2024 Program: 8th Update on Fabry Disease:
Meeting Venue: Saalhaus GmgH, Hamburg, Gerrmany
(https://saalhaus.de/webfile/show/880/190325-Factsheet-Website.pptx_EN.pdf)
Program Steering Committee:
Fabian Braun, MD, University Medical Center Hamburg-Eppendorf, DE
Tobias Huber MD, University Medical Center Hamburg-Eppendorf DE
Derralyn Hughes, MD, Royal Free Hospital, London UK
Mirjam Langeveld, MD, AMC, Amsterdam NL
Albina Nowak, MD, University of Zurich, Zurich CH
Juan Politei, MD PhD, FESEN, Buenos Aires, AR
Andrew Talbot, MD, Royal Melbourne Hospital, Melbourne AU
Stephen Waldek, MD, Sunderland University UK
Nurcan Üçeyler, MD, University of Würzburg, Würzburg DE
Christoph Wanner, MD, University of Würzburg, Würzburg DE
David G. Warnock, MD, University of Alabama at Birmingham, USA
Michael West, MD, Dalhousie University, Nova Scotia, CN
SPONSORSHIP: The following entities provided financial sponsorship toward the logistical costs of the 8th International Update on Fabry Disease but have had no input into the agenda, content, or arrangements.
MAJOR SPONSORS:
SPONSORS:
SPONSORING ORGANIZATIONS: Walking Fish Therapeutics;
The 1st Fabry Nephropathy Satellite "Focus on Fabry Nephropathy: Biomarkers, Progression and Disease Severity", an Official Satellite of the World Congress of Nephrology, was held in Bergamo Italy in May 2009. The second Fabry Nephropathy Satellite "Focus on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities" was organized as an Official Satellite of the World Congress of Nephrology, and was held in Vancouver, Canada on April 12--14, 2011. The 3rd Update on Fabry Nephropathy was held in conjunction with the World Congress of Nephrology, in Hong Kong on June 4-5, 2013. The 4th Fabry Nephropathy Update was a Satellite of the ERA_EDTA 2015 Meeting, and was held in Manchester, UK on June 1-2, 2015. The 5th Fabry Nephropathy Update was an official Satellite of the 2017 ISN WCN Meeting, and was held in Mexico City, Mexico on April 25-27, 2017. The 6th Update on Fabry Disease was held in Prague, CZ, May 26-28, 2019. The 7th Update on Fabry Disease was held May 29-May 31, 2022 in Würzburg Germany
The 3-day conference features, state of the art plenary presentations, case discussions and poster presentations. The intended audience are content experts and "treaters" of Fabry Disease. The focus will be on emerging treatment approaches, baseline characteristics that determine the patient-specific responses to the treatment of Fabry disease, and antibody interactions with infused enzyme replacement therapy.
PROGRAM (06/23/2023): SUBJECT TO UPDATES
Saturday June 1, 2024
13:00 – 17:00 Onsite Registration
Sunday June 2, 2024
08:00 – 12:00 Onsite Registration
Session 0. Workshop on Gene and Cellular Therapy for Fabry Disease (Chairs: Michael West MD (Dalhousie University), and Stephen Waldek (Sunderland University)
09:00 – 09:20 Autologous, Lentivirus-Modified, Rapamycin-Resistent T- cell “micropharmacies” for Lysosomal Storage Disorders; Jeffrey Medin, PhD (Medical College of Wisconsin, Milwaukee, WI)
09:20 – 09:40 B Cell Protein Factory with Sustained Therapeutic Levels of alpha-Galactosidase A; Lewis T. Williams, MD PhD (Walking Fish Therapeutics)
09:40 –10:00 ST-920 (AAV2/6) Gene Therapy in Subjects With Fabry Disease; Rob Hopkin, MD (University of Cincinnati Children’s Hospital)
10:00 – 10:20 In Vivo Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells; Yuichiro Miyaoka, MD (Tokyo Metropolitan Institute of Medical Science)
10:20 – 10:40 Group Discussion
11:30 – 12:45 Buffet Lunch
12:45 – 13:00 Welcome and Outline of Program: Tobias Huber, MD and Florian Braun, MD (UKE Hamburg)
13:00 – 13:45 Keynote: mRNA Medicine for Rare Diseases; Paolo Martini, PhD (CSO, International Therapeutic Research Centers, Moderna Therapeutics) Introduced by David G Warnock, MD (University of Alabama at Birmingham)
13:45 – 14:15 Keynote: Inherited “Proteinopathies: Fabry disease as a model for protein-folding diseases”; Scott Garman, PhD (University Of Massachusetts, Amhurst) Introduced by Tobias Huber, MD (UKE Hamburg)
14:15 – 15:00 COFFEE BREAK
Session 1. New Treatment Approaches for Fabry Disease (Chairs: (Chairs: Yoshikatsu Eto, MD PhD (Jikei University) Joao-Paulo Olivera, MD (University of Porto) and Derralyn Hughes, MD (Royal Free Hospital, London)
15:00 – 15:20 A Study of Read-Through Therapy (ELX-02) in Patients With X-Linked Inherited Renal Disease, Ari Hariri, MD (Eloxx Pharmaceuticals)
15:20 – 15:40 Combined ERT and Chaperone Therapy for Late-Onset Pompe Disease; Mark Roberts, MD (Salford Royal NHS Foundation Trust)
15:40 – 16:00 CARAT Trial: Venglustat versus ERT or Chaperone and LVH; James C. Moon, MD PhD (Bart’s Heart Center, London).
16:00 – 16:20 TBA
16:20 – 16:40 Group Discussion
17:00 – 19:00 OPENING RECEPTION AND POSTER SESSION
Monday 3rd June
Session 2: Substrate Reduction Therapy Workshop (Chairs: Christoph Wanner, MD (University of Würzburg) Andrew Talbot, MD (Royal Melbourne Hospital) and James Shayman, MD PhD (University of Michigan)
08:00 – 08:10 Update on Lucerastat; Peter Nordbeck, MD (University of Würzburg)
08:10 – 08:20 Update on Venglustat; Dominic Germain, MD (Hôpital Raymond Poincaré)
08:20 – 08:30 Update on AL01211; Pedro Huertas, MD PhD (ACE-Link Therapeutics, Newark, CA).
08:30 – 08:40 Update α-1,4-Galactosyltransferase Inhibitors; Marta Artola Perez de Azanza, PhD (University of Leiden)
08:40 – 09:00 Group Discussion
Session 3: Lyso-GB3 and Fabry Disease (Chairs: Mirjam Langeveld, MD (AMC) Christiane Auray-Blais, PhD (Université de Sherbrooke) and Albina Nowack, MD (University of Zurich)
09:00 –09:10 Lyso-GB3 as a Tool for Diagnosing and Monitoring Therapy in Fabry Disease; Petra Oliva PhD (ARCHIMEDlife, Vienna)
09:10 – 09:25 Risk Stratification of Fabry Disease Using Plasma Globotriaosylsphingosine Levels; Mirjam Langeveld, MD (AMC)
09:25 – 9:45 Lyso-GB3 as a Cellular Toxin in Fabry Disease: Wendy Heywood, PhD (Great Ormond Street Biomedical Research Centre)
9:45 –10:05 Group Discussion
10:05 –10:30 COFFEE BREAK
Session 4: Protein Folding and Processing in Rare Renal Diseases (Chairs: Anthony Bleyer, MD (Wake Forest University, Winston-Salem) Stanislav Kmoch, MD (Charles University, Prague) Raphael Schiffmann, MD (Texas Christian University, Fort Worth))
10:30 – 10:50 Establishing Personalized Medicine in Fabry Disease Through Functional Analysis of Disease Mutants: Efecan Aral (U Mass Amherst)
10:50 – 11:05 Small Molecule Targets TMED and Promotes Lysosomal Degradation to Reverse Proteinopathy; Moran Dvela-Levitt (Bar-Ilan University, Ramat_Gan Israel)
11:05 – 11:20 L394P Accumulates in the Endoplasmic Reticulum and Unfolded Protein Response; Martina Živiná, PhD (Charles University, Prague)
11:20 – 11:30 In-Vitro versus In-Vivo Amenability with the L294S Mutation in Fabry Disease; Malte Lenders, PhD (University of Münster)
11:30 – 11:40 Phenotypic Variability with the A143T Mutation in Fabry Disease; Joel Charrow, MD (Feinburg School of Medicine)
11:40 – 12:00 Group Discussion
12:00 – 13:30 LUNCH buffet style ( poster viewing and networking).
Session 5: Prevalence, Incidence and Clinical Significance of Anti-Drug Antibodies in Fabry Disease (Chairs: Derralyn Hughes MD PhD (Royal Free Hospital) and John A. Bernat, MD (University of Iowa))
13:30 – 13:50 Immune Response to Enzyme Replacement Therapy and Therapeutic Impact on Fabry Patients; Mirjam Langeveld, MD (AMC)
13:50 – 14:10 Impact of Neutralizing Antibodies on ERT Uptake, Distribution and Efficacy; Malte Lenders, PhD (University of Münster)
14:10 – 14:25 ERT-Associated Immune-Complex Glomerulonephritis in Fabry Disease; Eric Wallace, MD (University of Alabama at Birmingham)
14:25 – 14:40 IgE and Severe Infusion Reactions; Andrew Talbot, MD (Royal Melbourne Hospital)
14:40 – 15:00 Moderated Group Discussion
15:00 – 15:30 COFFEE BREAK
Session 6: Cardiac Issues and Fabry Disease (Chairs: James C. Moon, MD PhD (Bart’s Heart Center, London and John Jefferies, MD (University of Tennessee)
13:30 – 13:50 Loop Recorders and Fabry Disease – RaILRoAD Study: Dr Rick Steeds (University of Birmingham, UK
13:50 – 14:10 Arrythmia and Personalized Risk Stratification: John Jefferies, MD (University of Tennessee)
14:10 – 14:30 Heart Failure and Fabry Disease: Josef Marek, MD (Charles University, Prague)
14:30 –15:00 Moderated Group Discussion
Session 7: Neurologic Issues and Fabry Disease (Chairs: Juan Politei, MD (FESEN, Bueno Aires), Alessandro Burlina, MD (University of Padua) and Nurcan Üçeyler, MD (University of Würzburg)
15:30 – 15:50 Pain and Sensory Symptoms in Mouse and Rat Models of Fabry Disease: Cheryl L Stucky, PhD (Medical College of Wisconsin)
15:50 – 16:10 Patient-derived Sensory Neurons of Fabry Disease patients versus controls: Nurcan Üçeyler, MD (University of Würzburg)
16:10 – 16:25 Central Nervous System Involvement in Fabry Disease: Etiology and Mechanisms: Francesco Formaggio, PhD (University of Bologna)
16:25 – 16:40 Disruption of the Intestine-Brain Axis in the Mouse Knock-Out Model of Fabry Disease: Cecilia Delprete, PhD (University Bologna)
16:40 – 17:00 Moderated Group Discussion
Session 8: Kidney Issues and Fabry Disease (Chairs: Christoph Wanner, MD (University of Würzburg)) Bojan Vujkovac, MD (General Hospital, Slovenj Gradec) and Sima Canaan-Kühl, MD (Charité – Universitätsmedizin, Berlin)
17:00 – 17:20 Change in Albuminuria and GFR Slope as Joint Surrogate End Points for Kidney Failure in Clinical Trials: Hiddo Lambers-Heerspink, PhD PharmD (University Medical Center Groningen)
17:20 – 17:35 Challenges for Clinical Trial Design: Filtration Markers, Hawthorne Effect; David G. Warnock, MD (University of Alabama at Birmingham)
17:35 – 17:45 Commentary on Selection of Primary Endpoint for Rare Renal Disease Trials; (TBA)
17:40 –18:00 Moderated Group Discussion
18:30 – 20:30 RECEPTION AND POSTER VIEWING
Tuesday June 4th
Session 9: Imaging, Pathology and Fabry Disease (Chairs: Behzad Najafian, MD (University of Washington) and Fabian Braun, MD (University Medical Center Hamburg-Eppendorf (UKE) 3rd Chair?)
08:00 – 08:20 Automated Assessment of Podocyte Injury Using Deep Learning; David Smerkous, PhD (University of Washington)
08:20 – 08:40 Novel Imaging Techniques and AI-Assisted Analysis; Victor Puelles, PhD (UKE Hamburg)
08:40 – 09:00 Deep multiomic analyses bridging molecular signatures from in vitro systems to patient biopsies; Markus Rinschen, PhD (UKE Hamburg and Arhus University)
09:00 – 09:30 Pathology-Based Endpoints in Fabry Disease Clinical Trials; Camilla Tøndel, MD (Haukeland University Hospital, Bergen)
09:30 – 09:50 Kidney Pathology in Late-Onset and Variants of Unknown Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance; Irene Capelli, MD (University of Bologna)
09:50 – 10:15 Moderated Group Discussion
10:15 – 11:00 COFFEE BREAK
Session 10. Basic Biology of Fabry Disease (Chairs: Tobias Huber, MD (UKE Hamburg), TBA
11:00 – 11:30 Synuclein-alpha Accumulation Mediates Podocyte Injury in Fabry Nephropathy Fabian Braun, MD (UKE Hamburg)
11:30 – 12:00 Novel models for the study of Fabry Disease (Sybille Köhler, PhD (UKE Hamburg)
12:00 – 12:30 Gene Expression Analysis in GLA-Mutant Zebrafish Reveals Enhanced Ca+2 Signaling Similar to Fabry Disease: Jessica Furriol, PhD (University of Bergen)
12:30 – 13:00 Moderated Group Discussion
13:00 – 14:30 LUNCH buffet style (networking and posters viewing)
Session 11: Inflammation and Fabry Disease (Chairs: Alberto Ortiz, MD (Fundación Jiménez Díaz, Madrid) Paula Rozenfeld, PhD (IIFP, Buenos Aires) and Ozlem Goker-Alpan, MD (LSDTC, Fairfax, VA
14:30 14:45 TBA
14:45 15:00 The Immune – Proteasome as a Regulator of Cellular Homeostasis; Catherine Meyer-Schwesinger, PhD (UKE Hamburg)
15:00 15:10 Caspase inhibitors and Inflammasome Activation and Fibrosis in Fabry disease: Neil Kasauci, MD (LSDTC, Fairfax, VA)
15:10 15:30 Moderated Group Discussion
15:30 – 15:45 CLOSING REMARKS