vocabulary: name: Amicus Therapeutics Vocabulary description: >- Domain vocabulary for Amicus Therapeutics, a global rare disease biotechnology company focused on genetically defined conditions — particularly lysosomal storage disorders. Covers Amicus's approved therapies (Galafold for Fabry disease and Pombiliti + Opfolda for late-onset Pompe disease), clinical pipeline, scientific platforms, and the corporate context following BioMarin Pharmaceutical's April 2026 acquisition. version: 1.0.0 created: '2026-05-23' modified: '2026-05-23' source: https://www.amicusrx.com terms: - term: Rare Disease definition: >- A condition that affects a small percentage of the population. In the United States a disease is considered rare if it affects fewer than 200,000 people; in the European Union the threshold is 1 in 2,000. Amicus's entire portfolio targets rare, genetically defined conditions. tags: - Disease Category - Therapeutic Focus - term: Lysosomal Storage Disorder (LSD) definition: >- A group of approximately 50 inherited metabolic diseases caused by enzyme deficiencies that lead to harmful accumulation of substrates within cellular lysosomes. Fabry disease and Pompe disease — the two indications addressed by Amicus's approved medicines — are both LSDs. tags: - Disease Category - Genetics - term: Fabry Disease definition: >- An X-linked lysosomal storage disorder caused by variants in the GLA gene that lead to deficient alpha-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide (Gb3) in cells. Symptoms include neuropathic pain, renal failure, cardiomyopathy, and cerebrovascular events. Treated by Amicus with Galafold (migalastat) in patients with amenable GLA variants. tags: - Indication - Genetic Disease - term: Pompe Disease definition: >- An autosomal recessive lysosomal storage disorder caused by deficient acid alpha-glucosidase (GAA) enzyme activity, leading to glycogen accumulation in muscle and progressive muscle weakness. Late-onset Pompe disease (LOPD) is treated by Amicus with the two-component Pombiliti + Opfolda regimen. tags: - Indication - Genetic Disease - term: Galafold definition: >- Brand name for migalastat, the first and only oral therapy for adults with Fabry disease who have a galactosidase alpha (GLA) gene variant that is amenable (responsive) to the drug. Approved by the European Commission in May 2016 and subsequently by additional regulators worldwide. tags: - Product - Medicine - term: Migalastat definition: >- The generic name of Galafold. A small-molecule pharmacological chaperone that selectively and reversibly binds to amenable mutant forms of alpha-galactosidase A to stabilize the enzyme, facilitate its trafficking to lysosomes, and restore its activity. tags: - Active Ingredient - Small Molecule - term: Pombiliti definition: >- Brand name for cipaglucosidase alfa-atga, a bis-M6P-enriched enzyme replacement therapy (ERT) designed to deliver active GAA enzyme directly to muscle cells for improved binding and uptake. Used in combination with Opfolda for adults with late-onset Pompe disease weighing 88 lb or more who are not improving on their current ERT. tags: - Product - Medicine - term: Opfolda definition: >- Brand name for miglustat as used in Pompe disease — described by Amicus as the first and only oral enzyme stabilizer designed for LOPD. Opfolda stabilizes Pombiliti within the bloodstream, supporting delivery of active enzyme to muscle tissue. tags: - Product - Medicine - term: Pharmacological Chaperone definition: >- A small molecule that selectively binds to a target protein, stabilizing its proper conformation and improving its folding, trafficking, and function. Migalastat is a pharmacological chaperone for amenable mutant alpha-galactosidase A. tags: - Drug Modality - Mechanism - term: Enzyme Replacement Therapy (ERT) definition: >- A treatment approach for enzyme deficiency disorders in which the missing or defective enzyme is administered exogenously. Pombiliti is a next-generation, bis-M6P-enriched ERT designed for improved muscle uptake in Pompe disease. tags: - Drug Modality - Mechanism - term: Amenable Variant definition: >- A variant in the GLA gene whose mutant alpha-galactosidase A protein product responds to (is stabilized by) migalastat in a validated cell-based assay. Amenability is the central eligibility criterion for Galafold therapy. tags: - Eligibility - Genetics - term: Bis-M6P (Bis-Mannose-6-Phosphate) definition: >- A glycan modification enriched on the cipaglucosidase alfa molecule (Pombiliti) to improve binding to the cation-independent mannose-6-phosphate receptor on muscle cells, increasing cellular uptake of the replacement enzyme. tags: - Biochemistry - Drug Design - term: Clinical Trial definition: >- A prospective research study evaluating the safety and efficacy of a candidate therapy. Amicus operates active Phase 3 and observational studies across Fabry disease, Pompe disease, and focal segmental glomerulosclerosis (ACTION3 / DMX-200), and frames participants as "equal clinical research partners". tags: - Research Method - Pipeline - term: Expanded Access Program (EAP) definition: >- A regulatory pathway by which a patient with a serious or life-threatening condition may access an investigational therapy outside of a clinical trial. Amicus documents an Expanded Access Program on its corporate site. tags: - Regulatory - Patient Access - term: Patient Advocacy definition: >- A long-standing pillar of Amicus's operating model: partnership with patient organizations and rare-disease communities to inform research priorities, support diagnostic odysseys, and improve access to approved therapies. tags: - Stakeholder Engagement - Patient Support - term: BioMarin Pharmaceutical definition: >- A global rare disease biotechnology company headquartered in San Rafael, California. BioMarin announced its agreement to acquire Amicus Therapeutics in December 2025 for $4.8 billion and completed the acquisition on April 27, 2026, making Amicus a wholly owned subsidiary. tags: - Parent Company - Corporate - term: NASDAQ FOLD definition: >- The ticker symbol under which Amicus Therapeutics traded on the Nasdaq Stock Market prior to the close of its acquisition by BioMarin on April 27, 2026. The ticker has since been delisted as Amicus is no longer publicly traded as a standalone entity. tags: - Financial - Historical - term: Focal Segmental Glomerulosclerosis (FSGS) definition: >- A rare kidney disease characterized by scarring of segments of the glomeruli, leading to proteinuria and progressive renal dysfunction. The ACTION3 (DMX-200) Phase 3 study is evaluating an investigational therapy for FSGS in the Amicus pipeline. tags: - Indication - Rare Disease - term: Princeton, New Jersey definition: >- The corporate headquarters of Amicus Therapeutics, where the company was founded on February 4, 2002. tags: - Headquarters - Corporate