Amicus Therapeutics Launches Groundbreaking Pompe Disease Treatment
Amicus Therapeutics, has secured FDA approval for an innovative two-part therapy known as Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules. This therapeutic approach is specifically indicated for adults with late-onset Pompe disease (LOPD) who weigh ≥40 kg and are not experiencing improvement with their current enzyme replacement therapy (ERT).
Late-onset Pompe disease is an uncommon and life-threatening lysosomal disorder resulting from a deficiency of the enzyme acid alpha-glucosidase (GAA). This deficiency leads to an accumulation of glycogen in the lysosomes of muscle cells, causing damage to the muscles. The disease can manifest with various degrees of severity, often characterized by skeletal muscle weakness and progressive respiratory problems.
Pombiliti + Opfolda introduces a novel two-component therapy. Pombiliti, a recombinant human GAA enzyme (rhGAA), is designed to have high levels of bis-M6P (Mannose 6-Phosphate), promoting enhanced uptake into muscle cells. Once inside the cell, Pombiliti can be efficiently processed into its most active and mature form, effectively breaking down glycogen. Opfolda, on the other hand, is an enzyme stabilizer aimed at preserving the enzyme's activity in the bloodstream.
Pompe disease, stemming from a deficiency of the enzyme acid alpha-glucosidase (GAA), leads to the accumulation of glycogen in cells and gives rise to the clinical manifestations of the disease. Pombiliti + Opfolda comprises cipaglucosidase alfa-atga, a bis-M6P-enriched rhGAA for improved uptake through the M6P receptor and retention of enzyme activity, along with miglustat, an oral enzyme stabilizer designed to reduce enzyme activity loss in the blood.
