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A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease | Clinical Trials | Clareo Health

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A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease

A Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type 1 Gaucher Disease

NCT00446550•Amicus Therapeutics

View on ClinicalTrials.gov

Summary

This study evaluated the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease who were not receiving enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).

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 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).

Eligibility

Age

18 - 74 years

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•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
•Male or female participants, 18 to 74 years old, inclusive
•At the screening period (Day -21 to Day -1), participants must have met at least 2 of the following criteria: platelet count of ≤150,000 per microliter, hemoglobin ≤12 grams/deciliter (g/dL) for females and ≤13 g/dL for males, liver volume ≥1.25 multiples of normal (MN), and spleen volume ≥2 MN
•All participants of reproductive potential were required to practice an acceptable method of contraception
•Provided written informed consent to participate in the study

Exclusion Criteria

•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
•History of allergy or sensitivity to the study drug or any excipients, including any prior serious allergic reaction to iminosugars
•Pacemaker or other contraindication for magnetic resonance imaging (MRI) scanning
•Pregnant or breast-feeding
•Current/recent drug or alcohol abuse
•Treatment with any investigational product in the last 90 days before study entry
•Treatment in the previous 90 days with any drug known to have a well-defined potential for toxicity to a major organ
+1 more criteria

Locations (11)

Beverly Hills, California, United States

Coral Springs, Florida, United States

Decatur, Georgia, United States

Iowa City, Iowa, United States

Kansas City, Kansas, United States

Boston, Massachusetts, United States

Cincinnati, Ohio, United States

Haifa, Israel

Tel Aviv, Israel

Johannesburg, South Africa

Key Dates

Start Date

June 11, 2008

Primary Completion Date

August 20, 2009

Completion Date

August 20, 2009

Last Updated

August 15, 2018

Enrollment

ACTUAL participants

Conditions

Gaucher DiseaseType 1 Gaucher DiseaseGaucher Disease, Type 1

Interventions

afegostat tartrate

DRUG

GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

NCT05992532

Gaucher DiseaseAcid SphingoMyelinase Deficiency

View study

RECRUITING

Institutional Registry of Rare Diseases

NCT06573723

Rare DiseasesAmyloidosis+24 more

View study

Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: August 15, 2018Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease

Inclusion Criteria

Exclusion Criteria

GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

Institutional Registry of Rare Diseases

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