Pompe Disease Clinical Trial
Official title:
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
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.
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.
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