NCT00688597

Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease

An Open-Label, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Three Dosing Regimens of Oral AT2220 in Patients With Pompe Disease

• Status: Terminated
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 3 (actual)
• Sponsor: Amicus Therapeutics · Industry
• Sex: All
• Age: 18 Years – 74 Years
• Healthy volunteers: Not accepted

Summary

The main purpose of this study was to determine the safety and tolerability of 3 different doses of duvoglustat (AT2220) in participants affected by Pompe disease. The study also evaluated the effects of duvoglustat on functional parameters in Pompe disease.

Detailed description

This was a Phase 2, open-label study in participants with Pompe disease, a lysosomal storage disorder. Duvoglustat is designed to act as a pharmacological chaperone of alpha-glucosidase, in order to restore enzyme activity. This study consisted of a 28-day screening period, an 11-week treatment period, and a 1-week follow-up period. Three dosing regimens of oral duvoglustat were to be evaluated (Cohort 1: 2.5 g daily for 3 days, followed by no study drug for 4 days; Cohort 2: 5 g daily for 3 days, followed by no study drug for 4 days; Cohort 3: 5 g daily for 7 days, followed by no study drug for 7 days). Participants meeting all eligibility criteria underwent physical examination, electrocardiogram, spirometry, muscular strength test, functional muscle test, 6-minute walk test (when appropriate), laboratory tests, magnetic resonance imaging, and muscle (needle) biopsy. Quality of life was assessed via the 36-Item Short Form Health Survey questionnaire. Functional ability and level of handicap was assessed by Rotterdam handicap scale.

Conditions

• Pompe Disease

Interventions

Type	Name	Description
DRUG	Duvoglustat	Powder in a bottle for dissolution in water for oral administration

Timeline

• Start date: 2008-12-08
• Primary completion: 2009-12-14
• Completion: 2009-12-14
• First posted: 2008-06-03
• Last updated: 2025-09-11
• Results posted: 2018-08-17

Locations

1 site across 1 country: United States