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

Mehran Beiraghi Toosi, Maryam Saberi-Karimian, Ali Reza Tavasoli, Ali Mehri

Journal: Cerebellum (London, England) 2024;23(6):2607-2615

PMID: 39327359

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.

Address: Endoscopic and Minimally Invasive Surgery Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Pediatric Diseases, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Pediatric Neurology Division, Pediatrics Center of Excellence, Myelin Disorders Clinic, Children's Medical Center, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.; Pediatric Headache Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. [email protected].; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. [email protected].; International UNESCO center for Health-Related Basic Sciences and Human Nutrition, Mashhad University of Medical Sciences, Mashhad, Iran. [email protected].

DOI: 10.1007/s12311-024-01746-2