Therapeutic Options

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.

How is ERT administered?

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

Therapies under investigation

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.