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

Condition(s) targeted: Gaucher Disease; Type 1 Gaucher Disease; Gaucher Disease, Type 1

Intervention: AT2101 (Drug)

Phase: Phase 2

Status: Not yet recruiting

Sponsored by: Amicus Therapeutics

Official(s) and/or principal investigator(s):
Eugene Schneider, MD, Study Director, Affiliation: Amicus Therapeutics

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.

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

Study design: Treatment, Non-Randomized, Open Label, Dose Comparison, Parallel Assignment, Safety/Efficacy Study

Primary outcome: 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.

Secondary outcome:

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

The tertiary objective of the study is to assess the pharmacodynamics of orally administered AT2101 in adult patients with type 1 Gaucher disease

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, and at the end of study (EOS) visit, participants will undergo a comprehensive physical examination, MRIs of liver, spleen and femoral bones, DEXA scans of femoral bones and lumbar spine (if performed in Study GAU-CL-202), and 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.

Minimum age: 18 Years. Maximum age: N/A. Gender(s): Both.

Criteria:

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

- Willing not to initiate enzyme replacement therapy (ERT) or substrate reduction

therapy (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

Royal Free Hospital, London WC1N 3BG, United Kingdom

University Research Foundation for Lysosomal Storage Diseases, Inc., Coral Springs, Florida 33065, United States

Starting date: January 2009
Ending date: December 2011
Last updated: December 22, 2008