Session 1: Opening session
MODERATOR
Marc Berger, Clermont-Ferrand, FR and Stephan Vom Dahl, Dusseldorf, DE

08:30 - 08:45

Welcome
Marc Berger, Clermont-Ferrand, FR and Stephan Vom Dahl, Dusseldorf, DE

08:45 - 09:15

Ongoing Challenges
Timothy M. Cox, Cambridge, UK


Session 2: Phenotypic heterogeneity
MODERATOR
Catherine Caillaud, Paris, FR and Nadia Belmatoug, Paris, FR

09:15 - 09:45

Phenotypic heterogeneity throughout the world
Pramod K. Mistry, New Haven, US

09:45 - 10:00

Role of mutations/modifiers and epigenetics in the age of NGS technologies
Ellen Sidransky, Bethesda, US

10:00 - 10:10

Oral Presentation : The fruit fly Drosophila melanogaster as a model system to study Gaucher Disease
Or Cabasso, Tel Aviv, IL

10:10 - 10:20

Oral Presentation : Neurochemical abnormalities in patients with Type 1 Gaucher Disease on standard of care therapy
Reena Kartha, Minneapolis, US

10:20 - 10:30

Oral Presentation : MicroRNA interactome in Gaucher patients from Brazil: lessons from a pilot study
Marina Siebert, Porto Alegre, BR


Session 3: Neurological disorders
MODERATOR
Thomas M. Stulnig, Vienna, AT and Eugen Mengel, Mainz, DE

11:00 - 11:25

Neurological symptoms of GD1/GD3
Maciej Machaczka, Stockholm, SE

11:25 - 11:45

Molecular mechanisms underlying the association between Gaucher Disease and Parkinson Disease
Mia Horowitz, Tel Aviv, IL

11:45 - 11:55

Oral Presentation : Evaluation of the frequency of pre-motor symptoms of Parkinson Disease in adult patients with Gaucher Disease type 1
Rodrigo Starosta, Porto Alegre, Brazil

11:55 - 12:05

Oral Presentation : The role of saccades in defining Gaucher Phenotypes: Novel findings using the EyeSeeCam
Aimee Donald, Salford, UK

12:05 - 12:15

Oral Presentation : N-acetylcysteine serves as Chaperone to augment Glucocerebrosidase activity in Gaucher Disease
Reena Kartha, Minneapolis, US


Session 4: Hemato-visceral form: Is everything known?
MODERATOR
Tim Cox, Cambridge, UK and Maria D. Cappellini, Milan, IT

13:45 - 14:15

Hypothesis of Pathophysiology in the light of recent advance in spleen function
Pascal Amireault, Paris, FR

14:15 - 14:30

Erythroid abnormalities in Gaucher Disease
Mélanie Franco, Paris, FR

14:30 - 14:45

MGUS, sphingolipids and Gaucher Disease
Klauss-Dieter Preuss, Homburg, DE

14:45 - 15:00

Oral Presentation : Lysolipids are underlying antigens of monoclonal gammopathy in Gaucher Disease
Shiny Nair, New Haven, US

15:00 - 15:10

Oral Presentation : Enhanced erythrophagocytosis in Gaucher Disease
Lucie Dupuis, Paris, FR

15:10 - 15:20

Oral Presentation : Lymphocyte apoptosis defect in Gaucher Disease
Maja Di Rocco, Genoa, IT

15:20 - 15:30

Oral Presentation : Delineating the role of myeloid cells and brain microglia in Gaucher Disease
Venkata Boddupalli, New Haven, US


Session 5: Biomarkers
MODERATOR
Pilar Giraldo, Zaragoza, ES and Roseline Froissart, Lyon, FR

16:00 - 16:30

What is a performing biomarker? What about biomarkers of Gaucher Disease
Hans Aerts, Leiden, NL

16:30 - 16:45

Lyso-GL1: an update
Magali Pettazzoni, Lyon, FR

16:45 - 17:00

Predictive value of Gaucher Disease biomarkers, a challenge
Patrick Deegan, Cambridge, UK

17:00 - 17:10

Oral Presentation : Longitudinal follow-up (4 years) of lyso-Gb1 in children with Gaucher Disease
Ari Zimran, Jerusalem, IL

17:10 - 17:20

Oral Presentation : Biomarker responses after long-term treatment with eliglustat in four completed clinical trials
Pramod Mistry, New Haven, US

17:20 - 17:30

Oral Presentation : Activity-based probes: versatile tools for investigations on glucocerebrosidase
Martijn Van Der Lienden, Leiden, NL


Session 6: Bone disease, what’s new?
MODERATOR
Maja Di Rocco, Genoa, IT and Agathe Masseau, Nantes, FR

08:15 - 08:35

Impact of the deficit in Glucocerebrosidase on osteoblast/osteoclasts
Derralynn Hughes, London, UK

08:35 - 08:55

Medical imaging and follow-up
Nadia Belmatoug, Paris, FR

08:55 - 09:10

Oral Presentation : Effects of long-term oral eliglustat treatment on skeletal manifestations in Gaucher Disease type 1: results from our completed clinical trials
Timothy Cox, Cambridge, UK

09:10 - 09:20

Oral Presentation : A Dishevelled dysregulation induce the Wnt signaling impairment associated with type 1 Gaucher Disease (GD1) related bone defects
Enrico Moro, Padova, IT

09:20 - 09:30

Oral Presentation : Bone crisis in small bones are not uncommon even in enzyme replacement therapy in Gaucher Disease
Marcio Andrade-Campos, Zaragoza, ES


Session 7: Access to care
MODERATOR
Stephan vom Dahl, Dusseldorf, DE and Maciej Machaczka, Stockholm

09:45 - 09:55

Access to care in Europe, Role of the EWGGD network
Stephan vom Dahl, Dusseldorf, DE

09:55 - 10:10

IGA updates
Vesna Aleksovska, Gloucestershire, UK

10:10 -10:20

IGA’s role in helping the Gaucher community for accessing care
Tanya Collin-Histed, Gloucestershire, UK

10:20 - 10:35

Specific country problems
Huma Arshad Cheema, Lahore, PK

10:20 - 10:35

Challenges of Management of Gaucher Disease in Sudan (treatment and clinical care)
Mohammed Basher, Sudan

10:35 - 10:50

Humanitarian Aid
Bonnie Anderson, Cambridge, US

10:35 - 10:50

Humanitarian Aid
Michael Wajnrajch, New York, US

10:35 - 10:50

Humanitarian Aid
Zoya Panahloo, Zug, CH

10:50 - 11:00

Questions and answers

11:00 - 11:10
Oral Presentation : Long term follow-up of 101 untreated adult patients with type 1 Gaucher Disease
Tama Dinur, Jerusalem, IL

11:10- 11:20
Oral Presentation : Untreated patients with type 1 Gaucher Disease: who are they? Results from the Gaucher non-treated study (GANT study)
Christine Serratrice, Geneva, CH

11:20 - 11:30

Oral Presentation : Outcomes of unplanned pregnancies in women and partners of men with Gaucher Disease type 1 participating in phase 2 or phase 3 eliglustat clinical trials
Elena Lukina, Moscow, RU


Session 8: Personalisation of treatment
MODERATOR
Patrick Deegan, Cambridge, UK and Christine Serratrice, Geneva, CH

13:30 - 14:00

Debate: Must we treat all Gaucher Disease patients… for their lifetime?
Eugen Mengel, Mainz, DE, Carla Hollak, Amsterdam, NL

14:00 - 14:15

What did intra-cellular PK of imiglucerase teach us?
Marc Berger, Clermont-Ferrand, FR

14:15 - 14:30

Eliglustat: an update (adapted to all patients?)
Elena Lukina, Moscow, RU

14:30 - 14:35

Open discussion

14:35 - 14:45

Digital health/patient reported outcomes
Derralynn Hugues, London, UK

14:45 - 14:55

Oral Presentation : Venglustat in adult Gaucher Disease Type 3: Interim safety, pharmacology and exploratory efficacy from a Phase 2 Trial in combination with Imiglucerase (LEAP)
Raphael Schiffmann, Texas, US

14:55 - 15:05

Oral Presentation : Safety, tolerability and pharmacokinetics of oral venglustat in Parkinson’s disease patients with a GBA mutation
M. Judith Peterschmitt, Cambridge, US

15:05 - 15:15

Oral Presentation : Gene therapy for neuronopathic Gaucher Disease
Giulia Massaro, London, UK

15:45 - 16:00

Oral Presentation : New cellular models of Gaucher Disease exploiting CRISPR/Cas9 technology
Eleonora Pavan, Udine , IT

16:00 - 16:15
Oral Presentation : Liver-directed AAV gene therapy for Gaucher Disease results in sustained case expression and greater bioavailability for macrophage uptake than velaglucerase alfa
Carlos Miranda, Stevenage, UK

16:15 - 16:30
Oral Presentation : Zebrafish as Gaucher Disease research models
Lindsey Lelieveld, Leiden, NL

16:30 - 16:45

Oral Presentation : Hippo and necroptosis pathways are involved in cell growth defects in Gaucher Disease
Daria Messelodi, Bologna, IT


Session 9: Perspectives
MODERATOR
Stephan vom Dahl, Dusseldorf, DE and new EWGGD chairman

08:00 - 08:30

New therapeutic approaches
James Shayman, Michigan, US

08:30 - 08:50

Role, assignments, issues of EWGGD Network
Stephan vom Dahl Dusseldorf, DE and new Chairman

08:50 - 09:15

Priority challenges (synthesis of the congress)

09:15 - 09:35

Awards ceremony for best abstracts: Oral and Poster
Scientific Committee

09:35 - 09:55

Concluding remarks
Marc Berger, Clermont-Ferrand, FR and Stephan Vom Dahl, Dusseldorf, DE