Same-Day Approach for Combined Intravitreal and Intracerebroventricular Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2025-06-10 DOI:10.1016/j.pediatrneurol.2025.06.007

David L. Rogers MD , Jill E. Blind PharmD, CCRP , Troy Kienzle PharmD, MS , Emily De Los Reyes MD , Thomas A. Mendel MD, PhD , Catherine O. Jordan MD

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引用次数: 0

Abstract

Background

Classic late infantile neuronal ceroid lipofuscinosis (CLN2) is caused by a biallelic mutations of the TPP1 gene. Vision loss begins around age four years, resulting in blindness by age seven to ten years. Intracerebroventricular cerliponase alfa (Brineura; BioMarin) is indicated to slow the loss of ambulation in pediatric patients with CLN2. However, treated children continue to experience visual loss. Intravitreal cerliponase alfa allows the enzyme to target tissues in the eye, offering a treatment option.

Methods

We developed a pathway for same-day administration of both intravitreal and intracerebroventricular cerliponase alfa using a preparation technique that takes advantage of the overfill in the vial.

Results

The intravitreal injection of cerliponase alfa is given every 4 weeks. The patient arrives and is registered for both procedures. Sterile technique is used to compound the intracerebroventricular infusion and the intravitreal injections. The intravitreal injection is performed under anesthesia using sterile technique in each eye. The dose of cerliponase alfa injected is 0.2 mg diluted in 0.05 mL of artificial cerebrospinal fluid. The intracerebroventricular infusion is then administered per standard protocol in the infusion center.

Conclusions

We believe our pathway can be applied at all centers that are currently administering intracerebroventricular cerliponase alfa and that have the ophthalmologic expertise available to administer intravitreal injections.

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玻璃体内和脑室内联合酶替代治疗预防2型神经性脑蜡样脂褐膜病儿童视网膜疾病进展的同日方法

典型的晚期婴儿神经性神经样脂褐变（CLN2）是由TPP1基因的双等位基因突变引起的。四岁左右开始视力丧失，导致七到十岁失明。脑室内毛脂酶；生物素（BioMarin）可减缓小儿CLN2患者的行动能力丧失。然而，接受治疗的儿童继续经历视力丧失。玻璃体内的毛脂酶阿尔法允许酶靶向眼部组织，提供了一种治疗选择。方法：我们开发了一种利用小瓶中过填充的制备技术，在玻璃体内和脑室内同时给药的途径。结果玻璃体内注射α cerliponase，每4周注射一次。病人来了，登记了两个程序。采用无菌技术将脑室内注射与玻璃体内注射结合使用。玻璃体内注射是在麻醉下用无菌技术在每只眼睛进行的。注射cerliponase alfa的剂量为0.2 mg，稀释于0.05 mL人工脑脊液中。然后在输液中心按照标准方案进行脑室内输液。结论：我们相信我们的途径可以应用于所有目前使用脑室内cerliponase α和具有眼科专业知识的玻璃体内注射的中心。

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.