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A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients

This study has been completed.
Information provided by (Responsible Party):
Amicus Therapeutics Identifier:
First received: December 22, 2008
Last updated: September 7, 2012
Last verified: September 2012
This study will measure the long-term safety of AT2101 and its effects on hemoglobin, platelets, liver and spleen volume, and bone density. This study will also look at the effects of AT2101 on beta-glucocerebrosidase levels, glucosylceramide levels, and other blood markers of Gaucher disease.

Condition Intervention Phase
Gaucher Disease Type 1 Gaucher Disease Gaucher Disease, Type 1 Drug: AT2101 Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-label, Multicenter, Long-term Extension Study to Assess the Safety, Efficacy, and Pharmacodynamics of AT2101 in Adult Patients With Type 1 Gaucher Disease

Resource links provided by NLM:

Further study details as provided by Amicus Therapeutics:

Primary Outcome Measures:
  • The primary objective of the study is to evaluate the long-term safety of orally administered AT2101 in adult patients with type 1 Gaucher disease. [ Time Frame: Every 3 months ]

Secondary Outcome Measures:
  • The secondary objective of the study is to assess the long-term efficacy of orally administered AT2101 in adult patients with type 1 Gaucher disease [ Time Frame: Every 3 months ]
  • The tertiary objective of the study is to assess the pharmacodynamics of orally administered AT2101 in adult patients with type 1 Gaucher disease [ Time Frame: Every 3 months ]

Enrollment: 8
Study Start Date: January 2009
Study Completion Date: May 2012
Primary Completion Date: May 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Arm 1
AT2101 dose 1, regimen 1 (same as in the lead-in study GAU-CL-202)
Drug: AT2101
AT2101 oral capsules
Other Name: AT2101, afegostat tartrate
Experimental: Arm 2
AT2101, dose 1, regimen 2 (same as in the lead-in study GAU-CL-202)
Drug: AT2101
AT2101 oral capsules
Other Name: AT2101, afegostat tartrate

Detailed Description:

This is an open-label, long-term extension study designed to assess the long-term safety, efficacy and pharmacodynamics of AT2101 in patients with type 1 Gaucher disease who successfully complete Study GAU-CL-202. Participants may enter this study immediately upon completion of Study GAU-CL-202, or at any later time point. Each participant will continue to receive AT2101 at the same dose level and regimen as in the previous study.

Study visits will occur every 3 months. At every visit, safety evaluations will be performed and blood samples will be collected for pharmacodynamic tests. At the completion of every year of treatment in this study, or at the early termination visit, participants will undergo a comprehensive physical examination, MRIs of liver, spleen and femoral bones, DEXA scans of femoral bones and lumbar spine, and complete the SF-36 questionnaire. Duration of treatment will depend on the time of each participant's enrollment in the study. Participants will be contacted approximately 1 month after study completion for assessment of adverse events.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Male or female subjects, 18 years of age or older
  • Completed study GAU-CL-202 with no significant protocol violations or safety concerns
  • Clinically stable
  • Has not received enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) in the past 12 months and is willing not to initiate ERT or SRT during study participation
  • All subjects of reproductive potential are required to practice an acceptable method of contraception
  • Provides written informed consent to participate in the study

Exclusion Criteria:

  • During the screening period (Visit 1), any clinically significant findings which would compromise the safety of the subject, or preclude the subject from completing the study as deemed by the investigator
  • A clinically significant disease, severe complications from Gaucher disease, or serious intercurrent illness that may preclude participation in the study, in the opinion of the Investigator
  • History of allergy or sensitivity to the study drug or any excipients, including any prior serious allergic reaction to iminosugars (e.g., miglustat)
  • Pacemaker or other contraindication for MRI scanning
  • Pregnant or breast-feeding
  • Presence or sequelae of gastrointestinal, liver, or kidney disease, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs
  • Subject is otherwise unsuitable for the study in the opinion of the investigator
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00813865

United States, Florida
University Research Foundation for Lysosomal Storage Diseases, Inc.
Coral Springs, Florida, United States, 33065
Sociedad Espanola de Soccorros Mutuos
Asuncion, Paraguay
United Kingdom
Royal Free Hospital
London, United Kingdom, WC1N 3BG
Sponsors and Collaborators
Amicus Therapeutics
Study Director: Medical Director Amicus Therapeutics
  More Information

Responsible Party: Amicus Therapeutics Identifier: NCT00813865     History of Changes
Other Study ID Numbers: GAU-CL-202X
Study First Received: December 22, 2008
Last Updated: September 7, 2012

Additional relevant MeSH terms:
Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on September 19, 2017