Amicus Triumphs: FDA Gives Green Light to Groundbreaking Treatment for Rare Muscle Disorder

Amicus Therapeutics made a groundbreaking announcement on Thursday, revealing the FDA’s approval of its transformative two-component therapy, Pombiliti + Opfolda 65-mg capsules. This approval marks a significant milestone in the treatment of adults diagnosed with Pompe disease, an exceedingly rare and life-threatening inherited lysosomal disorder.

Pompe disease, often considered a silent but perilous adversary, is brought about by the scarcity of the enzyme acid alpha-glucosidase (GAA). In the absence of adequate GAA levels, glycogen accumulates within the lysosomes of muscle cells, wreaking havoc and causing muscle damage. The disease spectrum ranges from debilitating skeletal muscle weakness to progressively insidious respiratory complications, such as breathing difficulties.

At the heart of this groundbreaking therapy is Pombiliti, a recombinant human GAA enzyme (rhGAA) engineered with a strategic infusion of bis-M6P (Mannose 6-Phosphate). This infusion augments its uptake into muscle cells, where it becomes activated and takes on the formidable task of glycogen breakdown. Its stalwart partner, Opfolda, serves as an enzyme stabilizer, ensuring the stability of enzymes within the bloodstream.

John Crowley, Executive Chairman of Amicus, exulted in the FDA’s approval of Pombiliti + Opfolda, hailing it as a testament to the indomitable forces of science, medicine, and unwavering commitment to enhancing the lives of Pompe disease patients. He described the approval as a shining example of the Amicus spirit, embodying their passion and resilience, and a profound leap forward for the Pompe community.

This milestone achievement by Amicus was founded on data gleaned from the rigorous Phase III PROPEL trial. The results spoke volumes, demonstrating notable enhancements in patients undergoing a six-minute walk test when compared to those on standard treatment regimens.

Amicus Therapeutics faced its fair share of hurdles on the path to FDA approval. Initially, the regulator extended target action dates in May 2023 to allow for a more comprehensive review of the company’s submitted data.

However, this delay also provided Amicus with a crucial opportunity to complete pre-license approval inspections at the manufacturing site in China, a pivotal step toward securing approval.

Tahseen Mozaffar, an investigator for the PROPEL study and the director of the UC Irvine ALS and Neuromuscular Center, hailed this two-component therapy as a groundbreaking achievement. He emphasized its significance as a vital new treatment option for adults grappling with late-onset Pompe disease, especially for those who have not experienced improvement with current therapies.

This transformative therapy is poised for immediate launch in the United States, further solidifying its global presence as it has already gained approval for use in the European Union and the United Kingdom for adults contending with late-onset Pompe disease. The announced U.S. list price for patients weighing 70 kilograms stands at approximately $650,000, reaffirming Amicus’s commitment to pioneering groundbreaking treatments.

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