Learn about the therapies available for Pompe disease, from enzyme replacement therapy to treatments under investigation.
ERT is currently the standard treatment for Pompe disease. It involves the intravenous administration of the enzyme that the body does not produce in sufficient quantities.
Several approved formulations exist:
• **Alglucosidase alfa** (Myozyme/Lumizyme): The first approved ERT
• **Avalglucosidase alfa** (Nexviazyme): A second-generation ERT with greater cellular uptake
• **Cipaglucosidase alfa + miglustat** (Pombiliti + Opfolda): Combination of ERT with an oral chaperone
Your medical team will determine which is most appropriate for your situation.
ERT is administered every two weeks by intravenous infusion, usually at a day hospital or specialized center. Each session lasts between 4 and 8 hours.
Important aspects:
• The first infusions are carried out under close monitoring
• Over time, some patients may receive the infusion at home
• Infusion reactions are possible but manageable with premedication
• Adherence to treatment is essential to obtain benefits
Research in Pompe disease is advancing continuously. Active areas include:
• **Gene therapy**: Aims to correct the underlying genetic defect, with several trials in clinical phases
• **Substrate reduction therapy**: Reduces glycogen accumulation
• **Pharmacological chaperones**: Improve the folding and function of residual enzyme
• **New ERT formulations**: With improved tissue penetration
Check the Clinical Trials section to learn about active studies you may be eligible to participate in.
Infantile-onset form (IOPD)
Late-onset form (LOPD)
Bibliography under review by the Foundation's clinical team.
Our support team is available 24/7 for emergencies or critical questions.
Contact nowKeep a record of your symptoms, infusions and clinical progress. This information can help you communicate better with your medical team.
Learn about the different stages of the care process and what to expect at each point.