Amicus Therapeutics: On the Frontline for Treating Rare and Orphan Diseases

Amicus Therapeutics is an American biopharmaceutical company, based in Cranbury, New Jersey, which develops advanced therapies to treat several of the rare and orphan diseases. These disorders have been neglected by doctors due to their rare occurrence and affect only a small number of individuals.

 

Two of the diseases that Amicus Therapeutics focuses on, Fabry disease and Pompe disease, are characterized as Lysosomal Storage Disorders. These disorders are caused by defects in lysosomal function due to an enzyme deficiency, which results in an abnormal build-up of various toxic materials in the body’s cells. Amicus Therapeutics is developing novel enzyme replacement therapy (ERT) products for these Lysosomal Storage Disorders (https://yourbeautycraze.com/amicus-therapeutics-introduces-galafold-fabry-disease-patients/).

 

Their leading product, migalastat, treats individuals with Fabry disease and is in the late-stage development phase. Migalastat is an oral pharmacological medication and has been approved for use in the European Union under the brand name Galafold™. Adult and adolescent patients over the age of 16, with Fabry disease, with an amenable mutation of the enzyme alpha-galactosidase A, are eligible for this therapy. Amicus Therapeutics is also investigating the treatment of patients with Fabry disease who do not have an amenable mutation. Under development is a combination of intravenous migalastat co-formulated with a new enzyme replacement therapy for these individuals.

 

In order to help battle Pompe disease, Amicus Therapeutics is using Chaperone-Advanced Replacement Therapy (CHART™) to develop a new treatment therapy called ATB200/AT2221. This treatment includes using a newly engineered recombinant human acid alpha-glucosidase (rhGAA) enzyme, which is combined with an optimized carbohydrate structure called ATB200 and a small molecule pharmacological chaperone called AT2221. In 2013, this cutting-edge treatment completed the Phase 2 safety study of its development process.

 

As well, Amicus Therapeutics is currently in Phase 3 of their study for the product SD-101. When completed, they will be the first company to market a topical therapy for the rare connective tissue disorder Epidermolysis Bullosa (Glassdoor).

 

Amicus Therapeutics is on the frontline for developing cutting-edge therapies to help fight rare and orphan diseases. They are constantly striving to come up with innovative ideas to develop new therapies and help individuals living with these disorders.

 

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