A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00446550
Recruitment Status : Completed
First Posted : March 13, 2007
Last Update Posted : May 18, 2011
Information provided by:
Amicus Therapeutics

Brief Summary:
This study is being conducted to evaluate the safety and effects of AT2101 in patients with type I Gaucher disease who are not receiving ERT or SRT.

Condition or disease Intervention/treatment Phase
Gaucher Disease, Type 1 Drug: AT2101 Phase 2

Detailed Description:

Gaucher disease is a lysosomal storage disorder resulting from a deficiency in the key enzyme beta-glucocerebrosidase (GCase). The enzyme deficiency is caused by genetic mutations, which can result in the production of misfolded GCase. AT2101 is designed to act as a pharmacological chaperone by selectively binding to the misfolded GCase and helping it fold correctly, which may restore GCase activity.

This study is being conducted to test the safety of AT2101 in patients with type I Gaucher disease who have not already received enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), or who have not received ERT or SRT in the 12 months before screening. This study will also evaluate the effects of AT2101 on parameters that are commonly abnormal in Gaucher disease. The study will involve 9 visits over 29 weeks.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 19 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type I Gaucher Disease
Study Start Date : December 2007
Actual Primary Completion Date : August 2009
Actual Study Completion Date : August 2009

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Gaucher Disease

Arm Intervention/treatment
Experimental: 1
AT2101 dose regimen 1
Drug: AT2101

Arm 1: AT2101 oral capsules, dose 1, regimen 1

Arm 2: AT2101 oral capsules, dose 1, regimen 2

Experimental: 2
AT2101 dose regimen 2
Drug: AT2101

Arm 1: AT2101 oral capsules, dose 1, regimen 1

Arm 2: AT2101 oral capsules, dose 1, regimen 2

Primary Outcome Measures :
  1. The primary objective of this study is to evaluate the safety and tolerability of AT2101. [ Time Frame: 24 weeks ]

Secondary Outcome Measures :
  1. The secondary objective of the study is to evaluate the pharmacodynamic effects of AT2101. [ Time Frame: 24 weeks ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 74 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Confirmed diagnosis of type 1 Gaucher disease with a known genotype and a documented missense gene mutation in at least one of the two mutated GBA alleles
  • Clinically stable
  • Treatment naïve to enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) or has not received ERT or SRT in the 12 months before screening
  • Willing not to initiate ERT or SRT treatment during study participation
  • At the screening period visit, subjects must meet at least two of the following criteria:
  • Platelet count of ≤ 150,000 per microliter
  • Hemoglobin ≤ 12 g/dL for females and ≤13 g/dL for males
  • Liver volume ≥ 1.25 multiples of normal
  • Spleen volume ≥ 2 multiples of normal
  • All subjects of reproductive potential are required to practice an acceptable method of contraception
  • Provide written informed consent to participate in the study

Exclusion Criteria:

  • A clinically significant disease, severe complications from Gaucher disease, or serious illness that may preclude participation in the study in the opinion of the Investigator
  • During the screening period, 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 (PAP) > 35 mmHg or significant Gaucher related lung disease
  • History of allergy or sensitivity to the study drug or any excipients, including any prior serious adverse reaction to iminosugars
  • Pacemaker or other contraindication for 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
  • Presence of symptoms of gastrointestinal, liver or kidney disease, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00446550

United States, California
Tower Hematology Oncology Medical Group - Comprehensive Gaucher Treatment Center
Beverly Hills, California, United States, 90211
University of California San Francisco
San Francisco, California, United States, 94143-0749
United States, Florida
University Research Foundation for Lysosomal Storage Diseases, Inc.
Coral Springs, Florida, United States, 33065
United States, Georgia
Emory University Lysosomal Storage Disease Ctr
Decatur, Georgia, United States, 30033
United States, Iowa
University of Iowa
Iowa City, Iowa, United States, 52242
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Massachusetts
Genetics & Metabolism Center for Human Genetics
Boston, Massachusetts, United States, 02114
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, New York
New York University School of Medicine
New York, New York, United States, 10016
United States, Ohio
Lysosomal Storage Disease Center
Cincinnati, Ohio, United States, 45229
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
Mainz, Germany, 55101
Rambam Health Care Campus - Hematology and Bone Marrow Transplant Department
Haifa, Israel
Schneider Children's Medical Center of Israel
Petah-Tikvah, Israel
South Africa
Morningside Clinic
Johannesburg, South Africa
United Kingdom
Addenbrooke's Hospital, Cambridge University Hospitals NHS Trust
Cambridge, United Kingdom, CB2 2QQ
The Royal Free Hospital
London, United Kingdom, WC1N 3BG
Sponsors and Collaborators
Amicus Therapeutics
Study Director: Eugene Schneider, MD Amicus Therapeutics

Responsible Party: Eugene Schneider, MD / Medical Director, Clinical Research, Amicus Therapeutics Identifier: NCT00446550     History of Changes
Other Study ID Numbers: GAU-CL-202
First Posted: March 13, 2007    Key Record Dates
Last Update Posted: May 18, 2011
Last Verified: May 2011

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