About Amicus therapeutics
Amicus Therapeutics: Discovering, Developing and Delivering High-Quality Medicines for Rare Metabolic Diseases
Amicus Therapeutics is a global biotechnology company that is dedicated to discovering, developing and delivering high-quality medicines for people living with rare metabolic diseases. The company was founded in 2002 and has since then been committed to improving the lives of patients suffering from rare genetic disorders.
The mission of Amicus Therapeutics is to develop innovative therapies that can make a meaningful difference in the lives of patients with rare diseases. The company's focus on rare metabolic diseases stems from the fact that these conditions are often overlooked by larger pharmaceutical companies due to their small patient populations.
One of the key strengths of Amicus Therapeutics is its expertise in pharmacological chaperones, which are small molecules that can help stabilize proteins within cells. This technology has been used by Amicus to develop a number of promising therapies for various lysosomal storage disorders (LSDs), including Fabry disease, Pompe disease and Niemann-Pick type C disease.
Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, which leads to a deficiency in an enzyme called alpha-galactosidase A (α-Gal A). This deficiency results in the accumulation of globotriaosylceramide (Gb3) within cells throughout the body, leading to progressive damage to multiple organs including kidneys, heart and brain. Amicus' lead product candidate for Fabry disease is migalastat (Galafold®), an oral medication designed specifically for patients with amenable mutations who have residual α-Gal A activity.
Pompe disease is another LSD caused by mutations in the GAA gene, which leads to a deficiency in an enzyme called acid alpha-glucosidase (GAA). This deficiency results in glycogen accumulation within cells throughout the body, leading primarily to muscle weakness but also affecting other organs such as heart and lungs. Amicus' lead product candidate for Pompe disease is AT-GAA (ATB200/AT2221), an investigational therapy consisting of recombinant human GAA co-administered with pharmacological chaperone AT2221 designed specifically for patients with late-onset Pompe disease.
Niemann-Pick type C (NPC) disease is another LSD caused by mutations in either NPC1 or NPC2 genes resulting impaired cholesterol trafficking within cells throughout body leading primarily neurodegeneration but also affecting liver and spleen function. There are currently no approved treatments available for NPC-affected individuals worldwide except supportive care measures like physical therapy or feeding tubes etc.. However there are several promising therapies under development including gene therapy approaches like AVXS-101 or Zolgensma® developed by Novartis Gene Therapy division; substrate reduction therapy like VTS-270 developed by Vtesse Inc., now owned by Mallinckrodt Pharmaceuticals; cyclodextrin-based therapeutics like Trappsol® Cyclo™ developed by CTD Holdings Inc.; or combination therapies using existing drugs repurposed from other indications like Arimoclomol being developed jointly between Orphazyme A/S & Biogen Inc..
In addition to its work on LSDs , Amicus Therapeutics has also expanded into other areas such as genetic connective tissue disorders where it has partnered with Ultragenyx Pharmaceutical Inc., cystic fibrosis where it has partnered with GlaxoSmithKline plc., Batten Disease where it acquired Celenex Inc., Epidermolysis Bullosa Simplex where it acquired Scioderm LLC etc..
Overall ,Amicus Therapeutics continues its commitment towards discovering novel treatments through research collaborations across academia & industry partners globally while ensuring access & affordability through patient assistance programs . With its strong pipeline candidates targeting unmet medical needs across various therapeutic areas ,the future looks bright at this innovative biotech firm!
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