GRIDS-2019

Day 1- Nov 24, 2019

Neurological Involvement in Lysosomal Storage Disorders – Bench to Bedside and Beyond

08:00-08:15 Registration & Breakfast

08:15-08:45 Underlying mechanisms of neurological involvement in Sphingolipidosis:

Neuronopathic Gaucher disease as a model disease

08:45-09:15 Neurological evaluation of lysosomal disorders: Shift in focus

09:15-09:45 Psychiatric and neurological manifestations of lysosomal storage disorders

09:45-10:15 Coffee Break

10:15-10:45 Natural history of GBA associated Parkinsonism

10:45-11:15 Natural History of neuropathic Gaucher Disease

11:15-11:45 Clinical characteristics of patients with neuropathic and non-neuropathic Mucopolysaccharidoses

11:45-12:15 Natural History of GM2 Gangliosidosis

12:15-13:15 Lunch

13:15-13:45 Cellular and animal models in the development of pharmacological chaperones

13:45-14:15 UPLC-MS/MS detection of biomarkers of Mucopolysaccharidoses

14:15-14:45 Lysosomal storage diseases in children: MRI, genetics and cognitive functions- Russian experience

14:45-15:15 Development of High-Throughput Screening (HTS) Assays for Neurological Lysosomal Diseases

13:15-15:30 Coffee break

15:30-16:00 Contract research organizations in conducting clinical trials in neurological disorders

16:00-16:30 Fabry disease- Neurological outcomes

16:30-17:00 Mucopolysaccharidosis in Russia: clinical management and treatment

17:00-17:30 Urgency to develop disease targeted therapies-Patient perspectives

18:00-20:00 Dinner

Day 2- Nov 25, 2019

08:00-08:30 Breakfast

08:30-10:30 Recent advances from clinic and clinical studies for LSDs with CNS involvement

08:30-09:00 The landscape of neurological LSDs

09:00-09:30 Prodromal clinical markers of Parkinson’s disease in Gaucher patients and carriers

09:30-10:00 The story of Gaucher disease-Type 3C

10:00-10:30 Gene therapy approaches for neurological manifestations of lysosomal disorders *

10:30-11:00 Coffee break

11:00-11:30 Ambroxol for patients with Gaucher disease - The last decade *

11:30-12:00 Disease specific PROs to assess neurological status and impact of interventions in patients with various LSDs

12:00-12:30 Patient reported outcomes in neurological disorders: Hearing the patient’s voice in research and practice

12:30-13:30 Lunch - Depart

* Not accredited