Current treatments and future prospects for neuronal ceroid lipofuscinoses
10.3760/cma.j.cn113694-20241212-00799
- VernacularTitle:神经元蜡样脂褐质沉积症的治疗现状和未来展望
- Author:
Shichen ZHOU
1
;
Xueqin LIN
1
;
Hailan HE
1
Author Information
1. 中南大学湘雅医院儿童医学中心神经专科，长沙 410008
- Publication Type:Journal Article
- Keywords:
Neuronal ceroid lipofuscinoses;
Enzyme replacement therapy;
Gene therapy;
Stem cell therapy;
Immunotherapy;
Small molecule pharmacotherapy
- From:
Chinese Journal of Neurology
2025;58(9):1003-1011
- CountryChina
- Language:Chinese
-
Abstract:
Neuronal ceroid lipofuscinoses (NCLs) are a group of monogenic lysosomal storage diseases characterized by progressive cognitive and motor deterioration, visual impairment, epileptic seizures, and early death. The therapeutic landscape for NCLs encompasses a range of approaches, including enzyme replacement therapy, gene therapy, stem cell therapy, immunotherapy and small molecule pharmacotherapy. A recombinant human tripeptidyl peptidase 1 is the only approved enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 disease administered via intracerebroventricular infusion. Other potential treatments for the NCLs are at preclinical stages and under clinical trials. This review provides an updated progress in pre-clinical and clinical study of potential therapeutics for the NCLs.
