Fabry disease is a lysosomal storage disorder caused by mutations in the galactosidase alpha gene (GLA), which leads to deficient alpha-galactosidase A (α-Gal A) enzyme activity, which is necessary for metabolizing globotriaosylceramide (Gb3). The buildup of Gb3 in the cells can cause serious damage to vital organs, including the kidney, heart, nerves, eyes, gut and skin.
Symptoms of Fabry disease can include decreased or absent sweat production, heat intolerance, angiokeratoma (skin blemishes), vision problems, kidney disease, heart failure, gastrointestinal disturbance, mood disorders, neuropathic pain and tingling in the extremities.
Isaralgagene civaparvovec is a liver-tropic rAAV 2/6 vector carrying the cDNA for human α-Gal A that is delivered through a single dose IV infusion. Isaralgagene civaparvovec aims to deliver a working copy of the GLA gene to the liver so that liver cells can start producing functional α-Gal A.
The Phase 1/2 STAAR study is a global open-label, single-dose, dose-ranging, multicenter clinical study designed to evaluate the safety and tolerability of gene therapy candidate isaralgagene civaparvovec. Isaralgagene civaparvovec requires a one-time infusion.
The STAAR study is enrolling patients who are on enzyme replacement therapy (ERT), are ERT pseudo-naïve (defined as having been off ERT for six or more months), or who are ERT-naïve.
Isaralgagene civaparvovec has received Orphan Drug designation from the U.S. Food and Drug Administration (FDA) and Orphan Medicinal Product designation from the European Medicines Agency (EMA).