Day 1- Nov 24, 2019

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

08:00-08:30 Registration & Breakfast

Neurological manifestations and natural history of LSDs

08:30-09:00 Underlying mechanisms of neurological involvement in sphingolipidosis:

Neuropathic Gaucher disease as a model disease

09:00-09:30 Morbidity and mortality in LSDs with neurological involvement; Registries and beyond

09:30-10:00 Neurological Outcomes in Fabry disease

10:00-10:15 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 Natural History of GM2 Gangliosidosis

11:45-13:00 Lunch

Pre-clinical models and technological advances

13:00-13:30 Cellular and animal models in the development of pharmacological chaperones

13:30-14:00 UPLC-MS/MS detection of biomarkers of mucopolysaccharidoses

14:00-14:30 High throughput assays for neurological Lysosomal Disorders

14:30-15:00 Link between genetics, brain morphometry, cognitive status and clinical signs in LSDs-Lessons so far from ENIGMA SD

15:00-15:15 Coffee break

Clinical management of LSDs with CNS involvement

15:15-15:45 Combined ERT and Ambroxol therapy in patients with Gaucher related Parkinson disease

15:45-16:15 Neuropsychiatric and behavioral manifestations in LSDs

16:15-16:45 Mucopolysaccharidosis in Russia: clinical management and treatment

16:45-17:15 Urgency to develop disease targeted therapies-Patient perspectives

18:00-20:00 Dinner

Day 2- Nov 25, 2019

Advances in Clinical Management and Outcome Measures for Neuropathic Lysosomal Storage Disorders


08:00-08:15 Breakfast

08:15-10:15 Recent advances from clinic and clinical studies for LSDs with CNS involvement

08:15-08:45 From clinic, clinical trials to advocacy organizations: the landscape for neurological LSDs

08:45-09:15 Clinical trial design for disorders with primary CNS involvement

09:15-09:45 Clinical trial design for inherited neurological disorders

09:45-10:15 Management of pain in clinical trials

10:15-10:45 Gene therapy for CNS involvement in Gaucher disease

10:45-11:00 Coffee break

11:00-11:30 Contract research organizations in conducting clinical trials in neurological disorders

11:30-12:00 Development of Patient Reported Outcome measures to address neurological involvement and progression in LSDs

12:00-12:30 Patient reported outcomes (PROs) in neurological disorders

12:30-13:00 Ethical considerations of treatment of GD2 at the advent of gene therapy protocols

13:00-14:00 Lunch

14:00-17:00-Pediatric GD Clinic at LDRTC Center