Pombiliti with Zavesca

Pharmaceutical company: Amicus Therapeutics

Cells need energy to function properly. We get energy from food, and it is stored within the body as glycogen. A molecule in the body, called alpha-glucosidase breaks down glycogen to release glucose, providing energy for cells. In people with late-onset Pompe disease, alpha-glucosidase is missing. This leads to a build-up of glycogen, reducing the amount of energy cells get and causing muscle weakness.

Pombiliti mimics alpha-glucosidase, reducing the build-up of glycogen by breaking it down to release glucose. Zavesca is used alongside cipaglucosidase as it helps cells affected by late-onset Pompe disease absorb cipaglucosidase more easily.

Cipaglucosidase alfa is administered slowly into the bloodsteam (intravenous infusion). Miglustat comes as a capsule and is swallowed an hour before administration of cipaglucosidase alfa.

Pombiliti with Zavesca has been recommended as a treatment option for Pompe disease in the UK and is available on the NHS. Please consult your clinical team for more information.

England, Wales and Northern Ireland

Read the full National Institute for Health and Care Excellence (NICE) guidance.

Scotland

Read the full Scottish Medicines Consortium (SMC) guidance.

We are proud to have played a key role in making sure Pombiliti with Zavesca is available for adults with late-onset Pompe disease. Throughout the assessment processes, we made sure the experience and views of the Pompe disease community were heard.

Evidence from the phase 3 PROPEL clinical trial was used in the UK assessment of Pombiliti with Zavesca. In the trial, participants were randomly assigned to receive the treatment (85 participants) or a similar treatment for Pompe disease (Myozyme, also known as alglucosidase alfa) with a placebo (dummy drug) (40 participants). The trial found Pombiliti with Zavesca was safe.

After 52 weeks, participants who received Pombiliti with Zavesca showed improvements in measurements of walking when compared to participants who received Myozyme and placebo. However, the researchers could not confirm that the improvements in walking were not due to chance. Researchers refer to this as ‘not statistically significant’.

The results of a measurement of breathing (forced vital capacity (FVC%) predicted) got worse in all participants. However, the decline in FVC% predicted was statistically significantly smaller in those who received Pombiliti with Zavesca compared to those who received Myozyme and placebo. This suggests short-term treatment with Pombiliti with Zavesca is likely to be more beneficial, for some symptoms, than treatment with Myozyme.

Data was collected to monitor the long-term effects of Pombiliti with Zavesca. After 48 months, improvements in walking and breathing measurements were reported. However, this data was not compared against a placebo, meaning its use in confirming any long-term benefits may be limited

Last updated: 18/02/2025