Challenges in the Transition of Patients with Rare Diseases from Pediatric to Adult Care: Toward an Individualized, Person-Centered Model

Rare diseases (RDs) collectively affect millions of people in the European Union, and advances in early diagnosis, neonatal screening, and treatment mean that increasing numbers of patients with childhood-onset RDs now reach adulthood, often with chronic sequelae and complex, long-term care needs. Transition from pediatric to adult care is therefore a critical juncture, yet it remains, in most healthcare systems, an insufficiently structured in many healthcare systems. We performed a targeted narrative review that examines the concept of biomedical literature and relevant institutional sources, prioritizing rare-disease-specific evidence while identifying evidence extrapolated from other chronic childhood-onset conditions. We examine the distinction between transition and administrative transfer; the barriers involving healthcare systems, professionals, patients, and families; and the heterogeneous evidence regarding transition outcomes. We propose a literature-informed conceptual framework centered on early identification, assessment of readiness and clinical and psychosocial complexity, named coordination, structured handover, supported decision-making, and active post-transfer follow-up. These elements support a personalized approach in which timing, intensity, professional involvement, and patient and caregiver support are adapted to individual needs rather than chronological age or diagnosis alone. European Reference Networks, patient organizations, and national support frameworks may facilitate implementation. Structured, individualized transition pathways may preserve continuity of care, treatment adherence, and patient experience, although effects on healthcare utilization and clinical outcomes require prospective evaluation.