GENV-002
An investigational gene-editing approach designed to establish the liver as a durable source of functional GAA enzyme.
Explore the science ↓Understanding Pompe disease
Pompe disease is a rare, inherited neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA), a lysosomal enzyme responsible for breaking down glycogen.
When GAA activity is deficient, glycogen progressively accumulates within lysosomes. This accumulation disrupts normal cellular function and contributes to progressive damage of skeletal and respiratory muscle. In infantile-onset disease, cardiac muscle can also be severely affected.
Current enzyme replacement therapies provide functional GAA but require repeated administration. Despite important clinical benefits, significant disease burden can remain, highlighting the need for approaches capable of providing sustained GAA activity.
Restoring GAA activity addresses the underlying biochemical defect in Pompe disease.
GENV-002: A liver-based approach to sustained GAA expression
GENV-002 is an investigational in vivo gene-editing approach designed to establish the liver as a durable source of functional GAA enzyme. GENV-002 can treat both infantile- and late-onset Pompe disease.
The approach combines an AAV-delivered donor template containing the human GAA sequence with lipid nanoparticle (LNP)-delivered CRISPR-Cas9 gene-editing components. Together, these components are designed to enable targeted genomic integration of the GAA sequence in liver cells.
Following successful editing, hepatocytes are intended to continuously produce and secrete functional GAA into the circulation. Circulating GAA can then be taken up by affected tissues, including skeletal, respiratory, and cardiac muscle, where restoration of lysosomal GAA activity is intended to reduce pathological glycogen accumulation.
By establishing the liver as a systemic source of GAA, GENV-002 is designed to address the multi-tissue nature of Pompe disease through sustained endogenous enzyme production.
Designed for sustained, systemic GAA delivery
GENV-002 is designed to establish the liver as a durable source of functional GAA, with enzyme secreted into the circulation for delivery to affected tissues.
GENV-HEM
Explore GeneVentiv's investigational approach to hemophilia A, with or without FVIII inhibitors.
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