Dr Viola Crescitelli, paediatrician at the Fondazione IRCCS San Gerardo dei Tintori in Monza, Italy applied for the MetabERN Exchange Programme, and was granted a visit to the Hospital Universitario 12 de Octubre, Madrid, Spain from May 4 to May 8, 2026. The visit was organised in collaboration with the MetabERN representative of the centre Dr Marcello Bellusci.

What were the objectives of the visit?

The main objectives of the visit were to observe the clinical practice and organisational workflows of a specialised international centre dedicated to rare metabolic diseases, and to compare diagnostic and therapeutic approaches used in the management of different inherited metabolic disorders (IMDs). Another important aim was to identify both strengths and potential critical aspects in patient management, especially in the coordination of multidisciplinary care for complex metabolic patients. This exchange visit also provided valuable insights into ongoing clinical and research activities in the field of rare metabolic and mitochondrial diseases.

What were the outcomes?

Daily attendance at the unit allowed for direct observation of outpatient clinics and patient evaluations, providing valuable insight into routine clinical workflows and decision-making processes. Participation in clinical case discussions further enriched the experience, offering the opportunity to compare approaches to complex inherited metabolic disorders and to appreciate the integrated nature of patient management within the centre.

In addition, visit to the Paediatric Clinical Trial Unit provided a comprehensive overview of the institution’s strong commitment to translational research and clinical innovation in rare metabolic diseases. The visit to the Transition Unit for adolescent patients highlighted the structured pathway in place for the transfer of care from paediatric to adult services, emphasising continuity and long-term management of chronic conditions.

These activities contributed to an improved understanding of international best practices in rare metabolic diseases and offered practical insights that can be integrated into local clinical practice. Finally, the experience represented an important opportunity to establish professional relationships and explore future possibilities for scientific and clinical collaboration between the two centres.

“Overall, this exchange represented a moment of professional and personal growth for me, and I would definitely recommend it to other young physicians interested in metabolic diseases and international collaboration.”

Dr Viola Crescitelli, paediatrician