An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II

Treatment for mucopolysaccharidosis II (MPS II; Hunter syndrome) via enzyme replacement therapy with intravenous idursulfase (Elaprase) has been available for over 15 years. This treatment has led to survival of more patients into adulthood and a concomitant rise in the need for transition of care from paediatric to adult care teams; however, implementation of transition pathways is not standardized. This cross-sectional, non-interventional, multi-country qualitative interview study recruited patients with MPS II ( n = 13), caregivers of patients with MPS II ( n = 23) and healthcare professionals ( n = 24) across six countries (Canada, Colombia, Germany, Mexico, the UK and the USA) to investigate approaches to transition of care in MPS II. Data were collected via a sociodemographic questionnaire, a clinical characteristics form and semi-structured interviews. The interviews identified four overarching themes: transition of care approaches and their drivers, components of a successful transition programme, challenges or barriers to transitioning to adult care and suggested improvements to transition of care. Transition pathways showed high variability within and between countries. Participants reported essential items for successful transition, including continuity of care, a key contact person and empowering patients as early as possible in the process. Proposed improvements for transition included additional educational/support resources, psychological support and implementation of protocols to guide a standardized approach. Our study highlights the need for the establishment of common standards for the transition of care from paediatric to adult services for patients with MPS II. Based on the interview responses, we have proposed additional considerations for patients with neuronopathic MPS II. The findings may inform the development of effective transition practices for MPS II and other rare diseases, to optimize the transition of care experience for patients, caregivers and healthcare professionals.