SCIENTIFIC PROGRAM
FRIDAY JUNE 5, 2020
9h00 – 9h10 Introduction S. Auvin (Paris, France)
9h10 – 9h50 GLUT1 deficiency: an overview - TBC
9h50 – 10h10 GLUT1-DS: Update of the research of the last 5 years S. Auvin (Paris, France)
10h10 – 10h30 Clinical and genetic overview of Glut-1 deficiency and novel treatment options P.Striano (Genova, Italy)
10h30 – 11h00 : BREAK
11h00 – 11h20 MetaGLUT1: a diagnosis tool for GLUT1-DS V. Petit (Paris, France)
11h20 – 11h40 How to explain GLUT1-DS with absence of SCL2A1 gene variant I. Scheffer (Melbourne, Australia)
11h40 – 12h00 Is there a correleation between genotype & phenotype in GLUT1-DS T. Granata (Milan, Italy)
12h00 – 12h20 Can we predict the phenotype of GLUT1-DS ? S. Zuberi (UK)
12h20- 12h40 Update on daily KD management in GLUT1-DS E. Neal (London, UK)
12h40 - 13h00 Transition to adult care for GLUT1-DS patients Adela Della Marina (Germany)
13h00 – 14h00 : LUNCH
14h00 – 14h30 Patients with GLUT1-DS resistance to the KD M. Willemsen (Netherlands)
14h30 – 15h00 Neuropsychological Assement in GLUT1DS and new perspectives V. Di Giorgis (Italy)
15h00 – 15h30 Chronic neuroglycopenia on resting state networks A-E. Vaudano (Italy)
15h30 – 16h00 : BREAK
16h00 – 16h10 Effect of ketogenic diet on nutritional status and gut microbiota A.Tagliabue (Italy)
16h10 – 16h20 C7 F.Mochel (France)
16h20 – 16h40 C10 H. Cross (United Kingdom)
16h40 – 17h00 An innovative RNA therapy (SIMEUPs) for Glut-1 deficiency - TBC
17h00 – 17h20 Gene therapy S. Jagadish (USA)
17h40 : END
SATURDAY JUNE 6, 2020
9h00 – 9h10 GLUT1 France M. Sorret (France)
9h10 – 9h20 GLUT1 Italy M. Lucente (Italy)
9h20 - 9h30 GLUT1 Germany H. Osborne (Germany)
9h30 – 9h50 GLUT1-DS European Federation M. Barone (Italy)
9h50 – 10h10 GLUT1-DS consensus J. Klepper (Germany)
10h10 – 10h40 WORKSHOP 1 & 2
- Workshop 1 - KD Management M. Williemsen (Netherlands)
- Workshop 2 - Clinical trials - S. Auvin (France)
10h40 – 11h10 : BREAK
11h10 – 11h40 WORKSHOP 3 & 4
- Workshop 3 - Epilepsy H. Cross (UK) I. Scheffer (Australia)
- Workshop 4 - Movement disorders F. Mochel (France) V. Di Giorgis (Italy)
11h40 – 12h10 General discussion J. Klepper (Germany) S. Auvin (France)
12h10 – 12h40 Invitation to Germany 2022 J. Klepper (Germany)
12h45 : END