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Pompe disease: options by country

Sourced options by country plus visit-prep questions for Pompe disease. Each line links to its regulator, HTA, or guideline source. This page maps options; it does not recommend or rank them.

Options mappedRare diseaseLast checked June 2026

What this page does

Maps options by country

It maps sourced options by country alongside diagnosis wording, stage, test results, specialists, and trial-search terms.

What it does not do

Does not choose treatment

It does not rank treatments, recommend a choice, or decide clinical fit.

Where it comes from

Built on trusted sources

Every option links to a trusted regulator, HTA, or guideline source, and the list grows as new sources pass verification.

Information to gather before the next visit

  • Is this infantile-onset or late-onset Pompe disease, and what GAA testing supports the diagnosis?
  • Is the option first ERT, a switch in ERT, or Pombiliti/Opfolda after inadequate improvement on current ERT?
  • What cardiac, respiratory, antibody, CRIM, pregnancy, or renal monitoring is needed?
  • Is the treatment route EU authorization, NHS/NICE access, or local national reimbursement?

Trial-search terms to discuss

Pompe disease clinical trial

Options by country

Treatments by country

Regulatory and access status by country, from official sources. It shows what exists and where — not a recommendation.

United States

  • Alglucosidase alfa (Lumizyme); avalglucosidase alfa-ngpt (Nexviazyme); cipaglucosidase alfa-atga (Pombiliti) plus miglustat (Opfolda)[1]FDA-approvedGAA deficiency; GAA gene mutations in registry/trial criteria; Lumizyme broad Pompe disease ERT; Nexviazyme late-onset Pompe disease age 1+; Pombiliti/Opfolda adult late-onset Pompe disease after insufficient improvement on current ERT. · Lumizyme and Nexviazyme labels include hypersensitivity/infusion reaction and cardiorespiratory monitoring precautions. Pombiliti must be used with Opfolda, and Opfolda must be timed with Pombiliti; pregnancy and renal considerations are noted in labeling. Confidence/conflicts: High for U.S. FDA-label claims. No payer access or comparative benefit is inferred.
  • Alglucosidase alfa (Lumizyme); avalglucosidase alfa-ngpt (Nexviazyme); cipaglucosidase alfa-atga (Pombiliti) plus miglustat (Opfolda)[1]FDA-approvedGAA deficiency; GAA gene mutations in registry/trial criteria; Lumizyme broad Pompe disease ERT; Nexviazyme late-onset Pompe disease age 1+; Pombiliti/Opfolda adult late-onset Pompe disease after insufficient improvement on current ERT. · Lumizyme and Nexviazyme labels include hypersensitivity/infusion reaction and cardiorespiratory monitoring precautions. Pombiliti must be used with Opfolda, and Opfolda must be timed with Pombiliti; pregnancy and renal considerations are noted in labeling. Confidence/conflicts: High for U.S. FDA-label claims. No payer access or comparative benefit is inferred.
  • Alglucosidase alfa (Lumizyme); avalglucosidase alfa-ngpt (Nexviazyme); cipaglucosidase alfa-atga (Pombiliti) plus miglustat (Opfolda)[1]FDA-approvedGAA deficiency; GAA gene mutations in registry/trial criteria; Lumizyme broad Pompe disease ERT; Nexviazyme late-onset Pompe disease age 1+; Pombiliti/Opfolda adult late-onset Pompe disease after insufficient improvement on current ERT. · Lumizyme and Nexviazyme labels include hypersensitivity/infusion reaction and cardiorespiratory monitoring precautions. Pombiliti must be used with Opfolda, and Opfolda must be timed with Pombiliti; pregnancy and renal considerations are noted in labeling. Confidence/conflicts: High for U.S. FDA-label claims. No payer access or comparative benefit is inferred.

European Union

  • Avalglucosidase alfa (Nexviadyme); cipaglucosidase alfa (Pombiliti) plus miglustat (Opfolda)[2]EMA authorisedAcid alpha-glucosidase (GAA) deficiency; Long-term ERT for Pompe disease; adult late-onset Pompe disease Pombiliti/Opfolda pathway. · EMA authorization is EU-wide but member-state reimbursement/access differs. NICE is England-specific and reuse-restricted/link-only. France/Germany reimbursement was not verified in this cell. Confidence/conflicts: High for EMA/NICE statements; national reimbursement gaps remain.
  • Avalglucosidase alfa (Nexviadyme); cipaglucosidase alfa (Pombiliti) plus miglustat (Opfolda)[2]EMA authorisedAcid alpha-glucosidase (GAA) deficiency; Long-term ERT for Pompe disease; adult late-onset Pompe disease Pombiliti/Opfolda pathway. · EMA authorization is EU-wide but member-state reimbursement/access differs. NICE is England-specific and reuse-restricted/link-only. France/Germany reimbursement was not verified in this cell. Confidence/conflicts: High for EMA/NICE statements; national reimbursement gaps remain.

Japan

  • avalglucosidase alfa, genetically recombinant (Nexviazyme)[3]PMDA-approved (Japan)acid alpha-glucosidase (GAA) deficiency context; treatment of Pompe disease; the fetched PMDA list does not limit the indication to infantile- or late-onset disease. · The PMDA deliberation report explains Pompe disease is an autosomal recessive lysosomal disorder due to GAA deficiency and notes prior Japanese alglucosidase approval. This entry does not establish reimbursement, switching criteria from Myozyme, CRIM/immune-tolerance practice, ventilatory/cardiology supportive care, or full current package insert details. Confidence/conflicts: High for Japanese avalglucosidase/Nexviazyme approval and Pompe indication; no conflict identified. Full current label and reimbursement remain gaps.
  • cipaglucosidase alfa (Pombiliti) plus miglustat (Opfolda)[4]PMDA-approved (Japan)acid alpha-glucosidase (GAA) deficiency context; late-onset phenotype; combination therapy for late-onset Pompe disease. · This entry captures PMDA approval/listing evidence, not full package-insert details. It does not establish reimbursement, whether prior ERT exposure is required or excluded, respiratory/motor monitoring expectations, pregnancy considerations, or specialist-center availability. Pombiliti and Opfolda are documented as combination therapy and should not be represented as standalone options from these sources. Confidence/conflicts: High for Japanese Pombiliti/Opfolda approval and late-onset Pompe indication; no conflict identified. Full labels and reimbursement remain gaps.

Australia

  • alglucosidase alfa (Myozyme); avalglucosidase alfa (Nexviazyme)[5]Approvedacid alpha-glucosidase (GAA) deficiency / Pompe disease; Australian LSDP-subsidised enzyme replacement therapy for eligible infantile-onset or late-onset Pompe disease. · LSDP access requires initial and ongoing eligibility criteria and annual reapplication. Home administration for avalglucosidase alfa may be considered only after safety and tolerability are established in the clinical setting. Confidence/conflicts: High for Australian LSDP Myozyme/Nexviazyme access; no conflict identified. Availability/reimbursement outside the approving regulator not established.
  • alglucosidase alfa (Myozyme); avalglucosidase alfa (Nexviazyme)[5]Approvedacid alpha-glucosidase (GAA) deficiency / Pompe disease; Australian LSDP-subsidised enzyme replacement therapy for eligible infantile-onset or late-onset Pompe disease. · LSDP access requires initial and ongoing eligibility criteria and annual reapplication. Home administration for avalglucosidase alfa may be considered only after safety and tolerability are established in the clinical setting. Confidence/conflicts: High for Australian LSDP Myozyme/Nexviazyme access; no conflict identified. Availability/reimbursement outside the approving regulator not established.
  • avalglucosidase alfa (Nexviazyme)[6]TGA-registered (Australia)acid alpha-glucosidase deficiency; long-term enzyme replacement therapy for Pompe disease age one year and older; Australian LSDP access for eligible patients. · The TGA decision summary verifies approval but not individual access. LSDP guideline limits and reapplication criteria apply. Confidence/conflicts: High for Australian Nexviazyme approval and LSDP context; no conflict identified. Availability/reimbursement outside the approving regulator not established.
  • avalglucosidase alfa (Nexviazyme)[6]TGA-registered (Australia)acid alpha-glucosidase deficiency; long-term enzyme replacement therapy for Pompe disease age one year and older; Australian LSDP access for eligible patients. · The TGA decision summary verifies approval but not individual access. LSDP guideline limits and reapplication criteria apply. Confidence/conflicts: High for Australian Nexviazyme approval and LSDP context; no conflict identified. Availability/reimbursement outside the approving regulator not established.
  • cipaglucosidase alfa (Pombiliti) plus miglustat 65 mg (Opfolda)[7]TGA-registered (Australia)acid alpha-glucosidase (GAA) deficiency; adult late-onset Pompe disease combination ERT plus enzyme stabiliser in Australia. · The AusPAR verifies TGA registration/indication but not PBS or LSDP funding. Pregnancy category D and contraception/pregnancy cautions are described in the AusPAR. Confidence/conflicts: High for Australian regulatory indication; funding status remains source-pending. Availability/reimbursement outside the approving regulator not established.
  • cipaglucosidase alfa (Pombiliti) plus miglustat 65 mg (Opfolda)[7]TGA-registered (Australia)acid alpha-glucosidase (GAA) deficiency; adult late-onset Pompe disease combination ERT plus enzyme stabiliser in Australia. · The AusPAR verifies TGA registration/indication but not PBS or LSDP funding. Pregnancy category D and contraception/pregnancy cautions are described in the AusPAR. Confidence/conflicts: High for Australian regulatory indication; funding status remains source-pending. Availability/reimbursement outside the approving regulator not established.

Thailand

  • alglucosidase alfa (Myozyme)[8]Approvedconfirmed acid alpha-glucosidase (GAA) deficiency; long-term enzyme replacement therapy for confirmed Pompe disease in adult and pediatric patients. · The label states treatment should be supervised by a physician experienced in Pompe disease or other inherited metabolic or neuromuscular diseases. It includes severe hypersensitivity/anaphylaxis and infusion-associated-reaction precautions, routine response evaluation across clinical manifestations, and does not establish Thai reimbursement or stock availability. Confidence/conflicts: High for Thai Myozyme label and authorization details; no conflict identified, but reimbursement and care-pathway details remain unresolved.
  • avalglucosidase alfa (Nexviazyme)[9]Approvedconfirmed acid alpha-glucosidase (GAA) deficiency; infantile-onset versus late-onset context relevant; long-term enzyme replacement therapy for Pompe disease; source includes dose-modification context for infantile-onset Pompe disease patients with insufficient cardiac, respiratory, and/or motor response while receiving the standard dose. · The label states treatment should be supervised by a physician experienced in Pompe disease or other inherited metabolic or neuromuscular diseases. It notes no established data for patients 6 months of age and younger, hypersensitivity/anaphylaxis and fluid-overload considerations, and does not establish Thai reimbursement or center availability. Confidence/conflicts: High for Thai Nexviazyme label and authorization details; no conflict identified, but reimbursement and switching/access pathways remain unresolved.

Canada

  • avalglucosidase alfa (Nexviazyme)[10]Approvedacid alpha-glucosidase deficiency; long-term ERT for late-onset Pompe disease in Canada. · The product monograph excludes infantile-onset Pompe disease from the indication. CADTH review informs payer decisions but provincial implementation remains separate. Confidence/conflicts: High for Canadian label; medium-high for payer context because implementation varies by public plan.
  • avalglucosidase alfa (Nexviazyme)[10]Approvedacid alpha-glucosidase deficiency; long-term ERT for late-onset Pompe disease in Canada. · The product monograph excludes infantile-onset Pompe disease from the indication. CADTH review informs payer decisions but provincial implementation remains separate. Confidence/conflicts: High for Canadian label; medium-high for payer context because implementation varies by public plan.
  • cipaglucosidase alfa (Pombiliti) plus miglustat 65 mg (Opfolda)[11]Health Canada approvedacid alpha-glucosidase (GAA) deficiency; adult late-onset Pompe disease weighing at least 40 kg; Pombiliti plus Opfolda combination therapy. · The product monograph lists serious warnings for hypersensitivity/anaphylaxis and infusion-associated reactions, contraindicates use with Opfolda in pregnancy, and states both medicinal products should be continued or discontinued together. Reimbursement implementation was not established from these sources. Confidence/conflicts: High for Canadian approval and label constraints; reimbursement status remains source-pending.
  • cipaglucosidase alfa (Pombiliti) plus miglustat 65 mg (Opfolda)[11]Health Canada approvedacid alpha-glucosidase (GAA) deficiency; adult late-onset Pompe disease weighing at least 40 kg; Pombiliti plus Opfolda combination therapy. · The product monograph lists serious warnings for hypersensitivity/anaphylaxis and infusion-associated reactions, contraindicates use with Opfolda in pregnancy, and states both medicinal products should be continued or discontinued together. Reimbursement implementation was not established from these sources. Confidence/conflicts: High for Canadian approval and label constraints; reimbursement status remains source-pending.

Sources

  1. U.S. Food and Drug Administration — official drug label · official drug label
  2. European Medicines Agency (EMA) — regulator EPAR · regulator EPAR
  3. Pharmaceuticals and Medical Devices Agency (PMDA) — regulator deliberation report PDF · regulator deliberation report PDF
  4. Pharmaceuticals and Medical Devices Agency (PMDA) — approved drugs list PDF · approved drugs list PDF
  5. Australian Government Department of Health, Disability and Ageing — LSDP resource collection · LSDP resource collection
  6. Therapeutic Goods Administration (TGA) — Australian prescription medicine decision summary · Australian prescription medicine decision summary
  7. Therapeutic Goods Administration (TGA) — Australian Public Assessment Report · Australian Public Assessment Report
  8. Thai National Drug Information / Thai FDA-MOPH — SmPC PDF / regulator drug-information repository · SmPC PDF / regulator drug-information repository
  9. Thai National Drug Information / Thai FDA-MOPH — SmPC PDF / regulator drug-information repository · SmPC PDF / regulator drug-information repository
  10. Sanofi-aventis Canada / Health Canada product monograph — official product monograph · official product monograph
  11. Health Canada Drug and Health Products Portal — Summary Basis of Decision · Summary Basis of Decision

This is official regulatory and access status only — not medical advice, not a recommendation, and not a statement about eligibility. Whether any option fits depends on your situation and your oncology team. Status changes over time; confirm the current position with the linked source. Last checked 2026-06-12.

Beyond approved care

In clinical trials & emerging options

Options that are not — or not yet — an approved standard where you live: studies, clinical trials, off-label use, and early evidence that your own oncologist may not raise. Each is labeled by how strong the evidence is. A listing here is information to research and discuss with your team; it does not mean a treatment is proven, safe for you, or available today.

In clinical trials

  • Alglucosidase alfa (Myozyme/ALGLU); avalglucosidase alfa; cipaglucosidase alfa plus miglustat; alglucosidase alfa comparatorClinical trialClinical trialReported in a clinical trialJapan · GAA deficiency / Pompe disease (glycogen storage disease type II); Japan ERT approval context; late-onset Pompe disease enzyme-replacement comparator and cipaglucosidase/miglustat studies; pediatric late-onset Pompe investigational study. · PMDA source should be supplemented with current package inserts and reimbursement. Trial participation does not establish local approval in Korea, Russia, France, Germany, or the UK. Confidence/conflicts: High for PMDA historical alglucosidase context and registry geography; medium for current local access outside Japan. Pharmaceuticals and Medical Devices Agency (PMDA) — regulator review report
  • Alglucosidase alfa (Myozyme/ALGLU); avalglucosidase alfa; cipaglucosidase alfa plus miglustat; alglucosidase alfa comparatorClinical trialClinical trialReported in a clinical trialJapan · GAA deficiency / Pompe disease (glycogen storage disease type II); Japan ERT approval context; late-onset Pompe disease enzyme-replacement comparator and cipaglucosidase/miglustat studies; pediatric late-onset Pompe investigational study. · PMDA source should be supplemented with current package inserts and reimbursement. Trial participation does not establish local approval in Korea, Russia, France, Germany, or the UK. Confidence/conflicts: High for PMDA historical alglucosidase context and registry geography; medium for current local access outside Japan. Pharmaceuticals and Medical Devices Agency (PMDA) — regulator review report
  • Alglucosidase alfa (Myozyme/ALGLU); avalglucosidase alfa; cipaglucosidase alfa plus miglustat; alglucosidase alfa comparatorClinical trialClinical trialReported in a clinical trialJapan · GAA deficiency / Pompe disease (glycogen storage disease type II); Japan ERT approval context; late-onset Pompe disease enzyme-replacement comparator and cipaglucosidase/miglustat studies; pediatric late-onset Pompe investigational study. · PMDA source should be supplemented with current package inserts and reimbursement. Trial participation does not establish local approval in Korea, Russia, France, Germany, or the UK. Confidence/conflicts: High for PMDA historical alglucosidase context and registry geography; medium for current local access outside Japan. Pharmaceuticals and Medical Devices Agency (PMDA) — regulator review report
  • GC301 AAV gene therapy; CRG003/BBM-G102 gene therapy; alglucosidase alfa (Myozyme)Clinical trial · NCT05567627Clinical trialTrial only (registry)China · GAA deficiency; GAA gene mutations in trial criteria; Infantile-onset Pompe disease gene therapy study under 6 months; late-onset Pompe disease gene therapy study; Chinese alglucosidase alfa efficacy/safety in infantile and late-onset contexts. · GC301 and CRG003 are investigational in fetched records. Alglucosidase alfa registry cells show China studies, not current NMPA labeling or reimbursement. Status includes unknown, recruiting, not-yet-recruiting, and completed. Confidence/conflicts: High for China trial-study cells; NMPA access remains source-pending. ClinicalTrials.gov — clinical-trial registry
  • GC301 AAV gene therapy; CRG003/BBM-G102 gene therapy; alglucosidase alfa (Myozyme)Clinical trial · NCT05567627Clinical trialTrial only (registry)China · GAA deficiency; GAA gene mutations in trial criteria; Infantile-onset Pompe disease gene therapy study under 6 months; late-onset Pompe disease gene therapy study; Chinese alglucosidase alfa efficacy/safety in infantile and late-onset contexts. · GC301 and CRG003 are investigational in fetched records. Alglucosidase alfa registry cells show China studies, not current NMPA labeling or reimbursement. Status includes unknown, recruiting, not-yet-recruiting, and completed. Confidence/conflicts: High for China trial-study cells; NMPA access remains source-pending. ClinicalTrials.gov — clinical-trial registry
  • GC301 AAV gene therapy; CRG003/BBM-G102 gene therapy; alglucosidase alfa (Myozyme)Clinical trial · NCT05567627Clinical trialTrial only (registry)China · GAA deficiency; GAA gene mutations in trial criteria; Infantile-onset Pompe disease gene therapy study under 6 months; late-onset Pompe disease gene therapy study; Chinese alglucosidase alfa efficacy/safety in infantile and late-onset contexts. · GC301 and CRG003 are investigational in fetched records. Alglucosidase alfa registry cells show China studies, not current NMPA labeling or reimbursement. Status includes unknown, recruiting, not-yet-recruiting, and completed. Confidence/conflicts: High for China trial-study cells; NMPA access remains source-pending. ClinicalTrials.gov — clinical-trial registry
  • Alglucosidase alfa; avalglucosidase alfa; SPK-3006; alglucosidase alfa safety sub-registry; Pompe Registry observationClinical trial · NCT00231400Clinical trialTrial only (registry)Thailand · GAA deficiency and/or GAA mutations in registry criteria; Global registry observation treated and untreated patients; Russia alglucosidase pharmacokinetic study; late-onset Pompe gene transfer; infantile-onset routine alglucosidase observation; U.S. expanded/temporary access historical record. · Registry participation does not equal Thai FDA or Russian approval. SPK-3006 and intramuscular AAV9 are investigational. Historical temporary-access records should not be treated as current access. Confidence/conflicts: High for registry/trial geography; low for Thailand/Russia routine availability until official country sources are verified. ClinicalTrials.gov — observational registry
  • Alglucosidase alfa; avalglucosidase alfa; SPK-3006; alglucosidase alfa safety sub-registry; Pompe Registry observationClinical trial · NCT00231400Clinical trialTrial only (registry)Thailand · GAA deficiency and/or GAA mutations in registry criteria; Global registry observation treated and untreated patients; Russia alglucosidase pharmacokinetic study; late-onset Pompe gene transfer; infantile-onset routine alglucosidase observation; U.S. expanded/temporary access historical record. · Registry participation does not equal Thai FDA or Russian approval. SPK-3006 and intramuscular AAV9 are investigational. Historical temporary-access records should not be treated as current access. Confidence/conflicts: High for registry/trial geography; low for Thailand/Russia routine availability until official country sources are verified. ClinicalTrials.gov — observational registry
  • Alglucosidase alfa; avalglucosidase alfa; SPK-3006; alglucosidase alfa safety sub-registry; Pompe Registry observationClinical trial · NCT00231400Clinical trialTrial only (registry)Thailand · GAA deficiency and/or GAA mutations in registry criteria; Global registry observation treated and untreated patients; Russia alglucosidase pharmacokinetic study; late-onset Pompe gene transfer; infantile-onset routine alglucosidase observation; U.S. expanded/temporary access historical record. · Registry participation does not equal Thai FDA or Russian approval. SPK-3006 and intramuscular AAV9 are investigational. Historical temporary-access records should not be treated as current access. Confidence/conflicts: High for registry/trial geography; low for Thailand/Russia routine availability until official country sources are verified. ClinicalTrials.gov — observational registry
  • Alglucosidase alfa; avalglucosidase alfa; SPK-3006; alglucosidase alfa safety sub-registry; Pompe Registry observationClinical trial · NCT00231400Clinical trialTrial only (registry)Thailand · GAA deficiency and/or GAA mutations in registry criteria; Global registry observation treated and untreated patients; Russia alglucosidase pharmacokinetic study; late-onset Pompe gene transfer; infantile-onset routine alglucosidase observation; U.S. expanded/temporary access historical record. · Registry participation does not equal Thai FDA or Russian approval. SPK-3006 and intramuscular AAV9 are investigational. Historical temporary-access records should not be treated as current access. Confidence/conflicts: High for registry/trial geography; low for Thailand/Russia routine availability until official country sources are verified. ClinicalTrials.gov — observational registry

A clinical-trial listing or early report shows an option is being studied — not that it works, that it is safe for any one person, or that a site is enrolling today. Whether any of these fits is a conversation for your oncology team and the trial team. Last checked 2026-06-12.