Satellite Symposia

Sponsored Satellite Symposia

Tuesday, 3 September 2019, 12:45-13:45, Jurriaanse Zaal

Navigating and understanding consequences of high Phe in PKU
Chair: Francjan van Spronsen (Groningen, The Netherlands)

Consequences of lifelong high Phe
Francjan van Spronsen (Groningen, The Netherlands)

Diving into the pathways of neurotransmitters in PKU
Francesca Nardecchia (Rome, Italy)

Preventing Phe damage by lifelong follow-up
Alvaro Hermida (Santiago de Compostela, Spain)

Interactive discussion
Faculty & audience

Sponsored by:

This symposium has been initiated, organised and funded by BioMarin. This symposium is intended for healthcare professionals registered to attend SSIEM 2019 and may include information about licensed BioMarin products.

Tuesday, 3 September 2019, 12:45-13:45, Willem Burger Zaal

Preliminary results from the Glyde Trail.
The first randomised double blind crossover trial on the dietary management of Glycogen Storage Disease
Chair: Annemiek van Wegberg (Nijmegen, The Netherlands)

Speaker:
Helen Mundy (London, United Kingdom)

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Tuesday, 3 September 2019, 12:45-13:45, Van Weelde & Mees Zaal

Setting solid foundations in early life. The importance of nutrition for the fetus, infant and growing child with IEM
Chair: Clara D.M. van Karnebeek (Amsterdam, Netherlands)

Pre- and postnatal nutritional interaction between mother and child
François Feillet (Vandoeuvre les Nancy, France)

Relevance of precision nutrition in early life
Bernd Stahl (Utrecht, Netherlands)

The impact of nutrition in the growing child
Anita MacDonald (Birmingham, United Kingdom)

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Wednesday, 4 September 2019 – 7:30-8:30, Jurriaanse Zaal

Drug-target and disease networks: rethinking the role of glucosylceramide synthase
Chair: Hans Aerts (Leiden, The Netherlands) – Pramod Mistry (Yale University, United States)

Inborn errors of sphingolipid metabolism: Convergence of pathogenic mechanisms with those of common human diseases
Hans Aerts (Leiden, The Netherlands)

Targeting Glucosylceramide Synthesis: Fundamental studies in the treatment of rare and common diseases
Pramod Mistry (Yale University, United States)

Q&A with panel & closing

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Wednesday, 4 September 2019 – 7:30-8:30, Van Weelde & Mees Zaal

Physiological absorption of amino acids: nitrogen balance and patient outcomes

Introduction and objectives
Ania Muntau (Hamburg, Germany)

Prolonged release of amino acids: what is it and why is it important
Anita MacDonald (Birmingham, United Kingdom)

Physiological absorption of amino acids: preclinical evidences of a different outcome
Júlio César Rocha (Porto, Portugal)

Patients receiving prolonged-release amino acids for PKU management: initial evidences
Alberto Burlina (Padova, Italy)

Panel discussion: open questions
Ania Muntau (Hamburg, Germany)

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Wednesday, 4 September 2019 – 18:00-19:30, Grote Zaal

Re-evaluating short- and long-term management goals for lysosomal storage diseases
Chair: Barbara K Burton (Chicago, United States)

Welcome and Introduction
Barbara K Burton (Chicago, United States)

Lyso-Gb1 as an established biomarker for Gaucher disease clinical outcomes
Maria Fuller (Adelaide, Australia)

The search for biomarkers and treatment goals in Fabry disease
Roberto Giugliani (Porto Alegre, Brazil)

Impact of long-term treatment on the somatic and neurological manifestations of MPS II
Barbara K Burton (Chicago, United States)

Panel discussion with Q&A
All

Conclusion
Barbara K Burton (Chicago, United States)

This independent medical education activity is funded via an unrestricted educational grant from Shire, now a part of Takeda.

The Re-evaluating short- and long-term management goals for lysosomal storage diseases, Rotterdam, Netherlands, 04/09/2019–04/09/2019 has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) with 1 European CME credits (ECMEC®). Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity.

Wednesday, 4 September 2019 – 18:00-19:10, Jurriaanse Zaal

Improving patient care in MPS VI and IVA: From evidence to consensus
Chair: Christian J. Hendriksz (Pretoria, South Africa)

Challenges of rare diseases
Christian J. Hendriksz (Pretoria, South Africa)

Reducing the diagnostic delay in MPS – how?
H. Serap Sivri (Ankara, Turkey)

Keeping MPS patients on treatment – why?
Christian J. Hendriksz (Pretoria, South Africa)

My journey with MPS – a patient perspective
Markus Wirsing (Hilpoltstein, Germany)

Q&A
Faculty & audience

Sponsored by:

This symposium has been initiated, organised and funded by BioMarin. This symposium is intended for healthcare professionals registered for SSIEM 2019 and will include information about licensed BioMarin products.

Wednesday, 4 September 2019 – 18:00-20:00, Willem Burger Zaal

Exploring long-term strategies for patients with propionic and methylmalonic acidurias
Faculty:

Sufin Yap (Sheffield, United Kingdom)
Alberto Burlina (Padova, Italy)
Àngeles García-Cazorla (Barcelona, Spain)
Roshni Vara (London, United Kingdom)
Majid Alfadhel (Riyadh, Saudi Arabia)
Chiara Cazzorla (Padova, Italy)

The International Prize for Scientific Research – Arrigo Recordati 2019 – 9th edition

Award Ceremony
For the promotion and recognition of excellence in orphan disease and treatment research.

Andrea Recordati, CEO Recordati SpA, and the Review Committee Chairman Robert J. Desnick, will announce the winning project.

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Wednesday, 4 September 2019 – 18:00-19:30, Van Weelde & Mees Zaal

The Story of Arginase 1 Deficiency: Time for a New Chapter
Chairs: Martina Huemer(Bregenz, Austria)

The prologue
Martina Huemer (Bregenz, Austria)

Arginase 1 deficiency: From the beginning
Daniel Carvalho (Brasilia, Brazil)

Understanding the cast of characters
Roberto Zori( Gainesville, United States)
Spyros Batzios (London, United Kingdom)

The plot thickens: A look ahead to a potential new treatment approach
Mark Bechter (London, United Kingdom)

Can we change the ending?
All faculty

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Thursday, 5 September 2019 – 7:30-8:30, Jurriaanse Zaal

When to treat late-onset Pompe disease? The latest view from pathology to clinical evidence and guidelines
Chair: Nadine van der Beek (Rotterdam, The Netherlands)

Introduction
Nadine van der Beek (Rotterdam, The Netherlands)

Clues & Evidence from the Pathology Perspective
Beth Thurberg (Sanofi Genzyme, United States)

A Closer Look at Clinical Evidence and Real World Data
Mark Roberts (Salford Royal NHS Foundation Trust, United Kingdom)

A Deep Dive into the Latest EPOC Treatment Guidelines – when to start/maintain/stop? Dr Nadine van der Beek (Rotterdam, The Netherlands)

Q&A with panel & closing

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Thursday, 5 September 2019 – 12:45-13:45, Grote Zaal

The role of glycerol phenylbutyrate in the management of UCD: Bridging the gap between clinical data and real world experience
Chair: Carlo Dionisi Vici (Rome, Italy)

Glycerol phenylbutyrate data and clinical experience
Practical experience of glycerol phenylbutyrate as an alternative to sodium benzoate
Thorsten Marquardt (Münster, Germany)

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Thursday, 5 September 2019 – 12:45-13:45, Jurriaanse Zaal

Turning the tide in PKU, the role of PALYNZIQ®‚(pegvaliase)
Chairs: Cary Harding (Portland, United States) – Ania Muntau (Hamburg, Germany)

Changing the treatment landscape of PKU: Phase 3 study results
Ania Muntau (Hamburg, Germany)

Clinical considerations to achieve optimal PALYNZIQ® treatment
Cary Harding (Portland, United States)

The dietitian’s role: Before, during and after PALYNZIQ® treatment
Krista Viau (Boston, United States)

My personal journey with PALYNZIQ® – A patient’s perspective
Leah Chambless (Macon, GA, United States)

Q&A
Faculty & audience

‚This medicinal product is subject to additional monitoring. This will allow quick identification of new safety information. Healthcare professionals are asked to report any suspected adverse reactions. Healthcare professionals should report adverse events in accordance with their local requirements. Adverse events should also be reported to BioMarin on + 1 415 506 6179 or drugsafety@bmrn.com

Sponsored by:

This symposium has been initiated, organised and funded by BioMarin. This symposium is intended for healthcare professionals registered to attend SSIEM 2019 and may include information about licensed BioMarin products.

Thursday, 5 September 2019 – 12:45-13:45, Willem Burger Zaal

Fabry Disease: The Pharmacogenomic Approach
Chair: Dominique Germain (Paris, France)

Welcome & Introductions
Dominique Germain (Paris, France)

Alpha Galactosidase A – Our Therapeutic Approach
Hans Aerts (Leiden, The Netherlands)

Application of the GLP HEK Assay in Determining Amenability
Ken Valenzano (Cranbury, New Jersey; United States)

Pharmacogenomics – Translating Evidence into Practice
Dominique Germain (Paris, France)

Q & A – Summary and Close
Dominique Germain (Paris, France)

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Thursday, 5 September 2019 – 12:45-13:45, Van Weelde & Mees Zaal

The Advancing Science of Brain Directed Gene Therapy

Evolving gene therapy landscape targeting the CNS
Steve Gray (Dallas, United States)

The rationale for direct to CNS gene therapy
Ron Crystal (New York, United States)

Novel outcomes in neurodegenerative gene therapy trials
Cara O’Neill (Columbia, United States)

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