Amicus Therapeutics Continues to Fight Rare Genetic Diseases

Most people have never heard of Lysosomal Storage Disorders like Pompe and Fabry disease or the connective skin disorder Epidermolysis Bullosa. In fact, even those afflicted can suffer from these rare genetic conditions for years without a proper diagnosis. One patient with Pompe disease had debilitating muscle weakness and headaches for years before finally getting the right test to determine his affliction. Orphan diseases are often misdiagnosed by the medical and neglected by the pharmaceutical communities. However, a few companies have stepped up to the challenge. Amicus Therapeutics is a global biotechnology company trying to make a difference in the lives of those struck down by rare disorders. Learn more about the company at

Amicus Therapeutics was founded in 2002 and became a publically traded company in 2007. It is best known for the drug Galafold which is used to treat the devastating effects of Fabry disease. Fabry is an inherited disease in which the body cannot properly metabolize certain fats. As a result, these molecules can build up inside the body effecting the kidneys, heart, brain, and gastrointestinal and nervous systems. Amicus Therapeutics has been at the forefront of Fabry treatment and continues to work toward a cure.


This past October 4, 2017, Amicus Therapeutics announced a breakthrough in a trial to combat the Lysomal Storage disorder, Pompe disease. Pompe disease is a condition which effects the heart, lungs and muscular system. Patients who completed six months of treatment with the Amicus Therapeutics developed drug showed marked improvements in motor function and muscle stability.

Being born with a genetic stamp for a rare disease does not have to mean a lifetime of suffering. Amicus Therapeutics continues to work toward finding cures for the thousands of people who must face life-threatening genetic disorders. Visit Market Watch to know more about Amicus Therapeutics.

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