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Sunday June 7, 2026

ERT Workshop: Rob Hopkin MD (Cincinnati, US) Eve Miller-Hodges, MD PhD (Edinburgh, UK)

  • 9:00-9:15 Alpha-Galactosidase Beta Biosimilar. Alba Tabakian, MD (Biosidus, Buenos Aires, AR)
  • 9:15-9:30 Bio-Distribution of Orally Administered ERT. José Victor Álvarez, PhD (Instituto de Investigación Sanitariode Santiago de Campostela, ES)
  • 9:30-9:45 Engineering Low-Immunogenic ERT for Fabry Disease. Matthias Dierick, PhD (University of Edinburgh, UK)
  • 9:45-10:00 Engineered ERT for SQ-Administration in Fabry Disease. (Crosswalk Therapeutics, Cambridge, US)
  • 10:00-10:15 Nanoliposome-Based ERT for Fabry Disease. Elisabet González Mira, PhD (ICMAB-CSIC, Barcelona ES)
  • 10:15-10:30 Cellular Uptake and Stability of Pegunigalsidase alfa. Jessica Gambardella, PhD (Federico II University, Naples, IT)
  • 10:30-10:40 Selected Abstract
  • 10:40-11:30 Moderated Group Discussion

BUFFET STYLE LUNCH – 11:30-12:30

Opening Session: Christoph Wanner, MD (Würzburg, DE); Fabian Braun, MD (Hamburg, DE); David Warnock, MD (Birmingham, US)

  • 12:45-13:00 Welcome to Bologna Gaetano La Manna MD PhD (Sant’Orsola-Malpighi University, Bologna, IT) Introduced by Christoph Wanner MD (University of Würzburg, DE)
  • 13:00-13:45 KEYNOTE: Therapeutic Strategy for RNA Splicing Diseases Using Small Molecules Masatoshi Hagiwara, PhD (Kyoto University, Kyoto, JA) Introduced by Fabian Braun MD (UKE Hamburg, DE)
  • 13:45-14:30 KEYNOTE: Misfolding of α-Galactosidase A in a Drosophila Model of Fabry Disease: Effects of Chaperone Therapies. Mia Horowitz, PhD (Tel Aviv University, Ramat Aviv, IS) Introduced by David G Warnock, MD (UAB, Birmingham, US)

COFFEE BREAK – 14:30-15:00

SESSION 1: New Treatment Approach for Fabry Disease: Yoshikatsu Eto, MD PhD (Tokyo, JP), Ozlem Goker-Alpan, MD (Virginia, US)

  • 15:00-15:20 Non-inhibitory Chaperones of alpha-Galactosidase for Fabry Disease. Jessica Casaletto, PhD (Relay Therapeutics, Cambridge, US)
  • 15:20-15:40 Substrate Reduction Therapy: Progress Report. Dominique Germain, MD PhD (University of Versailles, FR)
  • 15:40-16:00 RECTAS-2.0, Oral Medication for the Splice-Variant Mutation (IVS4+919G>A). Tomari Awaya, MD PhD (Kyoto University, JA)
  • 16:00-16:15 AMT-191: Secretable Alpha-Galactosidase A with Prolonged Plasma Half-Life. Arian Pano, PhD (UniQure, Amsterdam, NL)
  • 16:15-16:30 Phase 1/2 STAAR Study with Long-Term Follow-Up of Isaralgagene Civaparvovec (ST-920) John A. Bernat, MD PhD (University of Iowa, US)
  • 16:30-16:40 Selected Abstract
  • 16:40-17:00 Moderated Group Discussion
  • 17:00-19:00 OPENING RECEPTION AND STRUCTURED POSTER SESSION

MONDAY JUNE 8, 2026

SESSION 2: DIAGNOSIS, TREATMENT AND CLINICAL IMPACT OF LATE-ONSET GLA VARIANTS Mirjam Langeveld, MD PhD (Amsterdam, NL); Ana Jovanovic, MD (Manchester, UK)

  • 8:00-8:15 Diagnostic and Clinical Challenges Posed by Increased Detection of Non-Classical GLA Variants. Laura van Dussen, MD PhD (AMC, Amsterdam, NL)
  • 8:15-8:35 When and How to Assess and Treat Late-Onset FD Variants Kathleen Nicholls, MBBS, PhD (University of Melbourne, AU)
  • 8:35-8:50 A143T and N215S: GLA Variants with Variable Penetrance and Phenotypes. Mark Gilchrist, MD (University of Exeter, UK)
  • 8:50-9:10 Influence of Cardiovascular Risk factors and Co-morbidities on Fabry Patients with Late-Onset Variants. Raphael Schiffmann, MD (Texas Christian University, Fort. Worth, US)
  • 9:10-9:20 Selected Abstract
  • 9:20-9:40 Moderated Group Discussion

9:40-10:10 COFFEE BREAK

SESSION 3: GLA SCREENING FOR NEW BORNS, AND HIGH-RISK COHORTS Derralynn Hughes, MD (London, UK) Steven Waldeck MD (Manchester, UK)

  • 10:10-10:25 Current Status of Newborn Screening for Farby Disease. Alberto Burlina, MD (University Hospital, Padua, IT)
  • 10:25-10:40 Whole Genome Sequencing: Real-Time Analysis from Birth to Lifelong Insights, Dau-Ming Niu, MD PhD (Veterans General Hospital, Taiwan, TW)
  • 10:40-10:55 Gene Panels Based on NGS: Screening of High-Risk Cohorts for Fabry Disease, Ali Gharavi, MD (Columbia University, New York, US)
  • 10:55-11:05 Selected Abstract 11:05-11:30 Moderated Group Discussion

11:30-13.00 LUNCH Buffet Style – POSTER VIEWING and Networking

SESSION 4: OPPORTUNITIES AND CHALLENGES IN FABRY HEART DISEASE Rick Steeds, MD PhD (Birmingham, UK), Antonia Camporeale MD PhD (Milan, IT)

  • 13:00-13:15 New Insights on Cardiac Progression: From Imaging to Histology. Elena Biagini, MD (University of Bologna, IT)
  • 13:15-13:30 Atrial and Ventricular Dysfunction Before LVH in Fabry Disease. Maria C. Meucci, MD (Fondazione Policlinico Gemelli, Rome, IT)
  • 13:30-13:45 GB3 Accumulation in Fabry Cardiomyopathy Occurs Before GB3 Deposits Develop. Dau-Ming Niu, MD PhD (Veterans General Hospital, Taiwan, TW)
  • 13:45-14:00 Tissue Mapping, Strain and Structure Before and Beyond LVH James C. Moon, MD PhD (Barts Heart Center, London, UK)
  • 14:00-14:15 CPET as the Primary Endpoint for HCM Trials. Ashwin Roy, MD (University of Birmingham, UK)
  • 14:15-14:25 Selected Abstract
  • 14:25-14:45 Moderated Group Discussion

14:45-15:05 COFFEE BREAK

SESSION 5: FABRY NEUROPATHOPHYSIOLOGY Francesco Formaggio. PhD (Bologna, IT) Rocco Liguori, MD (Bologna, IT)

  • 15:05-15:20 GB3 Deposits in Tissue and White Matter Lesions in Fabry Disease Nurcan Üçeyler, MD (University of Würzburg, DE)
  • 15:20-15:35 Localization of GB3 in the Hippocampus and Frontal Cortex in Fabry Disease. Roberto Rimondini-Giorgini, PhD (University of Bologna, IT)
  • 15:35-15:50 Neuropathic versus Neuroplastic Pain in Fabry Disease Juan Politei, MD (Buenos Aires, ARG)
  • 15:50-16:05 The Farthest Endings: Nociceptor Impact on Fabry Disease-Associated Pain. Christoph Erbacher, PhD (University of Würzburg, DE)
  • 16:05-16:15 Selected Abstract 16:15-16:35 Moderated Group Discussion

16:35-16:45 COFFEE BREAK

SESSION 6: RENAL PATHOLOGY AND FABRY DISEASE Camilla Tøndel, MD (Bergen, NO) Martina Živná, PhD (Prague, CZ)

  • 16:45-17:00 Extra-Lysosomal GB3 Accumulation Occurs and Lysosomal GB3 Deposits in Fabry Nephropathy. Behzad Najafian, MD (University of Washington, Seattle, US)
  • 17:00-17:15 Foot Process Effacement: Early Marker of Podocyte Injury Tobias Huber, MD (UKE Hamburg, DE)
  • 17:15-17:30 Is Peritubular Capillary Alteration a Key Driver of Renal Fibrosis in Fabry Disease? A Histopathological Study Gisella Vischini, MD PhD (University of Bologna, IT)
  • 17:30-17:45 Chronicity Index: Glomerular and Tubulo-Interstitial Fibrosis. Agnes B. Fogo, MD (Vanderbilt University Medical Center, Nashville, USA)
  • 17:45-17:55 Selected Abstract
  • 17:55-18:15 Moderated Group Discussion
  • 18:15-19:15 RECEPTION AND POSTER VIEWING

TUESDAY JUNE 9, 2026

SESSION 7; CLINICAL MANAGEMENT: BEYOND ERT AND CHAPERONES Renzo Mignani, MD (Bologna, IT) Christoph Wanner, MD (Würzburg, DE)

  • 8:00-8:20 Reno-protective Effects of SGLT2 Inhibitors in Fabry Disease. Hideki Fujii, MD (Kobe University. JP)
  • 8:20-8:40 GLP1 Analogues, and Mineralocorticoid Antagonists as Adjunctive Therapies in Fabry Disease. Irene Capelli, MD (University of Bologna, IT)
  • 8:40-8:55 Imaging of the Retinal Vasculature: Responses to Therapeutic Agents in Fabry Disease. Mitra Tavakoli, PhD (University of Exeter, UK)
  • 8:55-9:10 The Potential Impact of Dorsal Root Ganglia in FD-Associated Pain: Magnus Schindehütte MD (University of Würzburg, DE)
  • 9:10-9:20 Selected Abstract
  • 9:20-9:45 Moderated Group Discussion

9:45-10:00 COFFEE BREAK

SESSION 8: DISEASE MODELS AND MOLECULAR UNDERSTANDING OF FABRY DISEASE Katja Gehmlich, PhD (Birmingham, UK); Sharon Ricardo, PhD; (Melbourne, AU)

  • 10:00-10:15 Cardiac Disease Modelling Using iPSCs Anna Reinelt, PhD (Hamburg, GER)
  • 10:15-10:30 Hypomorphic Variants in Fabry Disease Stanislav Kmoch, PhD (Charles University, Prague, CZ)
  • 10:30-10:45 Arteriosclerosis Despite ERT: Pathophysiology of Vasculopathy in Fabry Disease. Øystein Eikrem, MD PhD (University of Bergen, NO)
  • 10:45-11:00 Multi-Tissue Analysis of GB3 Storage in Fabry Disease Vincenzo Donadio, MD PhD (University of Bologna, IT)
  • 11:00-11:15 Linking the PNS and CNS in a Fabry Mouse Model Kai Kummer, PhD (Innsbruck Medical University, AU)
  • 11:15-11:30 Enzyme Uptake Independent of Mannose-6-P04 Receptors Hassan Naim, PhD (University of Hannover, DE)
  • 11:30-11:40 Selected Abstract
  • 11:40-12:00 Moderated Group Discussion

12:00-13:00 LUNCH Buffet Style

SESSION 9: IMMUNOGENICITY AND IMMUNE-MEDIATED DISEASE Pierre Ronco, MD PhD (Paris, FR); Tobias Huber, MD (Hamburg, DE)

  • 13:00-13:20 Immune-Epithelial Pathology in Fabry Disease Fabian Braun, MD (UKE Hamburg, DE)
  • 13:20-13:40 Immunogenicity of ERTs Malte Lenders, PhD (University of Münster, DE)
  • 13:40-13:55 Mass Spectrometry Identification of ADA-Complexes in Fabry Patients Receiving ERT. Wendy Heywood, PhD (University College London, UK)
  • 13:55-14:15 Membranoproliferative Glomerulonephritis in Fabry Patients Treated with ERT. David G. Warnock, MD (UAB, Birmingham, US)
  • 14:15-14:25 Selected Abstract
  • 14:25-14:45 Moderated Group Discussion
  • 14:45-15:00 CLOSING REMARKS