Fabry Disease | Amicus Therapeutics

Fabry disease is a rare, progressive genetic disorder characterized by a defective gene (GLA) that causes an enzyme deficiency. This enzyme is responsible for breaking down disease substrate that, when deficient in patients with Fabry disease, builds up in the kidneys, one of the organ systems impacted by Fabry disease.

Investigational IV Migalastat co-formulated with Enzyme replacement therapy

We are leveraging our CHART™ (Chaperone-Advanced Replacement Therapy) platform to investigate a Fabry ERT (enzyme replacement therapy) to be formulated with intravenous migalastat. When formulated with ERT, migalastat is designed to bind to infused alpha-Gal A in circulation with the intention of stabilizing the active form of the enzyme.

Development Status

Our own proprietary cell line is being used to develop an ERT for the treatment of Fabry disease, to be formulated with investigational intravenous migalastat.

Note to healthcare providers and patients: Study 042 and program 188 in the U.S. will close in the second half of 2018. Amicus Therapeutics will provide support to patients and healthcare providers to help provide continued access to treatment. For more information, contact clinicaltrials@amicusrx.com


Migalastat Monotherapy: Phase 3 Long-Term Safety Study 042 (AT1001-042 Study)

More information: www.clinicaltrials.gov: NCT02194985


Migalastat Monotherapy: Physician Initiated Request (MGM116188)

More information: www.clinicaltrials.gov: NCT01476163