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2019 Program: 6th Update on Fabry Disease:

Biomarkers, Progression and Treatment Opportunities

May 26-28, 2019: Prague, Czech Republic

Supporting Organization: Kidneys for Life (Manchester, UK)

Secretariat: GALÉN - SYMPOSION s.r.o.

Via Vinohradská 343/6, 120 00 Praha 2, CZ

Břežanská 10, 10000 Praha 10, CZ

VAT number CZ2642092

Hosted by the Charles University and its First Faculty of Medicine

Venue: Intercontinental Hotel (www.icprague.com)

Program Steering Committee:

Derralyn Hughes, Royal Free Hospital, London UK

Aleš Linhart, General University Hospital, Prague CZ

Alberto Ortiz, Fundacion Jimenez Diaz, Madrid, Spain

Raphael Schiffmann, Baylor Scott & White Research Institute, Dallas TX USA

Andrew Talbot, Royal Melbourne Hospital, Melbourne AU

Vladimir Tesař, Charles University, Prague CZ

Stephen Waldek, Sunderland University UK

Christoph Wanner, University of Würzburg, Würzburg Germany

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

Michael West, Dalhousie University, Nova Scotia, Canada

This educational activity is supported by unrestricted medical education grants from:


Major Sponsors:

Amicus Therapeutics has provided an unrestricted educational grant for the 6th Update on Fabry Disease, but did not contribute financially to the hospitality and venue expenses for this meeting .

The 6th Update on Fabry Disease is supported by an unrestricted educational grant from Takeda.



Protalix Biotherapeutics, CHIESI Farmaceutici S.p.A,; Idorsia Pharmaceuticals Ltd;

4D Molecular Therapeutics, AvroBio Inc., Moderna, Inc.

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 will be held in Prague, CZ, May 26-28, 2019, and the venue has been selected for the 7th Update on Fabry Disease, which will be held May 28-30, 2021.

The 3-day conference features, state of the art plenary presentations, structured debates 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.


Sunday May 26, 2019:

10:00 – 11:00 Pathology Working Group Report

Co-Chairs: Camilla Tøndel MD (Haukeland University Hospital) and Behzad Najafian MD (University of Washington)

   Participants: Agnes Fogo, MD (Vanderbilt University), Michael Mauer, MD (University of Minnesota), Luiz Moura, MD (Federal University of Sao Paulo), Dau-Ming Niu, MD (National Yang-Ming University) Einar Svarstad, MD (Haukeland University Hospital), Hernan Trimarchi, MD (Hospital Britanico de Buenos Aires)

11:00 – 12:00 Moderated Discussion: Overview of Specific Therapies for Fabry Disease Session Co-Chairs: Stephen Waldek MD (Sunderland University) and Andrew Talbot, MD (Royal Melbourne Hospital)

Derralyn Hughes, MD (Royal Free Hospital): Gene Therapy

 Dominique Germain, MD (Hopitâl Raymond-Poincaré): Enzyme Replacement Therapy

 Ulla Feldt-Rasmussen, MD (Rigshospitalet): Chaperone Therapy

Raphael Schiffmann, MD (Baylor Scott & White Research Institute): Substrate Reduction Therapy

12:00 – 13:00   Lunch Buffet

Opening Session

13:00 – 13:15 Aleš Linhart, MD (General University Hospital) and Vladimir Tesař, MD (Charles University): Welcome and Introduction

13:15 – 13:45 Targeting Glucosylceramide Synthesis in the Treatment of Rare and Common Renal Diseases: James A. Shayman, MD (University of Michigan)

 13:45 – 14:15 What Can Be Done to Improve Kidney Function in Fabry Disease? David G. Warnock, MD (UAB)

 14:15 – 15:00 Translating Genome Editing to the Clinic: Toni Cathomen, PhD (University of Freiburg)

15:00 – 15:30 Coffee Break

15:30 – 18:00 Gene Therapy and Fabry Disease

 Co-chairs: Toni Cathomen, PhD (University of Freiburg) and Yoshikatsu Eto, MD (Southern Tohoku Brain Research Institute)

15:30 – 16:00 Michael West, MD (FACTS Study)

 16:00 – 16:30 Marshall Huston, PhD (Sangamo Therapeutics)

 16:30 – 17:00 Shari Fallet, MD (AvroBio Inc)

 17:00 – 17:30 Gerard Short, MRCP FFPM MBA (Freeline Therapeutics)

 17:30 – 17:45 Group Discussion

18:00 – 20:30 Poster Session

Monday May 27, 2019:

 8:00 Cardiac Session

 Co-chairs: Aleš Linhart, MD (General University Hospital) and John L Jefferies MD (University of Tennessee at Memphis)

 8:00 – 8:30 Biomarkers and Assessment of Cardiac Function: Peter McCullough MD (Baylor Heart and Vascular Hospital)

 8:30 – 9:00 Left Ventricular Hypertrophy and Diastolic Dysfunction and/or Arrhythmias? Aleš Linhart, MD (General University Hospital)

  9:00 – 9:30 Valvular and Aortic Involvement in Fabry Disease:  John L Jefferies MD (University of Tennessee at Memphis)

 9:30 – 10:00 Cardiac Imaging in Fabry Disease: James Moon, MD (University College London)

 10:00 – 10:30 The IVS Splice Variant in Taiwan: Dau-Ming Niu, MD (National Yang-Ming University)

 10:30 – 10:45 Group Discussion

 10:45 – 11:15 Coffee Break

11:15 The “Cardiac” Variants

 Co-chairs: Carla EM Hollak, PhD (Amsterdam Medical Center)) and Stephen Waldek, MD (Sunderland University)

 11:15 – 11:45 N215S, R301Q and  L294S: Structural Features and Interactions with Migalastat: Scott Garman, PhD (University of Massachusetts)

 11:45 – 12:15 New Insights into the N215S Phenotype: Derralynn Hughes MD (Royal Free Hospital)

 12:15– 12:45 Response to Treatment of “Cardiac” Variants with Migalastat: Peter Nordbeck, MD (University of Würzburg)

 12:45 – 13:15 Amenable Mutations, A Critical Appraisal: Raphael Schiffmann, MD (Baylor Scott & White Research Institute)

 13:15 – 13:30 Group Discussion

 13:30 – 14:30 Working Buffet Lunch and Poster Viewing

14:30     Genetics and Phenotype Issues

 Co–Chairs: Daniel Bichet (University of Montreal) and Roberto Giugliani, MD (Hospital de Clinicas de Porto Alegre)

 14:30 – 14:55 Regulation of GLA gene expression and genetic modifiers of alpha-galactosidase deficiency: João-Paulo Oliveira, MD (University of Porto)

 14:55 – 15:20 Methylation, Epigenetics and Phenotypic Variation: Raphael Schiffmann, MD (Baylor Research Institute)

 15:20 – 15:45 Classical Phenotypes in Males and Females with Fabry Disease: Robert Hopkins, MD (Cincinnati Children’s Hospital)

 15:45– 16:10 PROPKD Score; Predicting Renal Survival in PKD: (Emilie Cornec-Le Gall, MD, PhD (University Hospital, Brest)

 16:10 – 16:35 Podocyte GL3 Inclusions; Genotype, Phenotype, Gender: (Behzad Najafian, MD (University of Washington)

16:35 – 17:00 Clinical Impact of New-borne Screening Projects: Joel Charrow, MD (Lurie Children’s Hospital of Chicago)

 17:00 – 17:15 Group Discussion

 17:30  Oral Presentations and Prizes from Poster Presentations

 Session Chair: Andrew Talbot

 4 Poster Presenters will be asked to give 10 minute oral presentations between 17:30 and 18:30

Monday Evening:

18:00 – 20:30 Poster Session

Tuesday May 28, 2019

 8:00    Neuro Session

 Co–Chairs: Alessandro Burlina, MD (St. Bassiano Hospital) and  Juan Politei, MD ((Fundación para el Estudio de las Enfermedades Neurometabólicas)

 8:00 – 8:20 Gastro-Intestinal Involvement in Fabry Disease: Juan Politei MD (Fundación para el Estudio de las Enfermedades Neurometabólicas)

 8:20 – 8:40 Pathophysiology of Small Nerve Fiber Involvement in Fabry Disease: Nurcan Üçeyler, MD (University of Würzburg)

 8:40 – 9:00 Recent findings in the CNS involvement in Fabry disease: Alessandro Burlina, MD (St. Bassiano Hospital)

 9:00 – 9:20 Assessing Pain for a Placebo-Controlled Trial in Fabry Disease: Aline Frey, PharmD (Idorsia Pharmaceuticals)

9:30    Inflammation Session

 Co-Chairs: Alberto Ortiz MD (Fundacion Jimenez Diaz) and Paula Rozenfled, MD (Universidad Nacional de La Plata)

9:30 – 10:00 NRF2: Master regulator of inflammatory signaling: W.Christian Wigley PhD (REATA Pharmaceuticals)

 10:00 – 10:25 Cellular and animal models of inflammation: Tobias Huber MD (University of Hamburg)

 10:25 – 10:50 Lyso-GB3 and Oxidative Stress: Simon Heales PhD (Great Ormond Street UCL)

 10:50 – 11:15 Inflammatory Pathways in Fabry Disease: Paula Rozenfled, MD (Universidad Nacional de La Plata)

11:15 – 11:45 Coffee Break

11:45     Lyso Session

 Co-chairs: Kevin Mills, PhD (Great Ormond Street UCL) and Christoph Wanner MD (University of Würzburg)

 11:45 – 12:30 Lyso-GB3 Analogues in Late_Onset, Attenuted Variants: Christiane Auray-Blais, PhD (Université de Sherbrooke)

 12:30 – 13:00 Serum Lyso-Gb3 and Disease Severity in Fabry disease: Albina Nowak, MD (Universitätsspital Zürich)

13:00 – 14:00  Working Buffet Lunch and Poster Viewing

14:00     Anti-ERT Antibody Session

 Co-chairs: Derralyn Hughes, MD (Royal Free Hospital) and Kathy Nicholls, MD (Royal Melbourne Hospital)

 14:00 – 14:30 Anti-Drug Antibodies; Regulatory Perspective: Amy Rosenberg, MD (FDA)

 14:30 – 15:00 Anti-Drug Antibodies; Translational Perspective: Bonita Rup, PhD (Reading MA)

 15:00 – 15:30 Assessment of Inhibitory Antibodies against Alpha-galactosidase A: Malte Lenders, PhD (University of Münster)

 15:30 – 16:00 Clinical Impact of Inhibitory Antibodies against Alpha-galactosidase A: Mirjam Langeveld, MD (Amsterdam Medical Center)

Closing Announcements