Alexander Disease: Scientific Advancement and Therapeutic Intervention in Rare Disease Research

Abstract

Alexander Disease (AxD) is a rare, heritable white matter condition, or leukodystrophy, that helps to understand how collaborative, translational research can identify therapeutic options in a complex illness. AxD is a rare disease, first described in 1949, that affects approximately one in 2.7 million births. The disease hinders the function of the central nervous system (CNS) through the biotoxic overproduction of protein aggregates which cause the deterioration of the myelin sheath. Given the extreme rarity of AxD, disease-specific research is relatively limited, and there is no disease-modifying treatment currently available. At present, a clinical trial is underway to examine the safety and efficacy of Ionis Pharmaceuticals’ ION373, an Antisense Oligonucleotide (ASO), that has reported success in preventing the progression of AxD in mouse models. This paper reviews the key components of AxD, therapeutic designs for AxD, and ultimately suggests future directions to optimize the therapeutic approach. This review also aims to promote rare disease awareness, as scientific progress for conditions like Alexander Disease is achieved through advocacy and promotion.