Nathalie Dubois-Stringfellow, PhD, Chief Development Officer at Sangamo Therapeutics, discussed the promising results from their ongoing gene therapy trial to treat Fabry disease.

Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss.  Enzyme replacement therapy is the current standard treatment for this rare condition that has to be infused every two weeks. Sangamo is developing a gene therapy (isaralgagene civaparvovec,) for Fabry disease.    

As Dr Dubois-Stringfellow explains, results from the ongoing clinical trial with the gene therapy are showing promise.

The study is a Phase 1/2 dose escalation study evaluating isaralgagene civaparvovec in nine patients with Fabry disease.  As of the cutoff date, all nine patients treated in the dose escalation phase across the four dose cohorts (0.5e13 vg/kg, 1e13 vg/kg, 3e13 vg/kg and 5e13 vg/kg), sustained elevated alpha-galactosidase A (α-Gal A) activity ranging from nearly 2-fold to 30-fold of mean normal at the last date of measurement.

To learn more about Fabry disease and other lysosomal storage disorders, visit