Biochemical Trends During Chelation Therapy in Children with Neuro-Wilson Disease: A Prospective Observational Case Series

A bstract Monitoring copper metabolism during chelation therapy in children with neuro-Wilson disease (NWD) remains challenging, particularly given inter-individual variability and heterogeneous treatment strategies. In this prospective observational case series conducted over 18 months, serial biochemical parameters were evaluated in ten children diagnosed with NWD receiving chelation therapy. Parameters included serum copper, non-ceruloplasmin bound copper (NCC), serum ceruloplasmin, liver function tests, and 24-h urinary copper excretion. Patients received D-penicillamine and/or zinc as part of routine clinical care. Data are presented descriptively as median (interquartile range). At follow-up, median serum copper and NCC levels showed a numerical decline from baseline, whereas 24-h urinary copper excretion demonstrated substantial inter-individual variability. Serum ceruloplasmin levels were lower at follow-up, consistent with expected treatment-related effects. Liver enzymes remained largely stable over the observation period. No consistent, statistically significant changes were observed across biochemical parameters. This small prospective series highlights the marked biochemical variability observed in children with NWD undergoing chelation therapy in real-world settings. Serial monitoring of NCC and urinary copper may be useful for individual treatment titration; however, interpretation must be cautious given treatment heterogeneity and limited sample size. Larger, standardized, longitudinal studies are needed to define optimal biochemical targets in pediatric NWD.