Program Overview
· Introduction to late/adult onset and attenuated forms of LSDs
· Reports from recent clinical studies for LSDs with CNS involvement
· Basic research findings to elaborate on underlying mechanisms behind LSDs
· Recent developments in clinical management and therapeutic guidelines
· Patient perspectives about the diagnostic odyssey
· Industry perspectives on how to better serve the patients with late onset LSDs
· Advanced therapies and treatment options with special focus on gene therapies
The DETAIL program
Day 1
8:00 am - 8:30 am
Registration & Breakfast
8:30 am - 10:00 am
Late and Attenuated forms of Lysosomal diseases
08:30-09:00 ERT, SRT & Pharmacological chaperones: Overview of therapeutic strategies
in Fabry disease
09:00-09:30 Outcome of therapy in patients with Fabry disease
09:30-10:00 Associated disorders and comorbidities versus common features identified among
LSDs: Gaucher Disease as the Prototype
10:00 am - 10:15 am
Coffee break
10:15 am - 11:45 am
Recent Clinical studies for LSDs with CNS involvement
10:15-10:45 Small molecule therapies for Gaucher disease and GBA associated Parkinsons
disease
10:45-11:15 Functional Performance In Late-Onset GM2 Gangliosidosis (Tay-Sachs And
Sandhoff Diseases), Longitudinal Data Over 3 Consecutive Years
11:15-11:45 Clinical management and transitioning of patients with Lysosomal Diseases to
adult care
11:45 am - 1:00 pm
LUNCH
1:00 pm - 3:00 pm
Underlying mechanisms in LSDs
01:00-01:30 Autophagy and mitochondria in the pathogenesis of Late-onset Pompe disease
01:30-02:00 Bone tissue bioprinting to study bone pathology
02:00-02:30 Late attenuated forms of LSDs: Other side of the coin or a different coin?
02:30-03:00 The involvement of ERAD and UPR in transcriptional process in lysosomal
disorders
3:00 pm - 3:15 pm
Coffee break
3:15 pm - 5:15 pm
Advanced strategies and Novel therapies
03:15-03:45 Targeting Glucosylceramide Synthesis in the Treatment of Fabry Disease
03:45-04:15 Nanoscale therapeutics and novel targets for drug delivery
04:15-04:45 Gene therapy for Lysosomal storage disorders-Recent advances
04:45-05:15 Gene therapy and other novel approaches for treatment of Pompe Disease
6:00 pm
Dinner
Day 2
8:00 am - 8:30 am
Breakfast
8:30 am - 10:30 am
Clinical management and therapeutic guidelines
08:15-08:45 Developments in Clinical Management Guidelines for Gaucher disease
08:45-09:15 Cognitive endpoints for therapy development for neuronopathic
mucopolysaccharidoses
09:15-09:45 Consensus clinical management guidelines in Niemann Pick C1
09:45-10:15 Multiple Myeloma and other hematologic malignancies in Gaucher disease
10:15 am - 10:30 am
Coffee break
10:30 am - 12:30 pm
New approaches towards diagnosis of Lysosomal Storage Disorders
10:30-11:00 Biomarkers role in diagnosis and management of lysosomal disorders
11:00-11:30 Analysis of massively parallel sequencing data sets to predict unrecognized late-
onset Niemann-Pick disease, type C1
11:30-12:00 How to approach variants of uncertain significance (VOUS) in GLA gene
12:00-12:30 Patient perspectives in diagnostic odyssey
12:30 pm -1:30 pm
Lunch
1:30 pm - 3:30 pm
Fabry Clinic at
11212 Waples Mill Road, Suite 103 Fairfax, VA 22030