Pombiliti and Opfolda: shaping the future of adult late-onset pompe disease: an editorial

Riaz, Rumaisa; Singh, Ajeet, Shakeel, Laiba; Fatima, Laveeza; Akilimali, Aymar

Pompe disease, also called glycogenosis type II or acid maltase deficiency, is an uncommon and persistent neuromuscular disorder characterized by the progressive weakening of skeletal and cardiac muscles1. While estimates of the disease’s incidence vary from 1:40 000 to 60 000 individuals, the reported incidence differs across populations2. This article focuses on POMBILITI (cipaglucosidase alfa) + OPFOLDA (miglustat), an FDA-approved dual-component therapy. It thoroughly examines the treatment’s pharmacokinetics, recommended dosage, mode of action, and the prospective advantages it may offer in addressing late-onset Pompe disease in adults. The objective is to provide valuable insights into this therapeutic approach, enhancing comprehension of its potential benefits for individuals grappling with the condition.

---