Amicus Therapeutics is a biotechnology company focused on developing advanced therapies for rare genetic diseases, particularly those affecting metabolic functions. The company utilizes innovative technology platforms to create treatments that address the underlying causes of these diseases. One of their key products, POMBILITI, is designed for adult patients with late-onset Pompe disease who are not responding to existing enzyme replacement therapies. This product is administered in combination with OPFOLDA, highlighting the company's commitment to providing effective treatment options for patients with complex medical needs.

The safety and efficacy of POMBILITI and OPFOLDA are supported by clinical trials, which have identified potential adverse reactions and contraindications associated with their use. Notably, patients may experience severe hypersensitivity reactions and infusion-associated reactions, necessitating careful monitoring during administration. Amicus Therapeutics emphasizes the importance of patient safety and provides guidelines for managing potential risks, including the need for pretreatment with antihistamines and the availability of emergency medical support during infusions. This comprehensive approach underscores the company's dedication to ensuring patient access to effective therapies while prioritizing safety.

United States

Amicus Therapeutics, Inc., a biotechnology company, engages in the discovery, development, and commercialization of therapies to treat a range of rare and orphan diseases. The company offers Galafold, an orally administered small molecule pharmacological chaperone for the treatment of Fabry disease. It is also conducting Phase 3 (ATB200-03) clinical study of AT-GAA for Pompe disease. The company has collaboration and license agreements with Nationwide Children's Hospital and University of Pennsylvania. Amicus Therapeutics, Inc. was founded in 2002 and is headquartered in Philadelphia, Pennsylvania.

Genetic Diseases

Rare diseases

Amicus Therapeutics

Fabry disease

Migalastat is a pharmacological chaperone that reversibly binds to the active site of the alpha-galactosidase A (alpha-Gal A) protein (encoded by the galactosidase alpha gene, GLA),
which is deficient in Fabry disease. This binding stabilizes alpha-Gal A allowing its trafficking from the endoplasmic reticulum into the lysosome where it exerts its action. In the lysosome, at a lower pH and at a higher concentration of relevant substrates, migalastat dissociates from alpha-Gal A allowing it to break down the glycosphingolipids globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3). Certain GLA variants (mutations) causing Fabry disease result in the production of abnormally folded and less stable forms of the alpha-Gal A protein which, however, retain enzymatic activity. Those GLA variants, referred to as amenable variants, produce alpha-Gal A proteins that may be stabilized by migalastat thereby restoring their trafficking to lysosomes and their intralysosomal activity.
 
<a href="https://www.amicusrx.com/pi/galafold.pdf">Source</a>

Galafold (migalastat)

Pompe Disease

<a href="https://www.globenewswire.com/Tracker?data=2fsrJIrO50oqUGgaSn6tZjXGQGN9IsmtpHjxulKqDWgiL6X6Yha-MxGqU1IJe2krYbBZQV8jjA_QjXbgLetdkv_y3DL1dv_xre_UwEIjZsLUDYdWu3nkWPEb-DUjYtm9tphZotZlv8TzyP_mW32uSIreu_q78UrkQIaR4ssWrO12BezZDgV_JVCyLI2YFPIDoBfK0tAz4wif1c0aOArcLA21rG4ri9ELSYzpIUHG4wZcZ_G8iRhNA7Rnn8YbYTkepfDUxwMPmXaQBdD_Pyr3CQ==" rel="nofollow" target="_blank">AT-GAA</a>&nbsp;is &nbsp;an investigational two-component therapy that consists of &nbsp;cipaglucosidase alfa (ATB200), a unique recombinant human acid &nbsp;alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures, &nbsp;particularly bis-phosphorylated mannose-6 phosphate (bis-M6P) glycans, &nbsp;to enhance uptake into cells, administered in conjunction with miglustat &nbsp;(AT2221), a stabilizer of cipaglucosidase alfa. In preclinical studies, &nbsp;AT-GAA was associated with increased levels of the mature lysosomal &nbsp;form of GAA and reduced glycogen levels in muscle, alleviation of the &nbsp;autophagic defect and improvements in muscle strength.
<a href="https://ir.amicusrx.com/news-releases/news-release-details/amicus-gaa-shows-clinically-meaningful-significant-improvements">Source</a>

Pombiliti® (cipaglucosidase alfa) + Opfolda® (miglustat)

Batten Disease

AT-GTX-502 is a novel gene therapy in Phase 1/2 development for CLN3 &nbsp;Batten disease, a rare, fatal, inherited lysosomal disorder with no &nbsp;approved treatment that primarily affects the nervous system. AT-GTX-502 &nbsp;is dosed in a one-time infusion to deliver a functional copy of the &nbsp;CLN3 gene to cells of the central nervous system. The therapy is &nbsp;designed to address the underlying enzyme deficiency that results in &nbsp;progressive cell damage and neurodevelopmental and physical decline. In &nbsp;the U.S., AT-GTX-502 was granted Fast Track Designation and Rare &nbsp;Pediatric Designation by the United States Food and Drug Administration. &nbsp;AT-GTX-502 also holds Orphan Drug designations in both the U.S. and in &nbsp;the EU.
<a href="https://ir.amicusrx.com/news-releases/news-release-details/amicus-therapeutics-announces-positive-initial-clinical-data">Source</a>

AT-GTX-502

AT-GTX-501 is a novel gene therapy in Phase 1/2 development for CLN6 &nbsp;Batten disease, a rare, fatal, inherited lysosomal disorder with no &nbsp;approved treatment that primarily affects the nervous system. AT-GTX-501 &nbsp;is dosed in a one-time intrathecal infusion to deliver a functional &nbsp;copy of the CLN6 gene to cells of the central nervous system. The &nbsp;therapy is designed to address the underlying enzyme deficiency that &nbsp;results in progressive cell damage and neurodevelopmental and physical &nbsp;decline. In the U.S., AT-GTX-501 was granted Rare Pediatric Disease and &nbsp;Orphan Drug designations by the United States Food and Drug &nbsp;Administration. In the EU, the Company holds PRIME and orphan medicinal &nbsp;product designations.
<a href="https://ir.amicusrx.com/news-releases/news-release-details/amicus-therapeutics-announces-additional-positive-interim">Source</a>

Amicus Therapeutics

Company Details