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


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


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


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


Day 2

8:00 am - 8:30 am


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


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


1:30 pm - 3:30 pm

Fabry Clinic at

11212 Waples Mill Road, Suite 103 Fairfax, VA 22030