Scientific Programme
International conference on Advances in the Treatment of Fabry Disease
Prague A-D
Friday 16.05.2025
09:00
-
09:05
Welcome address
Aleš Linhart / Praha, CZE /
09:05
-
10:00
Session 1: Fabry disease in the context of cardiomyopathies
Differential diagnosis of a hypertrophied heart
Perry M. Elliott / London, GBR /
Cardiac amyloidosis – differential diagnosis and treatments
Pablo García Pavía / Madrid, ESP /
Hypertrophic cardiomyopathy management in the era of myosin inhibitors
Iacopo Olivotto / Firenze, ITA /
10:20
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11:40
Session 2: Fabry cardiomyopathy – advances in diagnosis and management
Contributions of cardiac MRI to the understanding of Fabry disease
James Moon / London, GBR /
Novel insights from imaging studies
Elena Biagini / Bologna, ITA /
Obstructive cardiomyopathy in Fabry disease
Josef Marek / Praha, CZE /
ECG in Fabry cardiomyopathy – a forgotten method?
Mehdi Namdar / Genève, CHE /
12:00
-
12:30
Symposium supported by SANOFI:
Practical recommendations for patients under ERT
Practical recommendations for patients under ERT
presented by Andrea Matucci
12:30
-
13:00
Symposium supported by TAKEDA:
Two Decades of Experience from the Fabry Outcome Survey
Two Decades of Experience from the Fabry Outcome Survey
Welcome and overview of objectives
Fabian Braun / Hamburg, DEU /
Background and structure of the FOS registry
Uma Ramaswami / London, GBR /
Effects of long-term agalsidase treatment on renal function
Uma Ramaswami / London, GBR /
Effects of long-term agalsidase treatment on cardiac structure
Uma Ramaswami / London, GBR /
Effects of long-term agalsidase treatment on morbidity and mortality
Uma Ramaswami / London, GBR /
Closing remarks and conclusion
Fabian Braun / Hamburg, DEU /
14:00
-
15:20
Session 3: Fabry disease and the kidney
The role of renal biopsy in the understanding of pathophysiology and treatment effects
Camilla Tøndel / Bergen, NOR /
Can we improve outcomes by SGLT2 inhibitors RAAS blockers?
Christoph Wanner / Würzburg, DEU /
Monitoring kidney disease – is serum creatinine and eGFR just enough?
David Warnock / Santa Barbara, USA /
End-stage kidney disease – what next? How do patients do on Haemodialysis and after kidney transplantation. Does the immune response to ERT differ?
Sima Canaan-Kühl / Berlin, DEU /
The role of podocytes and treatment effects
Alberto Ortiz / Madrid, ESP /
15:40
-
17:00
Session 4: Advancements in understanding mechanisms of the disease – beyond the storage
The role of alpha-synuclein in the pathogenesis of Fabry Nephropathy
Fabian Braun / Hamburg, DEU /
The role of mitochondrial dysfunction and muscular abnormalities in Fabry disease
Guido Iaccarino / Napoli, ITA /
Endoplasmic reticulum and its role in cellular function
Moran Dvela Levitt / Ramat Gan, ISR /
Agalopathy – the role of ER stress in pathophysiology of Fabry disease
Martina Živná / Praha, CZE /
17:00
-
18:00
Session 5: Setting-up a multidisciplinary team of a Fabry center
Paediatric Fabry disease – the transitional care model issue
Federico Pieruzzi / Monza, ITA /
Organization of a multidisciplinary Fabry center team
Bojan Vujkovac / Slovenj Gradec, SVN /
“Once upon a time in Prague... there was a...?”
Gabriela Dostálová / Praha, CZE /
18:00
-
18:05
Day 1 Adjourn
Aleš Linhart / Praha, CZE /
19:00
-
22:00
Dinner with expert discussion & networking
Prague A-D
Saturday 17.05.2025
08:40
-
10:00
Session 6: Current and novel therapies – where do we stand?
Switch from agalsidase beta to migalastat – registry data
Antonio Pisani / Napoli, ITA /
Migalastat – analysis of registry data, amenability testing, clinical and biomarker monitoring
Daniel G. Bichet / Montréal, CAN /
Substrate reduction therapies – where do we stand?
Dominique P. Germain / Versailles, FRA /
Update on gene therapies in Fabry disease
Raphael Schiffmann / Emeryville, CA, USA /
Enzyme-replacement therapies – long term data
Aleš Linhart / Praha, CZE /
10:20
-
11:40
Session 7: Monitoring of the disease and treatments impacts
Monitoring PROs in Fabry disease
Uma Ramaswami / London, GBR /
Measurements of migalastat levels and antibody responses
Malte Lenders / Muenster, DEU /
Antibody response to enzyme replacement therapies
Maud Janssens / Amsterdam, NLD /
Lyso Gb3 and novel biomarkers
Albina Nowak / Zürich, CHE /
12:00
-
12:30
Symposium supported by CHIESI • Global Rare Diseases
From silent damage to prompt intervention: enhancing monitoring in Fabry disease
From silent damage to prompt intervention: enhancing monitoring in Fabry disease
Robert Hopkin / Cincinnati, USA /
Welcome and introduction
Robert Hopkin / Cincinnati, USA /
Silent kidney progression in Fabry disease: the role of monitoring and the prompt intervention
Christine Kurschat / Köln, DEU /
Main Pegunigalsidase alfa renal data
Christine Kurschat / Köln, DEU /
Q&A
12:30
-
13:00
Symposium supported by AMICUS Therapeutics
Advancing Patient-Centered Care in Fabry Disease: Real-World Insights and the Impact of Migalastat Therapy
Advancing Patient-Centered Care in Fabry Disease: Real-World Insights and the Impact of Migalastat Therapy
Patient experience with Fabry disease and Migalastat
Robert Hopkin / Cincinnati, USA /
UK experience of managing patients with Fabry disease with Migalastat
Uma Ramaswami / London, GBR /
14:00
-
14:50
Split-out abstract sessions
15:00
-
16:20
Session 8: Advancements in understanding mechanisms of the disease and treatment effects
Peroxidasin (PXDN) expression in kidney tissue of patients carrying GLA gene variants, with or without Fabry
João Paulo Oliveira / Porto, PRT /
The role of inflammation in pathogenesis of cardiac involvement
Maurizio Pieroni / Firenze, ITA /
Cerebrovascular events in Fabry patients - clinical course and outcomes
Alessandro Burlina / Bassano del Grappa, ITA /
Gastrointestinal complications in Fabry patients
Juan Politei / Buenos Aires, ARG /
16:40
-
18:00
Session 9: Genetics, late onset variants, disease management and outcomes
Novel insights in Fabry genetics
Gheona Altarescu / Jerusalem, ISR /
How to read genetic test results conflicting with clinical evidence
Stanislav Kmoch / Praha, CZE /
Fabry disease due to p.F113L mutation
Olga Azevedo / Guimarães, PRT /
Fabry disease due to p.N215S mutation
Ana Jovanovic / Salford, GBR /
18:00
-
18:10
Young investigators Awards
18:10
-
18:15
Day 2 Adjourn
Dominique P. Germain / Versailles, FRA /
Posters
Friday 16.05.2025
