Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease.

ABSTRACT:

Background

Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, including globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), which results in renal, cardiac, and/or cerebrovascular disease and early death. Enzyme replacement therapy (ERT) is the current standard of care for FD; however, it has important limitations, including a low half-life, limited distribution, and requirement of lifelong biweekly infusions of recombinant enzymes.

Methods

Herein, we evaluated a gene therapy approach using an episomal adeno-associated viral 2/8 (AAV2/8) vector that encodes the human GLA cDNA driven by a liv

SUBMITTER: Deng M 

PROVIDER: S-EPMC10481556 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature