A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101

NCT00875160 | Terminated Phase 1

• 1 other identifier: GAU-CL-104
• Study Type: interventional
• Target: 1
• Locations: 2 countries
• Sites: 2

Brief Summary

This is an open-label study designed to assess if AT2101 is safe in patients with Gaucher disease and how AT2101 gets through the body after it is taken by mouth. The study is being offered to adult patients with type 1 Gaucher disease who are currently receiving a stable dose of enzyme replacement therapy (ERT) with imiglucerase. During the study, subjects will not be receiving ERT (up to 35 days). The study consists of a screening period (\~14 days), a treatment period (12 days) and a follow-up period (7 days after last dose). At two points in the study, subjects will be housed in an in-patient treatment facility for 3 days/2 nights to accommodate all necessary blood draws.

Conditions

Type 1 Gaucher Disease

Outcome Measures

Primary Outcomes (1)

• To evaluate single-dose and multiple-dose pharmacokinetics of isofagomine following the oral administration of AT2101 in patients with type 1 Gaucher disease

  Multiple times for up to three days following Day 1 and Day 10

Secondary Outcomes (2)

• To evaluate the safety and tolerability of oral AT2101 administered in patients with type 1 Gaucher disease

  Daily

• To evaluate the pharmacodynamic effect of WBC GCase of oral AT2101 administered in patients with type 1 Gaucher disease.

  Days 1, 5 & 7 (optional), 10 and 17

Study Arms (1)

AT2101

EXPERIMENTAL

Drug: AT2101

Interventions

AT2101 DRUG

225mg (nine 25mg capsules total dose) to be taken by mouth every day for 9 days (Study Days 1, 3-10)

AT2101

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Have a confirmed diagnosis of type 1 Gaucher disease with a documented gene mutation;
• Clinically stable and on a stable dose of ERT for at least 2 years before study entry, with no changes to dose level or regimen in the last 6 months;
• Willing to stop ERT for the duration of the study;
• Male or female between the ages of 18 to 65 inclusive;
• All subjects of reproductive potential are required to practice an acceptable method of contraception;
• All subjects must have a body mass index of less than 30; and
• Provide written informed consent to participate in the study.

You may not qualify if:

• 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;
• During the screening/wash out period, any clinically significant findings, based on physical exam, medical history review, lab assessment, vital sign assessment and/or other significant finding which would compromise the safety of the subject, or preclude the subject from completing the study as deemed by the Investigator;
• Partial or total splenectomy;
• History of pulmonary hypertension or Gaucher-related lung disease;
• History of allergy or sensitivity to the study drug or any excipients, including any prior serious allergic reaction to iminosugars;
• Screening or Day 1 (before dosing) 12-lead ECG demonstration QTc \>450 msec in males or \>470 in females;
• Pregnant or breast-feeding;
• Current/recent drug or alcohol abuse within the past 12 months;
• Treatment with any investigational product, including investigational forms of ERT, in the 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 or sequelae of gastrointestinal, liver or kidney disease, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs; or
• Subject is otherwise unsuitable for the study in the opinion of the Investigator.

Sponsors & Collaborators

• Amicus Therapeutics: lead

Study Sites (2)

Comprehensive Phase One

Miramar, Florida, 33025, United States

Location

Guy's Drug Research Unit

London, SE1 1YR, United Kingdom

Location

MeSH Terms

Conditions

Gaucher Disease

Interventions

AT2101

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Eugene Schneider, MD

  Amicus Therapeutics

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: April 2, 2009
• First Posted: April 3, 2009
• Study Start: April 1, 2009
• Primary Completion: July 1, 2009
• Study Completion: July 1, 2009
• Last Updated: August 19, 2010

Record last verified: 2010-08

Locations

GB (1); US (1)