Scholarlink

Introduction <p>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.</p> Methods <p>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.</p> Results <p>Between March 2019 and April 2024, seven (<i>n</i> = 7) patients aged 2–19&#xa0;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.</p> Conclusions <p>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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年4月29日

查看全文
  • Scott Boop,
  • Dominic Nistal,
  • Adriel Barrios-Anderson,
  • W. Bruce Cherny,
  • Irene J. Chang,
  • Emily Shelkowitz,
  • Terry Kho,
  • Hannah E. Goldstein,
  • Jason Hauptman

摘要

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.