Day 1  Thursday 8th September

14:00 – 18:00 Registration – Management School Atrium

18:00 – 18:15 Opening Ceremony – Welcome Address
18:15 – 18:30 Flash talk awards
18:30 – 19:30 KEYNOTE SPEAKER 1 (45 minutes talk + 15 minutes questions)
                         Overview of Gene Therapy for Lysosomal Diseases
                          Professor Simon Jones, Manchester University Hospitals NHS Foundation Trust, UK
                          Chairs: Volkmar Gieselmann, Nicole Muschol

19:30 – 20:00 BREAK

20:00 onwards GET TOGETHER and DINNER – Barkers

Day 2  Friday 9th September – Lysosome Function

07:00 – 08:15 Breakfast – Marketplace or Hotel

ALL sessions will take place in Management School Lecture Theatre 18

Chairs: Markus Damme, Bruno Gasnier

08:30 – 09:30 KEYNOTE SPEAKER 2 (45 minutes talk + 15 minutes questions)
LYSET – A Key Protein in Lysosome Biogenesis
                        Professor Sabrina Jabs, University of Kiel, Germany
09:30 – 09:50 O01 Multiple lysosomal proteases knock-out models reveal new insights into their role in lysosomal proteolysis, autophagy, and mTORC1 activity (F. Bleibaum)
09:50 – 10:10 O02 The lysosomal enzyme trafficking factor LYSET enables nutrient generation from extracellular proteins (C. Pechincha)
10:10 – 10:30 O03 Phosphorylation-independent cytoplasmic retention of acetylated TFEB (A. Laudicina)
10:30 – 11:00 Coffee Break and Refreshments
11:00 – 11:20 O04 Role of the Cl-/H+ exchanger ClC-7 in maintaining lysosomal morphology and function (S. Bose)
11:20 – 11:40 O05 Crosstalk of class 3 PI3K signaling and lysosomal membrane damage response in LSDs (E. Le Guillou)
11:40 – 12:00 O06 Direct control of lysosomal catabolic activity by mTORC1 through regulation of V- ATPase assembly (E. Ratto)
12:00 – 13:00 ESGLD General Assembly (For ESGLD members only – Management School Lecture Theatre 18

13:00 – 14:00 Lunch Break – Management School Atrium

(13:00 – 14:00 ESGLD Board Meeting – lunch in a separate room) – Management School Ground Floor Meeting Room

14:15 – 18:00 Networking – (be at meeting point at 14:15, coaches depart at 14:30)
                          White Scar Cave coach will depart at 14:00

Scientific Programme Continues…

Management School Lecture Theatre 18
Chairs: Thomas Braulke, Mia Horowitz

18:30 – 19:30 KEYNOTE SPEAKER 3 (45 minutes talk + 15 minutes questions)
The interplay of autophagic processes and lysosomal homeostasis
                          Dr Oliver Florey, Babraham Institute, UK
20:00 onwards DINNER – Barkers

Day 3  Saturday 10th September – Therapies

07:00 – 08:15 Breakfast – Marketplace or Hotel

ALL sessions will take place in Management School Lecture Theatre 18
Chairs: Sandra Alves, Shaun Wood

Therapies – (15 minutes talks + 5 minutes questions)
08:30 – 08:50 O07 Improved enzyme replacement therapy of metachromatic leukodystrophy in mice using a superstable mutant of human arylsulfatase A (V. Gieselmann)
08:50 – 09:10 O08 A cell-based therapy for Pompe disease: transplantation of ex-vivo expanded muscle regenerative cells improves muscle function and lysosomal pathology (G. Schaaf)
09:10 – 09:30 O09 Development and validation of a GMP stem cell gene therapy manufacturing process for Mucopolysaccharidosis II (MPSII) (S. Ellison)
09:30 – 09:50 O10 A novel Adeno-associated viral gene therapy treatment protocol in sheep for use in MPSIIIC and other neurological disorders (B. Bigger)
09:50 – 10:10 O01 Fluoxetine treatment ameliorates the systemic pathology in a novel mouse model of Multiple Sulfatase Deficiency (MSD) (N.C. Sorrentino)
10:10 – 10:40 Coffee Break and Refreshments – Management School Atrium
10:40 – 11:00 O12 Brain targeting of GAA Promotes Full Correction of Murine Pompe Disease at a Clinically Relevant Dosage of Lentiviral Gene Therapy (F. Catalano)
11:00 – 11:20 O13 AAV-mediated homology-independent targeted integration leads to supraphysiological levels of lysosomal enzyme secretion from liver and correction of MPS VI in mice (F. Dell’Aquila)
11:20 – 11:40 O14 Ambroxol as a treatment for neurological manifestations in GD 2 (C. Aries)
11:40 – 12:00 O27 Endothelial dysfunction in Fabry disease in primary Endothelial Colony Forming Cells (S.Tokic)

12:00 – 13:30 Lunch Break – Management School Atrium

SESSION 2 (continued) Therapies – Management School Lecture Theatre 18
Chairs: Volkmar Gieselmann, Nicole Muschol

13:30 – 14:30 KEYNOTE CONFERENCE 4 (45 minutes talk + 15 minutes questions)
                         Transporting biotherapeutics across the blood-brain-barrier
A case example: Brain penetrant enzyme replacement therapy for MPSII
                        Dr. Annie Arguello
14:30 – 14:50 O16 Developing an iPSC-based neural gene therapy for Sanfilippo syndrome (O. Mandolfo)
14:50 – 15:10 O17 Drug repurposing approach in Mucopolysaccharidosis type IIIA: the case of Fluoxetine (A. Capuozzo)

15:10 – 15:40 Coffee Break and Refreshments – Management School Atrium

15:40 – 16:00 O18 Improving IDS.fusion peptides for BBB-crossing in Mucopolysaccharidosis type II (R. Searle)
16:00 – 16:20 O19 Fusion of RVG and gh625 peptide sequences to Iduronate-2-Sulfatase for the Treatment of Mucopolysaccharidosis Type II (S.Wood)
16:20 – 16:40 O20 An attenuated form of MPS plus due to deficiency of VPS33A and impaired HOPS complex (E. Pavlova)
16:40 – 17:00 O21 A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in Mucopolysaccharidoses (A. M. Wiesinger)
17:00 – 19:00 Attended Poster Session and Refreshments – Management School Atrium
20:00 GALA Dinner – LICA Hall – Private Dining Room

Day 4  Sunday 11th September – Lysosomal Pathology

07:00 – 08:30 Breakfast – Marketplace or Hotel

ALL sessions will take place in Management School Lecture Theatre 18
Chairs: Stuart Ellison, Francisca Coutinho

Lysosomal Pathology – (15 minutes talks + 5 minutes questions)
08:50 – 09:10 O22 Secondary deficiency of neuraminidase 1 and its contribution to the CNS pathophysiology in neurological mucopolysaccharidoses (A. Pshezhetsky)

09:10 – 09:30 O23 Investigating the role of inflammation in MPS IIIA neuropathology (O. Mandolfo)
09:30 – 09:50 O24Mice lacking TRPML1 present kidney disease (G. Grieco)

09:50 – 10:20 Coffee Break and Refreshments – Management School Atrium

10:20 – 10:40 O25 Using Schizosaccharomyces pombe to understand the pathogenesis of CLN3 disease (J. Clemente-Ramos)
10:40 – 11:00 O26 Haplotypic and MicroRNA Profiling in Niemann-Pick type C Portuguese Patients (M. Encarnação)
11:00 – 11:20 O15 Brain-targeted lentiviral haematopoietic stem cell gene therapy for severe Mucopolysaccharidosis Type I: peptide tag optimisation for more efficient delivery across the blood-brain-barrier. (T. Andreou)
11:20 – 11:30 (Scientific committee to discuss prizes)

11:30 – 11:45 Prizes

11:45 – 12:00 Closing Remarks
12:00 onwards Lunch Box and Departure – Management School Atrium
12:30 onwards Coach Transfer to Manchester Airport /Lancaster Railway Station.
The coach to Manchester Airport will depart at 12:30 from Meeting Point (ETA 14:00) The shuttle bus to Lancaster Railway Station will depart at 12:30 from Meeting Point