The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review Publisher Pubmed



Mehri A¹ ; Toosi MB² ; Tavasoli AR^{3, 4} ; Saberikarimian M^{5, 6, 7}
Source: Cerebellum Published:2024

Abstract

Ataxia telangiectasia (AT), Louis-Bar syndrome, is a rare neurodegenerative disorder caused by autosomal recessive biallelic mutations within the ataxia telangiectasia mutated (ATM) gene. Currently, there are no curative therapies available for this disorder. This review provides an overview of the latest advances in treatment methods including 1- Acetyl-DL-leucine, 2- Bone Marrow Transplantation, 3- Gene Therapy, 4- Dexamethasone, and finally 5- Red Blood Cells (RBCs) as a carrier for dexamethasone (encapsulation of dexamethasone sodium phosphate into autologous erythrocytes, known as EryDex). Most of the treatments under investigation are in the early stages, except for the EryDex System. It appears that the EryDex system and N-Acetyl-DL-Leucine may hold promise as potential treatment options. © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024.