Amicus Therapeutics Works to Ensure that Those With Rare Diseases Are “Orphans” No More

In the United States a rare disease is any disease that afflicts fewer than 200,000 people. Global estimates places the number of individuals with rare diseases at 350 million, 30,000 of which live in the US. Of the 7,000 known rare diseases 5,600 are genetic.

Pharmaceutical companies usually do not consider it commercially viable to develop treatments aimed at rare diseases. As a result, treatments are available for only five-percent of rare diseases. The drugs that are developed are called “Orphan Drugs”. In 1983 congress passed the Orphan Drug Act to encourage the development of treatments for rare diseases like ALS, Tourette’s Syndrome, Huntington’s Disease, and Muscular Dystrophy. Visit to know more about Amicus Therapeutics.

Headquartered in Cranbury New Jersey, the bio-pharmaceutical company Amicus Therapeutics has been in business for 17 years. A bio-pharmaceutical is a drug made wholly or partially from naturally occurring chemical compounds. The company focuses on finding treatments for rare diseases.

Amicus Therapeutics especially concentrates on lysosomal storage disorders. Lysomes are cellular enzymes charged with clearing large molecules from cells. There are multiple Lysomes involved in this process and a defect in anyone of those enzymes disrupts the clearing process causing cells to become engorged with large molecules ultimately leading to their death. Visit Google Finance to know more about Amicus Therapeutics.

Chaperone-Advanced Replacement Therapy is the foundation of Amicus Therapeutics’ enzyme replacement therapies (ERTs). ERT introduces pharmacological chaperones into cells. Chaperones are molecules, that upon entering a cell cause malfunctioning proteins to work properly. Amicus Therapeutics has been credited with having “the broadest portfolio of small molecule pharmacological chaperones” of any pharmaceutical company.

In 2014 Amicus Therapeutics began developing Migalastat which is marketed under the name Galafold. Galafold is intended to treat Fabry Disease one of the previously mentioned lysomal storage disorders. The FDA has qualified Galafold as an orphan drug. In 2016 The European Commission approved the drug for distribution.


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