Conditions: Gaucher Disease, Type 1 Type 1 Gaucher Disease Gaucher Disease
Keywords: afegostat tartrate isofagomine tartrate AT2101 Amicus Therapeutics
Allocation: RANDOMIZED | Intervention model: PARALLEL
Enrollment: 30
Healthy volunteers: no

Brief summary:
This study was conducted to test the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease already receiving enzyme replacement therapy.

Detailed description:
This was a Phase 2, open-label study in participants with Gaucher disease, a lysosomal storage disorder. Afegostat tartrate (also known as AT2101 or isofagomine tartrate) is designed to act as a pharmacological chaperone by selectively binding to misfolded β-glucocerebrosidase (GCase) and helping it fold correctly, intended to restore GCase activity. The study consisted of a 14-day screening period, a 28-day treatment period, and a 7-day wash-out period. Participants received 1 of 4 dosing regimens for afegostat tartrate.

Arms:
arm 1: Afegostat tartrate was administered orally during the 4-week treatment period. arm 2: Afegostat tartrate was administered orally once per day during the 4-week treatment period. arm 3: Afegostat tartrate was administered orally once every 4 days during the 4-week treatment period. arm 4: Afegostat tartrate was administered orally once every 7 days during the 4-week treatment period.

Interventions: intervention 1: Afegostat tartrate
Intervention descriptions: intervention 1: None

Protocol document: