satellite symposia
Tuesday, August 25th, 2026 – 12:45-13:45
Ultragenyx
Hall 5A
Challenges of current treatment in LC-FAOD and GSDIa
Case series to illustrate and highlight the challenges and opportunities in managing LC-FAOD and GSDIa
Ute Spiekerkötter (Germany)
Sara Guillén (Mexico)
Terry Derks (The Netherlands)
Malaya Mount (United States)
Tuesday, August 25th, 2026 – 12:45-13:45
Orchard Therapeutics
Hall 5B
Realising the vision for MLD
Chair: Erik Eklund (Sweden)
Moderator: Pascale Vincendon (Orchard Therapeutics France)
Ex-vivo HSC-GT for MLD: the sooner the better (long term efficacy data and sibling analysis)
Valeria Calbi (Italy)
Global MLD NBS status & Nordic MLD NBS to-date
Erik Eklund (Sweden)
Patient association voice on NBS and support needed for MLD patients and families
Mickael Scholz (Germany)
Tuesday, August 25th, 2026 – 12:45-13:45
BioMarin Pharmaceutical
Hall 5C
Unlocking new possibilities in adolescents
with PKU
Moderator: Ania C. Muntau (Germany)
Why adolescents are at critical window of intervention
Erika Vucko (United States)
Phase 3 PEGASUS outcomes: Impact on Phe levels and diet
Julia B. Hennermann (Germany)
Transforming care for adolescents: Real-world strategies
Iris Scala (Italy)
A fireside chat leaning into lived experience of PKU
An individual with PKU & Ania C. Muntau (Germany)
Tuesday, August 25th, 2026 – 12:45-13:45
Takeda
Meeting Room 101AB
Challenges in Gaucher disease: More than meets the bone
Chair: Timothy Cox (United Kingdom)
The bone paradox in Gaucher disease
Timothy Cox (United Kingdom)
Bone outcomes in Gaucher disease – What’s the verdict?
Timothy Cox (United Kingdom)
The invisible patient: Bone disease in women with Gaucher disease
Ozlem Goker-Alpan (United States)
Long-term bone outcomes in Gaucher disease: Evidence from real-world practice
Maurizio Scarpa (Italy)
Panel discussion – What must change and who is responsible?
Timothy Cox (United Kingdom), Ozlem Goker-Alpan (United States), Maurizio Scarpa (Italy)
Symposium closing remarks
Timothy Cox (United Kingdom)
Wednesday, August 26th, 2026 – 07:30-08:30
Chiesi
Hall 5A
Flexible by design: redefining treatment possibilities with Pegunigalsidase alfa
Moderator: Christina Lampe (Germany)
PEGylation at the core: how molecular engineering shapes protein properties
Diego Fornasari (Italy)
Long term clinical evidence with pegunigalsidase alfa
Patrício Aguiar (Portugal)
Flexible care in real life: experience with dosage regimens of pegunigalsidase alfa
Christina Lampe (Germany)
Wednesday, August 26th, 2026 – 07:30-08:30
Mirum Pharmaceuticals
Hall 5B
Voices that Matter
Lived Experiences With Cerebrotendinous Xanthomatosis
Learn about CTX from a leading expert in lipid metabolism and rare disease
P. Barton Duell (United States)
Hear first-hand perspectives from those affected by CTX
Evalyn shares her personal journey to diagnosis and what living with CTX means to her
Bobbi shares her experiences through diagnosis and management as a parent and caregiver to her two children living with CTX
Wednesday, August 26th, 2026 – 07:30-08:30
Otsuka Pharmaceutical
Hall 5C
PKU & the Brain - Exploring Neurodevelopment, Symptoms, and Dietary Impact
Chair: Brighid Imperiale (Otsuka Pharmaceuticals Co., Ltd., United States)
Brain Development and PKU
Deborah Bilder (United States)
Review of Neuropsychiatric Symptoms in PKU
Shawn E. Christ (United States)
Q&A Fireside Chat
Brighid Imperiale (Otsuka Pharmaceuticals Co., Ltd., United States), Deborah Bilder (United States), Shawn E. Christ (United States)
Wednesday, August 26th, 2026 – 07:30-08:30
Sanofi
Meeting room 101AB
The Diagnostic Revolution in Inherited Metabolic Diseases: From Suspicion to Precision
Chair: Dawn Laney (United States)
The Changing Landscape of Inherited Metabolic Disease Diagnosis
Dawn Laney (United States)
From Clinical Suspicion to Molecular Diagnosis
Nancy Chien (Taiwan)
Closing the Diagnostic Gap in Lysosomal Storage Disorders
Mehdi Namdar (Switzerland)
Wednesday, August 26th, 2026 – 18:30-19:30
PTC Therapeutics
Hall 5A
Evolving the Standard of Care for PKU
Chair: Ania C. Muntau (Germany) - Alberto B. Burlina (Italy)
Defining the New Standard: Current Evidence and Evolving Practice
Ania C. Muntau (Germany) - Alberto B. Burlina (Italy)
A Dietitian’s Perspective: Redefining What’s Possible
Annemiek Van Wegberg (The Netherlands)
Translating Evidence Into Clinical Practice Part 1
Ania C. Muntau (Germany)
Translating Evidence Into Clinical Practice Part 2
Erika R. Vucko (United States)
Wednesday, August 26th, 2026 – 18:30-19:30
Denali Therapeutics
Hall 5B
The Blood–Brain Barrier and Therapeutic Strategies for Neurodegenerative Lysosomal Diseases
Chair: Simon Jones (United States)
Engineering Efficient Delivery of Antibodies and Enzymes to the Brain and Other Body Tissues Through Transferrin Receptor Targeting: Transporting Biotherapeutics to the Final Frontier
Robert Thorne (United States)
The TransportVehicle™ Platform for Diseases Impacting the Brain and Body
Simon Jones (United States)
Treatment of MPS II with Intravenous Tividenofusp Alfa
Joseph Muenzer (United States)
Wednesday, August 26th, 2026 – 18:30-19:30
Amicus Therapeutics
Hall 5C
Reflecting on the Fabry journey to write the future of care
Chair: Caroline Kistorp (Denmark)
Progress to date and the unmet needs that remain
Caroline Kistorp (Denmark)
Turning insights into action
Susanne Walls (Finland)
From diagnosis to treatment with clinical data and real-world evidence
Peter Nordbeck (Germany)
Shaping the next chapter in Fabry disease care together
All speakers
Thursday, August 27th, 2026 – 07:30-08:30
Immedica Pharma AB
Hall 5A
Beyond Survival: Redefining Quality of Life in Urea Cycle Disorders
Chair: Spyros Batzios (Greece)
Defining Treatment Goals in UCDs: Are Our Current Targets Fit for Purpose?
Spyros Batzios (Greece)
Balancing Nutritional and Pharmacological Strategies: Optimizing Care Without Compromise
Erin MacLeod (United States)
Living in ”Slow Mode”: Quality of Life Challenges in Female OTC-D Patients
Soledad Kleppe (Argentina)
Where is the Limit? Redefining Motor Outcomes in ARG1-D Treatment
Marcello Bellusci (Spain)
Thursday, August 27th, 2026 – 07:30-08:30
Chiesi Farmaceutici spa
Hall 5B
Powering Next-Generation Lysosomal Storage Disorders´
Bringing together clinical, patient, innovation and policy experts this session will explore how data, digital health and AI can enhance LSDS`care.
Come meet our panel of leading voices in the filed:
Maurizio Scarpa (Italy)
Kim Angel (Canada)
Maria del Mar Manu Pereira (Spain)
Alberta Spreafico (Italy)
Thursday, August 27th, 2026 – 07:30-08:30
Travere Therapeutics
Hall 5C
Pegtibatinase: An Investigational Enzyme Replacement Therapy in Development for Treatment of Classical Homocystinuria
Speakers:
François Maillot (France)
Can Ficicioglu (United States)
Thursday, August 27th, 2026 – 07:30-08:30
Takeda
Meeting room 101AB
Not all evidence is equal: Informing Fabry treatment choices
Chair: Sandro Feriozzi (Italy)
Trials, studies and registries: framing the evidence in Fabry disease
Sandro Feriozzi (Italy)
Interpreting the evidence in Fabry disease: a hierarchy of endpoints
Patrício Aguiar (Portugal)
Twenty years of agalsidase alfa in FOS: long-term outcomes in Fabry disease
Guillem Pintos-Morell (Spain)
Positioning agalsidase alfa: personalizing therapy in Fabry disease
Sandro Feriozzi (Italy)
Expert panel: your questions, our perspectives
All faculty
Closing thoughts: Guiding your next Fabry decision
Sandro Feriozzi (Italy)