Bridging pediatric to adult care in cystinosis: a scoping review of healthcare transition of care protocols and a roadmap for future practice

Cystinosis is a rare lysosomal storage disorder that affects approximately 1 in 100,000 to 200,000 live births worldwide. Long-term graft success in cystinosis depends on cysteamine adherence and structured multidisciplinary transition, supported by protocols developed by both pediatric nephrologists and hospital organizations. This review explores institutional and regional care models, structured programs such as the RISE protocol and Got Transition’s Six Core Elements, and major barriers including adult nephrology expertise, psychosocial stressors, and insurance coverage gaps. Additionally, we explore the impact of digital health tools for their role in supporting cysteamine adherence and maintaining continuity of care. Emerging technologies such as machine learning also provide future opportunities to improve patient care during the transition period. Transition plans must also integrate digital tools and mental health-informed strategies tailored to Gen Z and Alpha cystinosis patients. Due to the lifelong nature of cystinosis and the complexity of adolescent development, transition models are essential to promoting long-term autonomy in patients. We conducted a comprehensive search of the PubMed databases for studies published between 2000 and 2025 that addressed structured transition protocols and long-term outcomes in pediatric patients with cystinosis. A critical analysis of existing cystinosis transition protocols is essential to evaluate their strengths and limitations and to identify approaches better tailored to the needs of pediatric cystinosis patient populations. This review aims to evaluate elements of existing protocols, highlight components of a successful transition, and propose future strategies to improve care in patients with cystinosis.