Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease - PubMed
4 hours ago
- #miglustat
- #Pompe disease
- #enzyme replacement therapy
- Miglustat is a first-in-class enzyme stabilizer used with cipaglucosidase alfa for treating late-onset Pompe disease (LOPD).
- LOPD is caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to glycogen accumulation in muscles.
- Enzyme replacement therapy (ERT) with alglucosidase alfa was the first treatment for Pompe disease but has limitations like enzyme instability in blood.
- Cipaglucosidase alfa, a second-generation ERT, is enhanced with miglustat to improve stability and uptake in target tissues.
- Clinical studies show miglustat improves cipaglucosidase alfa's efficacy, leading to better functional outcomes and reduced glycogen buildup.
- Miglustat is administered every two weeks at lower doses for LOPD, resulting in fewer gastrointestinal side effects compared to higher doses used in other diseases.
- The combination therapy has shown promise in preclinical and clinical trials, improving biomarkers and muscle function in patients.