Amicus Therapeutics refers to a biotechnology company. It is a market leader in developing innovative therapies. These are used for treating rare as well as debilitating orphan diseases. In addition, this company has a program that includes developing innovative treatments that can be used for several genetic diseases.
There are several genetic diseases that are a result of mutations. These tend to disrupt the three-dimensional folding of proteins, which happens in a normal situation. This leads to decreasing the stability of these proteins. The genetic diseases here would include the lysosomal overload diseases. They are a result of mutations. These tend to alter the engodene enzymes of the patient. It can result in improper folding of enzymes leading to decreasing their stability. Such mutations will lead to an accumulation of substrate in certain cells of the body.
Next is the Fabry disease. This can be considered as an inherited lysosomal overload disease. It is caused due to the deficiency of the α-galactosidase A enzyme. This enzyme can degrade glycosphingolipids (fat) in lysosomes. There can be the progressive accumulation of GL-3. It can lead to morbidity as well as mortality of the Fabry disease. It leads to extreme pain, besides digestive disorders. There can even be renal failure, besides cardiac problems. It may lead to cerebrovascular accidents too.
Another inherited lysosomal overload disease is Pompe Disease, on which Amicus Therapeutics is working. This disease is caused due to the deficiency of the acid α-glucosidase (AGA) enzyme. Once the levels of AGA reduce or vanish from the body, it can lead to the accumulation of glycogen that can happen in the lysosomes of many cells in the human body. Such kind of progressive accumulation of glycogen can lead to the morbidity as well as mortality associated with the Pompe disease. It can lead to weakness in muscles along with respiratory issues.
Amicus Therapeutics is also looking at EB, which refers to a rare genetic disease. It tends to manifest itself in blistering, besides eroding any kind of erosions that may happen in the skin. There can even be mucosal involvement of various organs that may be associated here.