THE EFFICACY OF THERAPEUTIC AND SUPPORTIVE TREATMENTS FOR TAY-SACHS DISEASE TARGETING NEUROLOGICAL DECLINE: A SYSTEMATIC REVIEW

Lee Archedel C. Deluta; Glecell M. Duyanan; Zyrene Vienn L. Sune; Gecelene Estorico

doi:10.5281/zenodo.21438362

Abstract

Tay-Sachs disease (TSD) is a fatal progressive lysosomal storage disorder driven by Hex A deficiency, GM2 ganglioside buildup, and severe, often rapid neurological decline. This systematic review evaluates available evidence on therapeutic and supportive interventions targeting neurological impairment across infantile and lateonset forms. Findings show current care—including seizure control, nutritional support, and rehabilitation— only alleviates symptoms and cannot halt neurodegeneration or reverse underlying metabolic defects. Experimental approaches such as umbilical cord cell therapy and curcumin show limited symptomatic benefit, while AAV-mediated gene therapy emerges as the most promising strategy, with observed improvements in enzyme activity, neurological stability, and survival, though effects remain limited to small cohorts and cannot repair established neuronal damage. These results highlight persistent gaps in curative options, underscoring the need for earlier intervention and further rigorous study to address TSD’s progressive neurological impact

Keywords

Tay-Sachs disease, GM2 gangliosidosis, lysosomal storage disease, enzyme deficiency, hexosaminidase A, treatments.

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