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

Le résumé fourni par la source

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

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.