Late Infantile Neuronal Ceroid Lipofuscinoses is an inherited neurodegenerative condition caused by a mutation\nin the CLN2 gene that codes for an enzyme, tripeptidyl peptidase I (TPP-1). Deficiencies in TPP-1 lead to protein\naccumulation within lysosomes and subsequent neuronal death, which produce the clinical features of the disease.\nGene therapy is considered a potential treatment option to allow functional administration of CLN2 to restore\nTPP-1 activity and distribution in the CNS. Adeno- associated viruses are being trialed as a vector for gene therapy\ndelivery. They are relatively safe and efficacious in their ability to mediate long-term gene expression at high levels\nof activity. This parallels improvements in both functional and clinical outcomes in human and animal models.\nThis article outlines the potential clinical benefits of using gene therapy, and discusses some of the limitations of\nthe trials to date.
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