Diagnostic confirmation may precede any treatment quote
When the diagnosis is incomplete, a center may first review or repeat biochemical and molecular testing before discussing ERT. Existing high-quality records can reduce unnecessary repetition.
- Metabolic or neuromuscular specialist consultation
- GAA enzyme testing when confirmation is needed
- GAA molecular genetics
- CK and other laboratory tests
- Respiratory-function assessment
- Cardiac testing when clinically indicated
ERT is a recurring rather than one-time cost
Myozyme and Nexviadyme are long-term intravenous enzyme-replacement therapies. Pombiliti is also an infusion and is used with Opfolda in adults with late-onset disease. A realistic quotation should state how many infusions are being priced, the dose basis, facility charges and whether medicines are included.
Body weight can materially change drug cost
Pompe ERT dosing is weight-based. The same treatment episode can therefore have substantially different medication cost in a child, a smaller adult and a larger adult. Send a current measured weight when asking for a treatment estimate.
Switching ERT is a clinical review, not just a price comparison
Changing between authorised Pompe therapies may require review of diagnosis, previous response, respiratory and motor trends, tolerability and the exact product indication. Budget for the specialist assessment and any additional baseline testing rather than requesting only a drug price.
Infusion monitoring can add facility and laboratory cost
Infusion-associated or hypersensitivity reactions can require slower administration, observation, premedication or additional monitoring. Ask whether the quoted infusion price includes these facility components and how unexpected reactions are billed.
Respiratory and functional follow-up are part of real long-term cost
A useful Pompe program tracks more than infusion attendance. Serial pulmonary-function testing, sleep or ventilation assessment, physiotherapy, motor-function measurement and assistive-device planning can create separate recurring costs.
International patients need a continuation plan before starting recurring care
Traveling to Germany every other week may be impractical. Ask whether the German visit is intended for second opinion and treatment planning, a limited initiation period, or long-term ERT. Clarify whether ongoing treatment can be transferred to a qualified center in the home country after the German review.
Send complete records before asking for an estimate
A center can quote more accurately when it understands the molecular diagnosis, previous ERT and current respiratory/functional status.
- GAA enzyme and genetic reports
- Current body weight
- Current and previous ERT product and dose
- Infusion dates and reaction history
- Pulmonary-function and sleep-study reports
- Motor-function and physiotherapy reports
- Cardiology records where relevant
- The exact request: diagnostic review, treatment start, switch review or recurring infusion care
Official sources
Last source-reviewed 2026-09-01. Cost procedures and published service fees can change, so confirm current terms directly with the provider before transferring money or booking travel.