ClinicalTrials.gov record NCT07834320
Pompe Disease RWE Long-term Monitoring Program
Long Term Follow-up for Patients With Pompe Disease Undergoing Compassionate Use and Transitioning to Medication Listed Under the National Health Insurance.
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 prospective observational study follows people with Pompe disease who are receiving avalglucosidase alfa. It collects biomarker measurements, motor and respiratory function tests, and records adverse events over time. The study compares these measures to each participant's baseline (before starting avalglucosidase alfa and/or the year before switching).
What it is studying. The study is testing how clinical measures — primarily urinary Glc4/Hex4 levels, plus creatine kinase, motor function (Quick Motor Function Test), and respiratory function (forced vital capacity) — change over time in patients treated with avalglucosidase alfa, and it also collects and describes adverse events.
What the researchers hope to learn. To describe and analyze changes in urinary Glc4/Hex4 and other biomarkers, motor and respiratory function, and adverse events in Pompe patients treated with avalglucosidase alfa, and to compare these measures to baseline assessments.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
Evaluate short- and long-term biomarker, motor function, respiratory function and safety with avalglucosidase alfa in IOPD and LOPD patients who switched from other ERT.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Confirmed GAA enzyme deficiency (any tissue source) and/or confirmed 2 pathogenic GAA gene variants Pompe patient
Exclusion criteria
- Having severe allergic reaction to avalglucosidase alfa.
- Patient/parent/legal guardian is not agreeing to provide signed informed consent, and the patient, if <18 years of age
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
Clinical characteristics of Pompe patients receiving avalglucosidase alfa will be collected and analyzed. Adverse events occurring during avalglucosidase alfa treatment will be collected and described. Urinary Glc4/Hex4 is the primary endpoints for effectiveness analysis of avalglucosidase alfa. Other assessment items include creatine kinase, motor function (Quick Motor Function Test) and respiratory function (forced vital capacity). The evolution of those assessment items after avalglucosidase alfa treatment will be descriptively analyzed and compared to baseline assessments (i.e., the time before initiating avalglucosidase alfa and/or one-year preceding avalglucosidase alfa initiation) at the individual patient level depending on prior duration of ERT at time of avalglucosidase alfa switch.
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.
If you join, the study team will collect and analyze your clinical information and record any adverse events that happen while you are treated with avalglucosidase alfa. They will collect urine for Glc4/Hex4 (the study's primary effectiveness measure) and blood measurements such as creatine kinase. Motor function will be assessed annually with the Quick Motor Function Test (QMFT), and respiratory function will be measured by forced vital capacity; the record notes that pulmonary function data may be limited for infants. The study will compare these measures to baseline assessments (before starting avalglucosidase alfa and/or the year before switching) at the individual patient level.
How the study is structured. A prospective cohort (observational) study that follows patients receiving avalglucosidase alfa and collects clinical data over time. Key measurements include urinary Glc4/Hex4 (primary), serum creatine kinase, annual Quick Motor Function Test scores, forced vital capacity, and recording of adverse events, with outcomes tracked for up to three years as listed in the registry.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Taiwan. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Pompe disease
Important dates
- Study start
- Oct 1, 2023
- Primary completion
- Oct 1, 2036 (estimated)
- Study completion
- Oct 1, 2036 (estimated)
- Target enrollment
- 40 participants (estimated)
- Last updated on registry
- Sep 22, 2026
- 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
- National Taiwan University Hospital
- Principal investigator
- National Taiwan University Clinical Trial Center, Attending Physician
National Taiwan University Hospital
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.
- Yin-Hsiu Chien, MD, PhD 📞 +886223123456 ext. 271937 ✉ chienyh@ntu.edu.tw
Participating sites (1)
- National Taiwan University HospitalRecruiting
Taipei, Taiwan, 100 · Taiwan
- Yin-Hsiu Chien, MD, PhD · +886223123456 ext. 271937 · chienyh@ntu.edu.tw
Terms used on this page · explanations by MedicalUpdates.ai
- biomarker
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- legal guardian
- A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- 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.
- Adverse events
- Any unwanted medical problem that happens during a study, whether or not it was caused by the treatment. A 'serious' adverse event is one that meets specific criteria, such as causing death, being life-threatening, requiring or prolonging hospital admission, causing significant disability, or another medically important outcome.
- endpoints
- Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
- forced vital capacity
- 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.
- baseline
- Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
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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