Completed
A Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type 1 Gaucher Disease
What is being tested
afegostat tartrate
Drug
Who is being recruted
Brain Diseases+14
+ Brain Diseases, Metabolic
+ Central Nervous System Diseases
From 18 to 74 Years
+19 Eligibility Criteria
How is the trial designed
Treatment Study
Phase 2
Interventional
Study Start: June 2008
Summary
Principal SponsorAmicus Therapeutics
Last updated: January 27, 2026
Sourced from a government-validated database.Claim as a partner
Study start date: June 11, 2008
Actual date on which the first participant was enrolled.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 21-day screening period, a 24-week treatment period, and follow-up visit (Day 183, end-of-study). Participants were randomized in a 1:1 ratio to 1 of 2 treatment regimens for afegostat tartrate (3 days on treatment/4 days off or 7 days on treatment/7 days off).
Official TitleA Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type 1 Gaucher Disease
Principal SponsorAmicus Therapeutics
Last updated: January 27, 2026
Sourced from a government-validated database.Claim as a partner
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.Design Details
19 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Treatment Study
These studies test new ways to treat a disease, condition, or health issue. The goal is to see if a new drug, therapy, or approach works better or has fewer side effects than existing options.
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Conditions
Criteria
Any sex
Biological sex of participants that are eligible to enroll.From 18 to 74 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Brain DiseasesBrain Diseases, MetabolicCentral Nervous System DiseasesGaucher DiseaseLipid Metabolism, Inborn ErrorsLipidosesMetabolic DiseasesMetabolism, Inborn ErrorsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNervous System DiseasesNutritional and Metabolic DiseasesSphingolipidosesLysosomal Storage DiseasesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornGenetic Diseases, InbornLipid Metabolism Disorders
Criteria
8 inclusion criteria required to participate
Confirmed diagnosis of type 1 Gaucher disease with a known genotype and a documented missense gene mutation in at least 1 of the 2 gene-encoding β-glucosidase (GBA) alleles
Clinically stable
Treatment naïve to ERT and SRT or had not received ERT or SRT in the 12 months before screening
Willing to not initiate ERT or SRT treatment during study participation
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11 exclusion criteria prevent from participating
A clinically significant disease other than Gaucher disease, severe complications from Gaucher disease, or serious intercurrent illness that precluded participation in the study in the opinion of the investigator
During the screening period, had any clinically significant findings as deemed by the investigator
Partial or total splenectomy
Documentation of moderate or severe pulmonary hypertension, defined as pulmonary arterial pressure >35 millimeters of mercury (mmHg) or significant Gaucher-related lung disease
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Study Plan
Find out more about all the medication administered in this study, their detailed description and what they involve.Treatment Groups
Study Objectives
2 intervention groups are designated in this study
This study does not include a placebo group
Treatment Groups
Group I
ExperimentalFor the first 2 weeks, afegostat tartrate was administered orally at a dose of 225 milligrams (mg) once daily (QD) for 7 consecutive days, followed by no study medication for 7 consecutive days. After 2 weeks, participants then took 225 mg afegostat tartrate QD for 3 consecutive days, followed by no study medication for 4 consecutive days. This 3-days-on/4-days-off treatment regimen was followed for 22 weeks.
Group II
ExperimentalAfegostat tartrate was administered orally at a dose of 225 mg QD for 7 consecutive days, followed by no study medication for 7 consecutive days. This 7-days-on/7-days-off treatment regimen was followed for 24 weeks.
Study Objectives
Primary Objectives
Secondary Objectives
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has no location dataSave this study to your profile to know when the location data is available.
CompletedNo study centers