Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease

• DOI: 10.1007/s00381-025-06822-4
• Publication Date: 2025-04-29T02:49:26Z
• Authors: Scott Boop; Dominic Nistal; Adriel Barrios-An...; W. Bruce Cherny; Irene J. Chang; Emily Shelkowitz; Terry Kho; Hannah E. Goldstein; Jason Hauptman
• Keywords: Venous access; Neuronal ceroid lipofuscinosis; Port (circuit theory)

Neuronal ceroid lipofuscinosis type 2 (CLN2) is a genetic disease caused by deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), resulting in seizures, vision/cognitive decline, and early death. Cerliponase alfa an replacement therapy approved as treatment for CLN2 disease, administered intracerebroventricular infusion via surgically implanted device. Maintaining sterility prolonged scalp-based infusions can be difficult children damage devices. We report development technique connecting intraventricular device catheter to chest port mitigate some these challenges. describe seven-patient cohort who underwent implantation our modified system ventricular distally central venous access (CVAD) anterior chest. Between March 2019 April 2024, seven (n = 7) patients aged 2-19 years placement this or had old converted CVAD system. None has experienced significant issues, infection, required revision since implantation. The use connected allows safe efficacious long-term cerliponase provides more stable well-tolerated alternative infusions.