Pombiliti Plus Opfolda Approved for Late-Onset Pompe Disease

The U.S. Food and Drug Administration (FDA) on September 28, 2023 approved Pombiliti plus Opfolda; a combination of the drugs cipaglucosidase alfa (Pombiliti) and miglustat (Opfolda), for the treatment of Pompe disease.

Experts like Priya S. Kishnani, MD, medical director of the Y.T. says the drug which would become a substitute of enzyme replacement therapy in adults weighing at least 40 kilograms (88 pounds), would be a potential lifesaving therapy for Pompe disease, with only few limitations.

What is Pompe Disease?

Pompe disease is a rare genetic disorder that causes progressive weakness to the muscles of the heart and skeletons. It is also known medically as acid-maltase disease and glycogen storage disease II and is caused primarily by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). The body uses this enzyme to break down glycogen, a stored form of sugar used for energy. The elimination or reduction in this essential enzyme causes buildup of glycogen which damages the muscles of the skeleton and heart most seriously.

What is Pombiliti Plus Opfolda?

Pombiliti plus Opfolda is a drug manufactured by Amicus Therapeutics. It is a form of Enzyme Replacement Therapy, however it is intended for use in adults weighing at least 40 kilograms or those with what’s known as late-onset Pompe disease.

Although the drug isn’t a cure for Pompe disease, it is designed to manage symptoms and slow progression in some affected individuals. Because Pombiliti plus Opfolda contains two primary ingredients: cipaglucosidase alfa — a man-made form of the GAA enzyme — and miglustat, it is administered in two separate components: Cipaglucosidase alfa via infusion into the bloodstream, and miglustat which is taken in tablet form, by mouth.

From an article published in The Lancet Neurology, Pombiliti plus Opfolda is said to have enhanced walking ability and stabilized lung function in 85 adults whose treatment on drug has lasted for a year.

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