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

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT00875160
• Date of registration: 02/04/2009
• Prospective Registration: No
• Primary sponsor: Amicus Therapeutics
• Public title: A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101
• Scientific title: An Open-Label Study to Assess the Pharmacokinetics, Safety, and Pharmacodynamics of Repeated Doses of Orally Administered AT2101 in Adult Patients With Type 1 Gaucher Disease
• Date of first enrolment: April 2009
• Target sample size: 1
• Recruitment status: Terminated
• URL: http://clinicaltrials.gov/show/NCT00875160
• Study type: Interventional
• Study design: Allocation: Non-Randomized, Endpoint Classification: Pharmacokinetics Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 1

Countries of recruitment

United Kingdom, United States

Contacts

• Name: Eugene Schneider, MD
• Affiliation: Amicus Therapeutics

Key inclusion & exclusion criteria

Inclusion Criteria:

- 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.

Exclusion Criteria:

- 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.



Age minimum: 18 Years
Age maximum: 65 Years
Gender: Both

Health Condition(s) or Problem(s) studied

Type 1 Gaucher Disease

Intervention(s)

Drug: AT2101

Primary Outcome(s)

To evaluate single-dose and multiple-dose pharmacokinetics of isofagomine following the oral administration of AT2101 in patients with type 1 Gaucher disease [Time Frame: Multiple times for up to three days following Day 1 and Day 10]

Secondary Outcome(s)

To evaluate the pharmacodynamic effect of WBC GCase of oral AT2101 administered in patients with type 1 Gaucher disease. [Time Frame: Days 1, 5 & 7 (optional), 10 and 17]

To evaluate the safety and tolerability of oral AT2101 administered in patients with type 1 Gaucher disease [Time Frame: Daily]

Secondary ID(s)

GAU-CL-104

Source(s) of Monetary Support

Please refer to primary and secondary sponsors