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Amicus Therapeutics: Developing Treatments for Rare Genetic Illnesses

Where can a parent turn if their child has a rare genetic disease with no known treatment or cure? What hope is there to develop treatments for diseases and conditions that do not impact massive numbers of people but which can kill your child or loved one. Amicus Therapeutics, through its development of new and innovative therapies for rare genetic diseases, is working to research and develop treatments that could make the difference between life and death for the children and families affected.


Amicus Therapeutics, founded on February 4, 2002, and which went public in 2007, is an American biopharmaceutical company based In Cranbury, New Jersey that works to develop treatments and produce therapeutic products for rare and “orphan” diseases. An “orphan” disease is a rare disease that is usually caused by a genetic defect and affects only a very small percentage of the population.


Amicus Therapeutics specifically works on treatments on what are called lysosomal storage diseases (LSD) which comprise approximately 50 rare inherited metabolic diseases that have an incidence of approximately 1:100,000. This group of diseases is caused by genetic defects in enzymes that affect the normal digestive functioning of lysosomes which are sac-like structures within cells.


Amicus Therapeutics has produced remarkable advances in the treatment of diverse types of lysosomal storage diseases. As recently as August 15, 2017, Amicus Therapeutics announced approval by the Australian Therapeutics Goods Administration for “Galafold” for the treatment of Fabry Disease in patients 16 years and older with an “amenable” genetic mutation. Fabry disease is a type of lysosomal storage disease that results in the buildup of certain fats in the body’s cells and which can be fatal. Galafold works by stabilizing the dysfunctional enzyme allowing it to work properly to clear the accumulating substrate. Amicus Therapeutics Chairman and CEO John F. Crowley emphasized the importance of ”… providing the first oral precision medicine for Fabry disease to patients throughout the world.” It is impossible to represent a parent’s gratitude to Amicus Therapeutics for their courageous and life-saving innovations that can save lives (YahooFinance).

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