Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience.

Background/

Objectives

Inborn errors of metabolism (IEM) are chronic, life-threatening genetic disorders with a significant cumulative prevalence worldwide. Advances in early diagnosis and treatment have significantly increased life expectancy, underscoring the need for specialised adult care units and the establishment of structured transition programmes from paediatric to adult services. We hereby present a functional transition model for IEM patients and share our implementation experience.

Methods

Initiated in 2012, the partnership between the paediatric Hospital Sant Joan de Déu (HSJD) and the adult-care centre at Hospital Clinic of Barcelona (HCB) culminated in 2019 with the transference of the first IEM patients under the structured A10! Programme. This model is structured around the transition units of paediatric and adult centres to guarantee communication and functional management. Regular monthly meetings at each centre and joint quarterly sessions allowed for protocol harmonisation and personalised care planning. Coordinated engagement of the multidisciplinary health care teams with patients and families smoothed the transfer process.

Results

Between 2019 and 2024, 94 IEM patients were successfully transferred. Diagnoses included intermediary metabolism defects (71.23%), lipid metabolism and transport disorders (4.25%), heterocyclic compound metabolism (2.12%), complex molecules and organelle dysfunction (6.37%), cofactor and mineral metabolism (2.12%), signalling defects (5.31%), and unclassified cases (8.51% of rare disorders, maybe non-IEM). Transition formats included 21 in-person joint visits in HSJD, 37 remote transitions during the COVID-19 pandemic, and 36 streamlined transfers via standardised protocols. Sessions, trainings, and meetings allowed the exchange of patients' needs and protocols.

Conclusions

The successful transference of IEM patients requires structured programmes with interdisciplinary paediatric and adult teams, joining efforts with the patient, families, and caregivers. Communication between paediatric and adult transition units is essential to promote continuity of care and patient empowerment. While constantly updated, this model has proven effective, gaining positive evaluations from healthcare professionals and patients alike, representing a scalable framework for lifelong management of IEM in adult care settings.