Amicus Therapeutic Develops Drug For the Rare Genetic Disease; Fabry Disease

Amicus Therapeutics is an innovative biotechnology company focused on developing advanced therapies to treat rare and orphan genetic diseases. Their corporate headquarters are located in Cranbury, New Jersey. They also have international headquarters located in the United Kingdom and other locations in Italy, Germany, Spain, France, and Netherlands. Amicus Therapeutics is not just a company that only focuses on developing treatments for a disease ( They also focus on the patients and their family. They believe in connecting with patients on a personal and passionate level. Every treatment developed has to be able to make a meaningful difference in the patient’s lives. They make sure that every decision for a treatment is made as if they are personally living with the disease or as if they are caring for a loved one with the disease.


Currently, Amicus Therapeutics has a lead product candidate by the name of migalastat. Migalastat is a treatment being developed for Fabry disease. Fabry disease causes damage to the nervous system, heart, and the kidneys. The symptoms differ from person to person, but they can be very severe and begin at an early age. When diagnosed with Fabry disease, the individual has to receive long-term medical intervention which can be very costly.


A genetic mutation in the X chromosome, specifically in the GLA gene, causes the disease to manifest. Due to the mutated GLA gene, the enzyme alpha-Gal A is not produced or is not stable enough to reduce GL-3. The accumulation of GL-3 leads to progressive and irreversible organ damage. Amicus Therapeutics designed migalastat to prevent the accumulation of GL-3. If an individual makes alpha-Gal A in their cells, the oral drug binds to the enzyme, stabilizes it, and enables it to reach the lysosomes to degrade the accumulated GL-3 (SeekingAlpha).


Migalastat is currently in the late stages of development, and it has full approval for use in the European Union. Amicus Therapeutics is also in the process of developing treatments for Epidermolysis Bullosa (EB), a genetic disorder that causes skin blisters, and Pompe Disease, a lysosomal disorder that causes muscle weakness and respiratory problems.