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.

Note to healthcare providers and patients: Amicus Therapeutics will provide support to patients and healthcare providers to help provide continued access to treatment. For more information, contact EarlyAccess@amicusrx.com.

A Thank You to All Participants: At Amicus, we believe that all study participants are equal clinical research partners in the drug development process.  Without the support of their families, friends, and healthcare teams, the Amicus clinical research program could not move forward.  Amicus would like to express its gratitude to the Fabry community and all involved in the ongoing and completed clinical trials and all of our clinical research.

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

More information: www.clinicaltrials.gov: NCT02194985

Migalastat Monotherapy: Expanded Access Physician Initiated Request (MGM116188)

More information: www.clinicaltrials.gov: NCT01476163


More information: www.clinicaltrials.gov: NCT03500094

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.