Amicus Therapeutics wins FDA approval for breakthrough late-onset Pompe therapy

The U.S. Food and Drug Administration (FDA) has approved a therapy used for the treatment of late-onset Pompe disease (LOPD).

The two-component therapy is manufactured by Amicus Therapeutics and it consists of a combination of Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules, the company said in a press release.

“Today’s FDA approval of Pombiliti and Opfolda is a testament to the power of science, medicine, and our passionate determination to improve the lives of people living with Pompe disease,” said John F. Crowley, Executive Chairman of Amicus Therapeutics, Inc. He is Vice Chair of the Biotechnology Innovation Organization (BIO).

LOPD is a rare hereditary genetic disorder, caused by insufficient levels of the lysosomal enzyme acid alpha-glucosidase (GAA). This genetic myopathy results in “skeletal muscle weakness and severe respiratory impairment,” Science Direct explains.

The life-threatening disorder mainly affects cardiac and skeletal muscles, but since the GAA insufficiency is pervasive, LOPD is nowadays categorized as a multisystem disorder, according to a 2019 study.

To treat the progressive disease, Amicus has created a unique two-component therapy, consisting of Pombiliti which is “a recombinant human GAA enzyme (rhGAA)” and Opfolda, “an enzyme stabilizer designed to stabilize the enzyme in the blood,” the company explains in its statement.

The treatment is intended for adult LOPD patients who are weighing ≥40 kg, and not seeing any progress under their current enzyme replacement therapy (ERT).

“Amicus’ long-standing commitment to the Pompe community and rare disease research has led to the development of an important therapy for the Pompe community because patients will now have options,” said Tiffany House, President of the Acid Maltase Deficiency Association.

According to Amicus Therapeutics, the combination therapy will be launching immediately in the United States.

Pompe disease is personal for Crowley, who has two children diagnosed with the disease. A combat veteran of the U.S. Navy, he started the company Amicus Therapeutics to work to find treatments for them, as he recently testified on Capitol Hill.

About The Author

Scroll to Top