A Study of AT2101 in Patients With Gaucher Disease

Condition(s) targeted: Gaucher Disease, Type 1

Intervention: AT2101 (Drug)

Phase: Phase 2

Status: Recruiting

Sponsored by: Amicus Therapeutics

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

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). This study will also evaluate the effects of AT2101 on parameters that are commonly abnormal in Gaucher disease. The study will involve 11 visits over 27 weeks.

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 design: Treatment, Randomized, Open Label, Dose Comparison, Parallel Assignment, Safety Study

Primary outcome: The primary objective of this study is to evaluate the safety and tolerability of AT2101.

Secondary outcome: The secondary objective of the study is to evaluate the pharmacodynamic effects of AT2101.

Minimum age: 18 Years. Maximum age: 65 Years. Gender(s): Both.

Criteria:

Inclusion Criteria:

- Have a confirmed diagnosis of type I Gaucher disease with a documented gene mutation

- Have not been treated with enzyme replacement therapy (ERT) or substrate reduction

therapy (SRT) and be willing to not take ERT or SRT for the duration of the study

- Male or female subjects, 18 to 65 years old

- All subjects of childbearing potential must be using adequate birth control

- Body mass index (BMI) between 18 and 30 kg/m2 and weigh at least 60 kg for males and

52 kg for females

- 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

- History of pulmonary hypertension or significant Gaucher related lung disease

- History of allergy or sensitivity to the study drug or any excipients

- 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

Universitats-Kinderklinik, Mainz 55101, Germany; Not yet recruiting
Michael Beck, MD, Phone: 49 6131 172398, Email: beck@kinder.klinik.uni-mainz.de
Michael Beck, MD, Principal Investigator

Rambam Health Care Campus - Hematology and Bone Marrow Transplant Department, Haifa, Israel; Not yet recruiting
Hanna Rosenbaum, MD, Phone: 972-4-8542343, Email: h_rosenbaum@rambam.health.gov.il
Hanna Rosenbaum, MD, Principal Investigator

Schneider Children's Medical Center of Israel, Petah-Tikvah, Israel; Not yet recruiting
Talli Shrieber, Phone: 972-3-9253781, Email: tallish@clalit.org.il
Ian Cohen, MD, Principal Investigator

Addenbrooke's Hospital, Cambridge University Hospitals NHS Trust, Cambridge CB2 2QQ, United Kingdom; Not yet recruiting
Elizabeth Morris, Phone: 44 1223 336864, Email: liz.morris@addenbrookes.nhs.uk
Timothy Cox, MD, PhD, Principal Investigator

The Royal Free Hospital, London WC1N 3BG, United Kingdom; Not yet recruiting
Alan Milligan, Phone: 44 2074 726409, Email: alan.milligan@royalfree.nhs.uk
Atul Mehta, MD, Principal Investigator

Univesity of California San Francisco, San Francisco, California 94143-0749, United States; Not yet recruiting
Erin Nicholas, Phone: 415-476-1800, Email: NicholasE@Peds.ucsf.edu
Seymour Packman, MD, Principal Investigator

University Research Foundation for Lysosomal Storage Diseases, Inc., Coral Springs, Florida 33065, United States; Recruiting
Lisa Constantin, Phone: 954-755-1904, Ext: 115, Email: lisa@nwoncology.com
Neal Weinreb, MD, Principal Investigator

Emory University Lysosomal Storage Disease Ctr, Decatur, Georgia 30033, United States; Not yet recruiting
Karen Grinzaid, Phone: 404-778-8565, Email: kgrinzaid@genetics.emory.edu
Paul Fernhoff, MD, Principal Investigator

University of Minnesota, Minneapolis, Minnesota 55455, United States; Recruiting
Lisa Hostetler, Phone: 612-825-7422, Email: hoste005@umn.edu
Chester Whitley, MD PhD, Principal Investigator

New York University School of Medicine, New York, New York 10016, United States; Not yet recruiting
Michele Ford, Phone: 212-263-8344, Email: Michele.Ford@nyumc.org
Greg Pastores, MD, Principal Investigator

Lysosomal Storage Disease Center, Cincinnati, Ohio 45229, United States; Not yet recruiting
Laurie Bailey, Phone: 513-636-4507, Email: laurie.bailey@cchmc.org
Nancy Leslie, MD, Principal Investigator

Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania 15213, United States; Not yet recruiting
Nadene Henderson, Phone: 800-334-7980, Email: Nadene.Henderson@chp.edu
David Feingold, MD, Principal Investigator

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States; Not yet recruiting
Mei Lin Chen-Lim, Phone: 267-486-5364, Email: chenlim@email.chop.edu
Paige Kaplan, MD, Principal Investigator

Starting date: December 2007
Ending date: December 2008
Last updated: March 19, 2008