Those Who Suffer From Orphan Diseases are Orphans No More

Imagine suffering from a debilitating potentially fatal disease so uncommon that it isn’t considered commercially viable to develop a treatment. These are rare or orphan diseases. Amicus Therapeutics is devoted to relieving the suffering of the Rare Disease Community.


The diseases that Amicus Therapeutics focuses on are inherited and classified as Lysosomal Storage Diseases. Lysosomes are a group of enzymes whose function it is to break-up large molecules in the cells and disperse the pieces through the cell for recycling. An imperfection in one of those enzymes results in a build up of large molecules ultimately killing the cell.


Migalastat is being developed by Amicus Therapeutics as a treatment for Fabry Disease (GCReport). Fabry afflicts 1 out of every 117,000 people. The symptoms of Fabry are manifold: burning and tingling in the hands and feet, skin rash, gastrointestinal, heart, and kidney problems. It can also affect the hearing and mind.


Amicus Therapeutics SD-101 is intended to treat Epidermolysis Bullosa. People who suffer from EB experience blistering of the skin that can be caused by types of skin contact others would not think twice about. With Epidermolysis Bullosa the simple act of scratching an itch can cause the skin to blister. In extreme cases, blisters can occur in the mouth and intestines.


Pompe Disease is a neuromuscular disorder. Not only does it cause muscle weakness resulting in mobility issues it can also cause the heart to become enlarged. Having Pompe Disease may also lead to respiratory problems. Amicus Therapeutics effort to combat Pompe Disease has been dubbed ATB200/AT2221.


The treatments that Amicus Therapeutics is working to develop are known as Chaperone-Advanced Replacement Therapies. Like a chaperone, the drug will in effect show malfunctioning proteins how to act as they should. As the name implies enzyme replacement therapy will replace defective or missing enzymes.


Amicus Therapeutics designs their clinical trial by gathering the input of patients, their families, care givers and medical providers. As part of their efforts to relieve the misery of members of the Rare Disease Community Amicus Therapeutics provides patients with guides to help them manage their symptoms.

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