Rare Disease Report

Pompe Combination Therapy Gets Orphan Designation

SEPTEMBER 22, 2017
James Radke
The U.S. Food and Drug Administration (FDA) has granted Amicus Therapeutics an orphan drug designation for their ATB200 + AT2221 combination drug to treat Pompe disease.

Pompe disease is a rare inherited lysosomal storage disorder caused by deficiency of an enzyme called acid alpha-glucosidase (GAA). This novel treatment paradigm consists of ATB200, a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures, particularly mannose-6 phosphate (M6P), and when co-administered with pharmalogical chaperone AT2221, is intended enhance uptake.

There is a fairly wide spectrum of symptom severity in patients with Pompe disease, ranging from pediatric patients with an early-onset variation who have severe neuromuscular, respiratory, cardiovascular, and gastrointestinal deficiencies to those with late-onset Pompe disease who may not show symptoms until their 3rd or 4th decade.

The current treatment option for Pompe disease is the lumizyme, developed by Genzyme. It is a GAA enzyme replacement therapy (ERT), and while effective, the Amicus’ newer ERT has significantly higher levels of mannose-6-phosphate (M6P) that is expected to increase lysosomal targeting, the organelle where GAA is needed. AT2221 binds to ATB200 to help stabilize the enzyme until it reaches its target.

In a news release, John Crowley, Chairman and Chief Executive Officer of Amicus Therapeutics, said: “Today there are significant unmet needs among people living with Pompe, and this orphan drug designation recognizes the potential for ATB200/AT2221 to become a differentiated treatment paradigm for this devastating neuromuscular disease.”

Crowley further added that data from the company’s ongoing Phase 1/2 study with ATB200 + AT2221combination is showing promising results, and Amicus plans to announce more data at the International Congress of the World Muscle Society meeting in Madrid early next month.

Last week at the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) Annual Meeting in Phoenix, Arizona, Swati Sathe et al reported that oral administration with AT2221 prior to ATB200 infusion increased total GAA protein terminal-phase partial area under the curve (AUC) by approximately 25% and plasma half-life by approximately 45% relative to ATB200 20 mg/kg alone.

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