ClinicalTrials.gov record NCT06575829

Treatment Frequency Reduction in Pompe Disease

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Open Label, Single-center Pilot Study to Investigate Alglucosidase Alfa (20 mg/kg) Frequency Reduction From 2 to 4 Weeks in a Subgroup of Elderly Patients With Late-onset Pompe Disease (TRIPOD-Study)

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.The registry record was last updated on Aug 28, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhasePhase 4A study of a treatment that is already approved, to learn more about its long-term effects, safety or use in everyday practice.
Age50 years old and older
SexAll
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This open-label Phase 4 pilot study gives eligible late‑onset Pompe patients alglucosidase alfa 20 mg/kg every 4 weeks for 9 months, with monitoring every 3 months. After 9 months investigators decide for each patient whether to stop, continue, or return to the standard every‑2‑week dosing; all participants are followed for a total of 21 months.

What it is studying. Whether reducing alglucosidase alfa infusions from every 2 weeks to every 4 weeks is safe and does not lead to increased disease progression in a selected group of late‑onset Pompe patients.

What the researchers hope to learn. To collect data on safety, muscle and lung function, patient-reported function, adverse events, and biomarkers when infusion frequency is reduced; to assess whether reduced-frequency dosing or discontinuation is feasible in this patient group.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

The aim of this study is to assess if dosing frequency reduction of alglucosidase alfa 20 mg/kg once every 2 weeks to once every 4 weeks is safe and does not lead to increased progression of disease in a selected group of patients with late-onset Pompe disease.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug
  • Algucosidase alfa 20 mg/kg once every 4 weeks instead of once every 2 weeks

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • LOPD (confirmed diagnosis: enzyme deficiency in any tissue source and/or 2 confirmed disease-causing variants in the GAA gene)
  • Age ≥50 years
  • Current treatment with alglucosidase alfa at a standard dose of 20 mg/kg once every 2 weeks for ≥4 years
  • Relatively stable clinical condition over the past year
  • Able to walk ≥150 m within 6 minutes (6MWT)
  • (Forced) vital capacity (FVC) in sitting position: >55% of expected value and in supine position: >45% of expected value
  • Willing and able to adhere to the study procedures

Exclusion criteria

  • Rapidly progressive muscle weakness
  • Severely limited muscle strength almost requiring/requiring daily wheelchair use
  • Requiring respiratory support (non-invasive/invasive ventilation) or being at high risk to require respiratory support (ventilation) due to further deterioration of current pulmonary function. Using continuous positive airway pressure (CPAP) support only for obstructive sleep apnea syndrome (OSAS) is permitted.
  • Comorbidities which are expected to influence the primary outcome measures within the next 2 years

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

All eligible patients with late-onset Pompe disease will be treated with alglucosidase alfa 20 mg/kg once every 4 weeks for 9 months. During the study, patients will be monitored once every 3 months. After 9 months of treatment with the extended interval, it will be determined for each patient whether it is considered safe to discontinue enzyme replacement therapy (ERT). The investigators consider it safe: 1] if the patient is stable compared to the year prior to reducing the ERT frequency, or, 2] if the patient previously deteriorated (slightly) despite standard ERT and this deterioration is not exaggerated by the alternative dosing regimen. If after 9 months there is no valid medical reason to switch back to standard dosing (once every 2 weeks) and the patient does not wish to discontinue treatment, the 4-week dosing regimen will be continued. If at any moment a patient shows an unexpectedly rapid decline in clinical outcome parameters (significantly higher than their own course at regular treatment dosage), treatment will be switched back to or be restarted with the standard dosing regimen of 20 mg/kg every 2 weeks. Both, patients who stop ERT after 9 months and those who continue with either the new or the previous dosing schedule, will be closely followed for an additional 12 months to be able to take action (e.g., switch to a standard dosing regimen or restart ERT) if a more rapid clinical deterioration occurs than expected, or to investigate if muscle and pulmonary function regain when standard dosage has been re-instituted after signs of clinical deterioration during the 4-week treatment interval. After the end of the study (21 months), patients will be carefully followed according to the standard frequency (once every 6 months). If a patient shows an unexpectedly rapid decline in clinical outcome parameters henceforth, treatment will be switched back to or be restarted with the standard dosing regimen of 20 mg/kg eow.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will switch to intravenous alglucosidase alfa 20 mg/kg every 4 weeks for 9 months, with infusion visits and vital-sign checks. They will be seen and tested about every 3 months over a total of 21 months; assessments include muscle strength testing (manual MRC and handheld dynamometry), the quick motor function test and 6‑minute walk test, pulmonary tests (sitting and supine FVC, MIP/MEP), patient questionnaires (R-PAct, SF-36), DEXA scans at baseline, 9 and 21 months, and periodic blood and urine samples for CK, antibodies, drug activity and urine Glc4. After 9 months the investigator and patient will decide whether to stop or continue enzyme replacement therapy; all participants are followed for an additional 12 months and treatment can be switched back to the standard every‑2‑week dosing if an unexpected clinical decline occurs. Adverse events and infusion-associated reactions will be monitored at each visit.

How the study is structured. Single-center, open-label (not masked), single-group interventional study. Participants who meet entry requirements will receive alglucosidase alfa 20 mg/kg by IV infusion every 4 weeks for 9 months with clinical monitoring every 3 months. After 9 months each patient’s treatment plan (stop ERT, continue the 4-week schedule, or return to every‑2‑week dosing) will be decided; participants are then followed for an additional 12 months (total 21 months).

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • No sites are listed on the registry yet. Where will the study take place?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Pompe disease

Clinical trials32 trials listed for Pompe diseaseEvery trial the registry lists for Pompe disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Pompe disease researchLatest monthly update: September 2026. Includes: Antibody effects. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Oct 1, 2024 (estimated)
Primary completion
Dec 31, 2026 (estimated)
Study completion
Dec 31, 2027 (estimated)
Target enrollment
10 participants (estimated)
Last updated on registry
Aug 28, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Erasmus Medical Center
Principal investigator
Ina Barzel, Coordinating investigator
Erasmus Medical Center

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites

Study locations have not been posted on ClinicalTrials.gov yet. This study is not yet recruiting, so sites may be added when recruitment begins. The central study contact above may be able to tell you about planned sites.

Terms used on this page · explanations by MedicalUpdates.ai

6MWT
A test of how far a person can walk on a flat surface in six minutes. It is used to measure stamina and to track change over time.
FVC
A breathing test that measures the total amount of air a person can blow out after a full breath in. It is often given as a percentage of what is expected for a person's age and size.
primary outcome
The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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