by a gain of function mechanism.
In contrast, Yumiko Taguchi from the Mistry laboratory at Yale provided evidence using biophysical analyses, tissue culture and murine studies that the substrate glucosylsphingosine plays an active role in PD pathogenesis by directly interacting with alpha-synuclein. Thus the debate persists!
Two studies addressed longer term follow-up data on the use of Eliglucerase, the oral Substrate Reduction Therapy (SRT) drug for type 1 Gaucher disease. The first followed patients out for 2.5-5 years. Results were remarkably good and comparable to results achieved with ERT. Few adverse effects were reported and 95% of study participants elected to continue on this medication after the study ended.
The second study demonstrated that patient previously stabilized on ERT could maintain their improved parameters after a switch over to the SRT. Patients were followed up to four years.
In both studies the most concerning, albeit rare, complications were cardiac conduction abnormalities, and prolonged monitoring of treated patients for this seems advised.
A presentation by Hojun Choi from the Korea Advanced Institute of Science and Technology in Daejeon Korea included interesting results from their work aimed at delivering tagged glucocerebrosidase in artificial exosomes. They call their technology EXPLOR- exosomes for protein loading via optically reversible interaction- and now have a company called Cellex. In cell models, the glucocerebrosidase-loaded exosomes appeared to deliver active enzyme, and the delivery system the potential to cross the blood-brain-barriers. This seems worth keeping an eye on.
- February 18, 2017—San Diego, California—Comprehensive data covering six clinical trials support taliglucerase alfa treatment of adult and paediatric patients with...
All Children Diagnosed With “Adult” IVS Mutations at Birth Need Comprehensive Clinical Evaluation for Pompe DiseaseFebruary 18, 2017—San Diego, California—The presence of clinical symptoms in early infancy and possibility of detecting the IVS mutation by...
- February 18, 2017—San Diego, California—Ultra-high-accuracy combination liquid chromatography + mass spectrometry assays of galactosylceramidase, acid alpha-glucosidase, and alpha-L- iduronidase have...
Sebelipase Alfa Improved Parameters of Liver Injury and Lipid Abnormalities Over 76 Weeks in Children, Adults with Lysosomal Acid Lipase DeficiencyFebruary 18, 2017—San Diego, California—Long-term treatment with sebelipase alfa has produced early, rapid, and sustained improvements in markers of liver...
- February 18, 2017—San Diego, California—Over 35% of males in a cohort of patients with Fabry disease underwent a clinically substantial...