Cipaglucosidase alfa is an enzyme replacement therapy that mimics the naturally occurring enzyme (alpha-glucosidase) which is lacking in late-onset Pompe disease. Miglustat is a medicine that helps the Cipaglucosidase alfa enzyme be absorbed more readily by the cells in your body that are affected by late-onset Pompe disease.
People with late-onset Pompe disease have low levels of an enzyme called alpha-glucosidase. This enzyme helps the body control levels of glycogen (a type of carbohydrate) within the cells. Glycogen provides the body with energy. However, in late-onset Pompe disease the levels of glycogen can get too high, causing a build-up of glycogen in the muscles of the body which prevents them from working properly.
Cipaglucosidase alfa is currently available in England through the Early Access to Medicines Scheme since June 2021. For more information on EAMS and accessing this treatment, please see here.
The treatment is currently being reviewed by NICE. MDUK took part in a NICE scoping appraisal in October 2021, ahead of which we liaised with other patient groups and with clinicians. We are awaiting next steps and aim to work in partnership with the Association of Glycogen Storage Diseases to submit the patient voice as part of any future consultation/appraisal. More information on NICE’s assessment of Cipaglucosidase alfa with miglustat, can be found here