Maurizio Scarpa | Director, Coordinating Center For Rare Diseases
MetabERN

Maurizio Scarpa, MD PhD, paediatrician, is the Director of the Regional Coordinating Centre for Rare Diseases at the University Hospital of Udine, Italy. He is Professor of Paediatrics at the Dept. for the Woman and Child Health, University of Padova, Italy, and the Co-Founder of the Brains For Brain Foundation, together with Prof. David Begley, Kings College of London, London, UK. Prof. Scarpa has extensive expertise as a basic scientist in genetics and biotechnology, as well as a clinician in the diagnosis and treatment of paediatric rare disorders; neurometabolic diseases in particular. Together with dr. Christina Lampe he founded the Center for Rare Diseases at the Helios Dr. Horst Schmidt Kliniken in Wiesbaden, Germany. He is especially interested in developing innovative health approaches for the diagnosis and the treatment of metabolic inherited diseases; to this aim he is also collaborating with major biotech companies as an external independent expert. Prof. Scarpa is the Coordinator of the European Reference Network for Hereditary Metabolic Diseases, MetabERN, formed by 101 healthcare providers in 27 EU countries (www.metab.ern-net.eu ) to facilitate patient-centered holistic activities to implement knowledge, diagnosis, management and treatment for inherited metabolic diseases.

Appearances:

Pre-Congress Workshops - Monday 27th October @ 14:00

Enabling Digitally-Enhanced Care for Rare Diseases in Europe

Lysosomal Storage Disorders (LSDs) present significant challenges, including delayed diagnoses, fragmented care pathways, and limited access to specialist care. Digital health technologies offer a transformative opportunity to address unmet needs by enabling earlier intervention, enhancing care coordination, and empowering patients and healthcare providers with innovative tools.

Utilizing interactive tools and featuring multi-stakeholder perspectives from patients to industry and policymakers, this discussion will explore the integration of digital health innovations ranging from AI to telemedicine, digital medical devices, and other connected care technologies into care pathways for rare diseases across Europe

Session led by: Chiesi Global Rare Diseases

Enrico Piccinini, Senior Vice President, EU & International, Rare Diseases, Chiesi Group

Maurizio Scarpa, Director, Coordinating Center For Rare Diseases, MetabERN

Pierantonio Russo, FCCP, FAAP, STS, Corporate Chief Medical Officer, Eversana

Kim Angel, Executive Director, International MPS Network

Alberta Spreafico, Senior Vice President, Health Innovation, Eversana

Vytenis Andriukaitis, MEP, European Parliament

Monica Otto, Associate Professor of Practice, SDA Bocconi School of Management

Day 1 - Tuesday 28 October @ 14:40

Establishing a R&D Union in Europe

Maurizio Scarpa, Director, Coordinating Center For Rare Diseases, MetabERN

Day 1 - Tuesday 28 October @ 15:00

Panel: Reimagining Diagnosis in the Era of Patient-Centered Healthcare

For many patients, the path to an accurate diagnosis is long, complex, and often life-altering. This panel will explore how timely and precise diagnosis can influence patient well-being, access to care, and long-term outcomes. By bringing together perspectives from clinicians, patient advocates, and healthcare experts, we will discuss opportunities to shorten diagnostic journeys, reduce uncertainty, and ensure that the process itself supports true patient centricity.

Moderator: Kaja Zarakowska, Head of Medical Diagnosis Innovation, UCB