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.

Clinical Trials

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


Preclinical Gene Therapy Program

Amicus announced a major collaboration with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania (Penn) to pursue research and development of novel gene therapies for Fabry disease. This relationship will combine Amicus’ protein engineering and glycobiology expertise with Penn’s adeno associated virus (AAV) gene transfer technologies to develop AAV gene therapies designed for optimal cellular uptake, targeting, dosing, safety and manufacturability.