Extension Study of AT1001 in Fabry Disease
Research type
Research Study
Full title
Open Label Extension Study to Evaluate the Long-term Safety Tolerability and Pharmacodynamics of AT1001 in Patients with Fabry Disease
IRAS ID
21670
Contact name
Atul Mehta
Sponsor organisation
Amicus Therapeutics, Inc.
Eudract number
2007-001838-13
Clinicaltrials.gov Identifier
Research summary
Fabry disease is a rare, inherited disorder that affects an enzyme, alpha galactosidase A, that's responsible for breaking down a kind of fat called globotriaosylceramide, or GL-3, in the body. People with Fabry disease have changes in their alpha-galactosidase A that prevent the enzyme from effectively breaking down GL-3. This leads to abnormal build up of GL-3 in blood vessels throughout the body, particularly affecting vessels in the skin, kidneys, heart, brain and nervous system. Over time, this can result in kidney failure, heart disease, stroke, and death.The current treatment for Fabry disease is known as enzyme replacement therapy (ERT) and there are two current drugs available, Fabrazyme and Replagal. While ERT is effective for in many aspects of the disease, it has a number of limitations. ERT has not been shown to reduce the risk of stroke, only partially removes GL-3 from some parts of the kidney and works slowly in the heart. ERT is administered intravenously and some patients may also have immune reactions to ERT. Amicus Therapeutics is developing a treatment (AT1001) for Fabry disease that's different from ERT. AT1001 is thought to work by enhancing the activity of the body's use its own alpha galactosidase A. It is thought that by restoring some of the normal functions of the enzyme, GL-3 can be removed from the body and therefore reverse or alleviate the symptoms of the disease. As AT1001 is a small molecule, it can be administered orally and has the potential to reach all parts of the body. This Phase 2 open label extension study is sponsored by Amicus Therapeutics and examines the long term safety and effects of AT1001 in people with Fabry disease. All participants will take AT1001 by mouth once each day for 3 days, followed by 4 days off drug. This cycle will repeat every week. AT1001 will be administered at 250 mg for 2 months and then 500 mg for the rest of the study. The study will run until AT1001 receives marketing authorisation or the study is discontinued. This trial will be open to people who have previously participated in a Phase 2 study of AT1001 and is expected to enrol 27 patients worldwide.
REC name
London - Harrow Research Ethics Committee
REC reference
09/H0714/34
Date of REC Opinion
5 May 2009
REC opinion
Favourable Opinion