Batten disease: therapeutic agents

Neuronal ceroid lipofuscinoses (NCL) are a group of hereditary monogenic neurodegenerative disorders, classified as lysosomal storage diseases. They are characterized by a polymorphic presentation of progressive neurological syndromes, severe pharmacoresistant epilepsy often accompanied by cortical myoclonus, rapidly advancing cognitive impairments, regression of acquired skills, and vision loss due to optic nerve atrophy. Currently, there are no available treatments that can reverse the progression of these diseases, which typically lead to premature death between the ages of 20 and 30 years. The treatment of NCL is primarily focused on symptomatic management, including the use of anticonvulsants, antiepileptic drugs, and antispasmodics. The aim of this review is to present the findings of experimental and clinical studies on therapeutic agents (ТА) for the treatment of patients with neuronal ceroid lipofuscinoses. Materials and Method. A thorough and comprehensive search for data on NCL was conducted on the PubMed platform using scientific articles and systematic reviews with meta-reviews. Results. The results of experimental and clinical studies on ТА have been described, including cerliponase alfa, milasen, gene therapy vectors, gemfibrozil, flupirtine, ataluren, trehalose, miglustat, tamoxifen, cysteamine bitartrate, a combination of cysteamine bitartrate with N-acetylcysteine, and acidified drinking water with hydrochloric acid. Conclusions. All studies of drugs for the treatment of NCL demonstrate only slow and subjective improvements in neurobehavioral and neurological characteristics, along with an objective trend toward normalization of biochemical and histological parameters. In the case of such a fatal neurodegenerative disorder as NCL, any improvement is highly valued.