Amicus Therapeutics, a biopharmaceutical company that develops therapies for rare diseases, has infused the first patient in an Phase II drug-drug interaction study of AT2220 (duvoglustat HCl) co-administered with enzyme replacement therapy alglucosidase alfa during the treatment of Pompe disease.

Owned exclusively by Amicus, AT2220 is an investigational, orally-administered pharmacological chaperone.

The open-label multi-centre study will enrol 16 individuals with Pompe disease who have been on a stable dose and regimen of enzyme replacement therapy for at least three months, and will be administered a regularly scheduled enzyme replacement therapy infusion.

The study is intended to evaluate the safety and pharmacokinetic effects of four increasing oral doses of AT2220 along with enzyme replacement therapy versus enzyme replacement therapy alone.

Subjects receiving a single oral dose of AT2220, will be measured for alglucosidase alfa in plasma and muscle tissue, with and without AT2220, to assess the
plasma enzyme activity and protein levels during each infusion.

The study will also evaluate muscle biopsies taken seven days after each infusion to measure tissue enzyme replacement therapy activity with and without the chaperone, as well as the level of AT2220.

Amicus Therapeutics chairman and CEO John Crowley said that enzyme replacement therapy is an important first generation treatment.

”Along with our work in Fabry, the co-administration approach may represent an important expansion of our technology platform into other lysosomal storage diseases where enzyme replacement therapy is the standard of care," Crowley added.

Amicus chief medical officer Pol Boudes said the results from the study may support later-stage studies that will enable it to assess the effect of AT2220 co-administered with enzyme replacement therapy on glycogen reduction and enzyme replacement therapy-related toxicity.

The acid alpha-glucosidase knock-out mouse models have demonstrated that AT2220 co-administered with enzyme replacement therapy improved the therapy’s activity in plasma and uptake into key tissues, reducing muscle glycogen, compared to enzyme replacement therapy alone.

Pompe disease, a lysosomal storage disease caused by a deficiency in GAA activity, is characterised by progressive skeletal muscle weakness and respiratory insufficiency.

Caption: Phase 2 trial for Pompe disease.