FDA Approves New Pompe Therapy

The FDA has approved a two-component therapy — Pombiliti (cipaglucosidase alfa-atga) with Opfolda (miglustat) — to treat adults living with late-onset Pompe disease. It is indicated for those who are not improving on enzyme replacement therapy.

Late-onset Pompe disease is a rare, debilitating, and life-threatening disease that is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced levels of GAA lead to the accumulation of glycogen in muscle cells. Disease severity ranges across a spectrum, with skeletal muscle weakness and progressive respiratory involvement being the most common.

About 5,000 to 10,000 people have been diagnosed globally with Pompe. The majority of patients on current standard of care decline after about two years.

Developed by Amicus Therapeutics, Pombiliti is a recombinant human acid alpha-glucosidase (rhGAA) enzyme that is designed for increased uptake into muscle cells where it can help break down glycogen. Opfolda is designed to stabilize the enzyme in the blood. It is available immediately and will have an annual price of $650,000 for a patient weighing about 70 kg. This is a combined price for both products, company executives said. Company executives in an investor call that the price is below current enzyme replacement product, and executives said they will not raise price beyond the Consumer Price Index.

Bradley L. Campbell,

“By pricing this at a modest discount on current enzyme replacement therapies for adult patients, we believe we deliver the value of this two-part therapies to patients, to payers and to the healthcare community,” Bradley L. Campbell, president of CEO, said in the investor call.

The approval is based on data from the pivotal phase 3 PROPEL study, which compared Pombility and Opfolda with a alglucosidase alfa product.

(Editor’s note: In the United States, alglucosidase alfa is approved as Lumizyme and marketed by Sanofi. Sanofi also markets a second product for Pompe: Nexviazyme (avalglucosidase alfa-ngpt).

Patients taking Pombility and Opfolda who were previously were treated with an enzyme replacement showed a favorable change in the sitting forced vital capacity (the amount of air that forcibly exhale). In the six-minute walk test, patients taking the combination walked farther than comparator product.

“The Pompe community continues to face unmet need and limited treatment options. This two-component therapy is an important new treatment for those adults living with late-onset Pompe disease and not improving on current therapies. I am encouraged by the evidence generated over many years of clinical research studying this therapy for ERT-experienced patients living with late-onset Pompe disease,” Tahseen Mozaffar, M.D., director of the Division of Neuromuscular Diseases in the Department of Neurology at the School of Medicine at UC Irvine and Director of the UC Irvine ALS and Neuromuscular Center, as well as an investigator for the PROPEL study, said in a press release.

Pombiliti + Opfolda has also been approved for the treatment of adults with late-onset Pompe disease in the European Union and the United Kingdom.