Skip to main content


2024 Program: 8th Update on Fabry Disease:

Biomarkers, Progression and Treatment Opportunities
June 2-June 4, 2024: Hamburg Germany 
Supporting Organization: Kidneys for Life (Manchester, UK) 
Secretariat: Kongressmanagement bei Aey Congresse GmbH.  Berlin, Germany

Meeting Venue: Saalhaus GmgH, Hamburg, Gerrmany


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 Hospital of Würzburg, Würzburg DE

Christoph Wanner, MD, University Hospital of Würzburg, Würzburg DE

David G. Warnock, MD, University of Alabama at Birmingham, USA

Michael West, MD, Dalhousie University, Nova Scotia, CN


Poster Selection Committee:

Fabian Braun, MD, University Medical Center Hamburg-Eppendorf, DE

Christoph Erbacher, PhD, University Hospital of Würzburg, Würzburg DE

Jessica Gambardella, PhD, Federico II University,  Naples, IT

Cecilia Delprete, PhD, University of Bologna, Bologna, IT

Sybille Köhler, PhD,  University Medical Center Hamburg-Eppendorf, DE

Christine Kurschat, MD,  University of Cologne, Cologne, DE  

Camilla Tøndel, MD, Haukeland University Hospital, Bergen, NO

Laura van Dussen, MD PhD, AMC, Amsterdam NL

Eric Wallace, MD, University of Alabama at Birmingham, Birmingham, USA


Supported by the German Research Foundation (project number: 543855251) awarded to Fabian Braun, MD, University Medical Center Hamburg-Eppendorf

SPONSORSHIPS: 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: Amicus Therapeutics; Chiesi Farmaceutici S.p.A


SPONSORING ORGANIZATIONS:  Takeda Therapeutics; uniQure Biopharma B.V.

OTHER SUPPORT: Biosidus S.A.U., Moderna






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. The program has been broadened to address all aspects of Fabry disease.


(PROGRAM Updated: May 31, 2024): 


16:00 – 18:00             Onsite Registration


08:00 – 12:00             Onsite Registration

Session 0. Workshop on Gene and Cellular Therapy for Fabry Disease (Chairs: Michael West MD (Dalhousie University), Rob Hopkin, MD (University of Cincinnati Children’s Hospital)

09:00 – 09:20             Autologous, Lentivirus-Modified, Rapamycin-Resistent T- cell “micropharmacies” for Lysosomal Storage Disorders; Jeffrey Medin, PhD (Medical College of Wisconsin, Milwaukee)

09:20 – 09:40            In vivo Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells; Yuichiro Miyaoka, PhD (Tokyo Metropolitan Institute of Medical Science)

09:40 –10:00              AMT-191 Gene Therapy for Fabry Disease; Arian Pano, MD (UniQure, Cambridge)

10:00 –10:10              Lentivirus-Mediated Gene Therapy in Fabry Disease; Persisting Increased Alpha-Galactosidase A Activity and Renal Status at 5 Years; Michael L West, MD (Dalhousie University, Halifax)

10:10 – 10:45             Moderated Group Discussion

11:30 – 12:45             LUNCH buffet style

12:45 – 13:00             Welcome and Outline of Program: Tobias Huber, MD and Florian Braun, MD  (UKE Hamburg)

13:00 – 13:45             Keynote: Auto-antibodies Targeting Nephrin in Podocytopathies; Tobias Huber, MD (UKE Hamburg) 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 – 15:15             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)

15:15 – 15:30             Combined ERT and Chaperone Therapy for Late-Onset Pompe Disease; Mark Roberts, MD (Salford Royal NHS Foundation Trust)

15:30 – 15:45             CARAT Trial: Venglustat versus ERT or Chaperone and LVH; James C. Moon, MD PhD (Bart’s Heart Center, London).

15:45 – 16:00             modRNA GLA Lowers GB3 in Fabry-Derived Cardiomyocytes; Sharon Ricardo, PhD (Monash University, Melbourne)

16:00 – 16:10             HM15421, a Novel Long-Acting alpha-Galactosidase A Analog for SQ Administration in Fabry Disease; Haemin Chon, MD PhD (Hanmi Pharmaceuticals, Seoul) 

16:10 – 16:20             A Novel Enzyme Replacement Therapy for Resolving Multi-Systemic Pathologies in Fabry Disease: Rizwana Islam, PhD (Crosswalk Therapeutics, Cambridge) 

16:20 – 16:30             Transplantation of Genome-Edited Induced Pluripotent Stem Cells to Deliver Modified NAGA In Vivo: Ittetsu Nakajima, MD (Tokyo Metropolitan Institute of Medical Science)

16:30 – 17:00             Moderated Group Discussion

17:00 – 19:00                       OPENING RECEPTION AND POSTER SESSION


Session 2: Substrate Reduction Therapy Workshop (Chairs: Christoph Wanner, MD (University Hospital of Würzburg) and James Shayman, MD PhD (University of Michigan)

08:00 – 08:10             Update on Lucerastat; Peter Nordbeck, MD (University Hospital of Würzburg)

08:10 – 08:20             Update on Venglustat; Dominique P. Germain, MD PhD (University of Versailles) ) 

08:20 – 08:30             Update on α-1,4-Galactosyltransferase Inhibitors; Nicky de Koster (University of Leiden)

08:30 – 08:40             Update on AL01211; Jerry Shen, PhD (ACE-Link Therapeutics).

08:40 – 09:00             Moderated Group Discussion

 Session 3: Cellular Damage, Lyso-GB3 and Fabry Disease (Chairs: Mirjam Langeveld, MD (AMC) Christiane Auray-Blais, PhD (Université de Sherbrooke) and Albina NowackMD (University of Zurich)

09:00 – 09:15             Risk Stratification of Fabry Disease Using Plasma Globotriaosylsphingosine Levels; Mirjam Langeveld, MD (AMC)

09:15 – 09:25             Lyso-GB3 as a Cellular Toxin in Fabry Disease: Wendy Heywood, PhD (Great Ormond Street Biomedical Research Centre)

09:25 – 09:35             Early Detection of Irreversible Cellular Damage in Cardiac Biopsies of Fabry Disease Before the Formation of Gb3 Inclusion Bodies: Dau-Ming Niu, MD (Taipei Veterans General Hospital)

09:35 – 09:45             Early Impairment of Mitochondrial Quality Control in Fabry Heart: Antonietta Buonaiuto, PhD (Federico II University, Naples)

09:45 – 10:00             Moderated Group Discussion

10:00 –10:30              COFFEE BREAK

Session 4: Protein Folding and Processing in Rare Renal Diseases (Chairs: Stanislav Kmoch, MD (Charles University, Prague) Raphael Schiffmann, MD (Texas Christian University, Fort Worth) David Warnock, MD (University of Alabama at Birmingham)

10:30 – 10:50             Small Molecule Targets TMED and Promotes Lysosomal Degradation to Reverse Proteinopathy; Moran Dvela-Levitt (Bar-Ilan University, Ramat_Gan Israel)

10:50 – 11:10             L394P Accumulates in the Endoplasmic Reticulum and Unfolded Protein Response; Martina Živná, PhD (Charles University, Prague)

11:10 – 11:20             Phenotypic Variability with the A143T Mutation in Fabry Disease; Carlos Prada, MD (Laurie Children’s Hospital)

11:20 – 11:30             The Fabry Nephropathy in N215S Genotype: Clinical and Histopathologic Evaluation in a Large Patient Cohort; Renzo Mignani, MD Azienda Ospedaliero, Bologna)

11:30 – 12:00             Moderated 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: Derralynn 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             A Rapid and More Informative Test for Autoantibodies to Enzyme Replacement Therapies in Fabry Disease: Tomas Baldwin, PhD (University College of London)

14:10 – 14:25             Epitope Mapping of Anti-alpha Galactosidase A Antibodies from Fabry Patients Treated with Enzyme Replacement Therapy: Jeffrey A. Medin, PhD (Medical College of Wisconsin, Milwaukee)

14:25– 14:45              Moderated Group Discussion

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)

14:45 – 15:00             Loop Recorders and Fabry Disease – RaILRoAD Study: Dr Rick Steeds (University of Birmingham, UK

15:00 – 15:15             Arrythmia and Personalized Risk Stratification: John Jefferies, MD (University of Tennessee)

15:15 – 15:30             Heart Failure and Fabry Disease: Josef Marek, MD (Charles University, Prague)

15:30 – 15:40             Sensitivity and Specificity of a Serum Test for Hypertrophic Cardiomyopathy in Fabry Disease: Kevin Mills, PhD (UCL Institute of Child Health, London)

15:40 –16:00              Moderated Group Discussion

16:00 – 16:30             COFFEE BREAK

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 Hospital of Würzburg)

16:30 – 16:45             Pain and Sensory Symptoms in Mouse and Rat Models of Fabry Disease: Cheryl L Stucky, PhD (Medical College of Wisconsin)

16:45 – 17:00             Patient-derived Sensory Neurons of Fabry Disease patients versus controls: Nurcan Üçeyler, MD (University Hospital of Würzburg)

17:00 – 17:10             A Human Fabry Sensory Neuronal Model Highlights Axon Guidance Deficits: Christoph Erbacher, PhD (University Hospital of Würzburg)

17:10 – 17:25             Central Nervous System Involvement in Fabry Disease: Etiology and Mechanisms: Francesco Formaggio, PhD (University of Bologna)

17:25 – 17:40             Disruption of the Intestine-Brain Axis in the Mouse Knock-Out Model of Fabry Disease: Cecilia Delprete, PhD (University of Bologna)

17:40 – 18:00             Moderated Group Discussion

 18:30 – 20:30            RECEPTION AND POSTER VIEWING


Session 8: Imaging, Pathology and Fabry Disease (Chairs: Behzad Najafian, MD (University of Washington) and Fabian Braun, MD (University Medical Center Hamburg-Eppendorf (UKE)

08:00 – 08:15             Automated Assessment of Podocyte Injury Using Deep Learning; David Smerkous, PhD (University of Washington)

08:15 – 08:30             Novel Imaging Techniques and AI-Assisted Analysis; Victor Puelles, PhD (UKE Hamburg)

08:30 – 08:45             Deep Multiomic Analyses Bridging Molecular Signatures from in vitro Systems to Patient Biopsies; Markus Rinschen, PhD (UKE Hamburg and Arhus University)

08:45 – 08:5               Systems Analyses of Fabry’s Renal Transcriptome and its Response to Enzyme Replacement Therapy Identifies ERT-Resistant Module; Øystein Eikrem, MD PhD (University of Bergen)

08:55 – 9:10               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)

09:10 – 09:25             Pathology-Based Endpoints in Fabry Disease Clinical Trials; Camilla Tøndel, MD (Haukeland University Hospital, Bergen)

09:25 – 09:45             Moderated Group Discussion

09:45 – 10:15             COFFEE BREAK

Session 9: Basic Biology of Fabry Disease (Chairs: Tobias Huber, MD (UKE Hamburg), Hans Aerts, PhD (University of Leiden)

10:15 – 10:35             Synuclein-alpha Accumulation Mediates Podocyte Injury in Fabry Nephropathy Fabian Braun, MD (UKE Hamburg)

10:35 – 10:55             Novel Models for the Study of Fabry Disease: Sybille Köhler, PhD (UKE Hamburg)

10:55 – 11:05             Advancing Cardiac Disease Modeling in Fabry Cardiomyopathy by Utilizing Patient-Derived Induced Pluripotent Stem Cells, Heart Organoids and Engineered Heart Tissue: Anna Reinelt, (UKE Hamburg)

11:05 – 11:20             Gene Expression Analysis in GLA-Mutant Zebrafish Reveals Enhanced Ca+2 Signaling Similar to Fabry Disease: Jessica Furriol, PhD (University of Bergen)

11:20 – 11:50             Moderated Group Discussion

11:50 – 13:30             LUNCH buffet style (poster viewing and networking).

Session 10: Kidney Issues and Fabry Disease (Chairs: Christoph Wanner, MD (University Hospital of Würzburg)) Bojan Vujkovac, MD (General Hospital, Slovenj Gradec) and Sima Canaan-Kühl, MD (Charité – Universitätsmedizin, Berlin)

13:30 – 13:50             Change in Albuminuria and GFR Slope as Joint Surrogate End Points for Kidney Failure in Clinical Trials: Hiddo Lambers-Heerspink, PhD (University Medical Center Groningen)

13:50 – 14:00             Quantification of Globotriaosylceramide in Kidney Peritubular Capillary Endothelial Cells in Kidney Biopsies from Fabry Patients Using Machine Learning: Adam Amedson, BS (University Washington, Seattle)

14:00 – 14:15             Clinical Trial Design: Filtration Markers, Proteinuria, Adjunctive Therapies, and Hawthorne Effect: David G. Warnock, MD (University of Alabama at Birmingham)

14:15 – 14:30             Moderated Group Discussion

Session 11: Inflammation and Fabry Disease (Chairs: Paula Rozenfeld, PhD (IIFP, Buenos Aires) and Ozlem Goker-Alpan, MD (LSDTC, Fairfax, VA)

14:30 – 14:45             The Immune – Proteasome as a Regulator of Cellular Homeostasis; Catherine Meyer-Schwesinger, PhD (UKE Hamburg)

14:45 – 14:55             Caspase inhibitors and Inflammasome Activation and Fibrosis in Fabry disease: Neil Kasaci, BS (LSDTC, Fairfax, VA)

14:55 – 15:05             Investigating Cell Pathology in Fabry Disease; Ferroptosis Dysregulation in iPSC-derived Podocytes: Sharon Ricardo, PhD (Monash University, Melbourne)

15:05 – 15:30             Moderated Group Discussion

 15:30 – 15:45            CLOSING REMARKS