Amicus Therapeutics: A Leader in Treating Rare Genetic Diseases

Amicus Therapeutics is a biopharmaceutical company that was founded in 2002. Its main focus is on rare genetic diseases. The company went public in 2007. It is a small company with less than a 100 employees as of 2013. The company is based in Cranbury, New Jersey but opened a second site in San Diego, California in 2008. John F. Crowley is the chairman of the board and chief executive officer of Amicus Therapeutics. He has led the company since 2005 ( Amicus Therapeutics has been the leader in four major programs that I will discuss below.


Fabry Disease Program


Fabry disease causes permanent organ damage to critical body systems and tissues. The symptoms are typically severe and begin early in life. Although there is no cure, Amicus Therapeutics is currently developing a new promising treatment.


Epidermolysis Bullosa Program


Epidermolysis Bullosa is a rare genetic disease that blisters and damages the skin. In some extreme cases, it can damage the lining of some organs. It can also be disfiguring and fatal in some cases. Unfortunately, there is currently no cure or approved treatment for this disease. Although, Amicus Therapeutics is providing hope by developing a topical treatment for the blisters and other external skin problems.


Pompe Disease Program


Pompe Disease is a inherited disease that affects the muscles and other tissues due to the lack of the enzyme acid alpha-glucosidase. It can cause muscle weakness and respiratory problems. There is currently no cure or effective treatment, but Amicus Therapeutics is developing a treatment program.


Preclinical Programs


Amicus Therapeutics has two potentially groundbreaking preclinical programs in development. The first is Lysosomal Storage Disorders. This program hopes to use enzyme replacement therapy to treat or cure the disorder (Google Finance). The second is CDKL5 Deficiency. CDLK5 is a protein that is critical for brain development. It is debilitating for most children. Amicus Therapeutics is currently developing a protein replacement therapy approach to treat this disease.


As you can see, Amicus Therapeutics is an extraordinary company that is working very hard to provide cures or treatments for rare and deadly diseases. Because of them, many people now have hope for their conditions.

Leave a Reply

Your email address will not be published. Required fields are marked *