AAV-RAB27A

AAV-RAB27A is an experimental gene therapy construct that utilizes an adeno-associated virus (AAV) vector to deliver a functional copy of the *RAB27A* gene. This gene encodes a member of the Rab family of small GTPases, which is essential for vesicle trafficking, specifically the transport of melanosomes in melanocytes and the secretion of lytic granules in cytotoxic T lymphocytes. AAV-RAB27A is primarily investigated for two distinct therapeutic strategies: as a gene replacement therapy for **Griscelli Syndrome Type 2 (GS2)** and as a "bypass" therapy for **Choroideremia**. In GS2, mutations in *RAB27A* lead to pigmentary dilution and life-threatening hemophagocytic lymphohistiocytosis (HLH); the therapy aims to restore normal cellular trafficking and immune function. In Choroideremia, a retinal degeneration typically caused by mutations in the *CHM* gene (encoding REP1), RAB27A remains unprenylated and dysfunctional. Research suggests that AAV-mediated overexpression of RAB27A can compensate for the loss of REP1 by utilizing alternative prenylation pathways or direct membrane recruitment, thereby preserving the health of the retinal pigment epithelium (RPE) and photoreceptors.

Other names

Adeno-associated virus-RAB27AAAV-hRAB27AAAV-hRAB-27AAAV-hRAB 27AAAV-mediated RAB27A