ClinicalTrials.gov record NCT06121011
A Global Prospective Observational Registry of Patients With Pompe Disease
A Global Prospective Observational Registry of Patients With Pompe Disease
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 global, prospective observational registry collects real-world health data on people with Pompe disease, including infantile-onset (IOPD) and late-onset (LOPD) forms. It includes people who are untreated or who are receiving approved enzyme-replacement therapies, and it excludes people currently receiving investigational therapy, compassionate use, or expanded access programs. Participants are followed and data are collected for up to 5 years.
What it is studying. The registry is collecting long-term safety data (adverse events and serious adverse events), measuring real-world effectiveness of approved Pompe disease treatments, assessing quality of life and patient-reported outcomes, and documenting the natural history of untreated Pompe disease.
What the researchers hope to learn. Evaluate the long-term safety of Pompe disease treatments by collecting data on the frequency of adverse events and serious adverse events; evaluate long-term real-world effectiveness of Pompe disease treatments; evaluate the long-term impact of treatments on quality of life and patient-reported outcomes; describe the natural history of untreated Pompe disease.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are:
- To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients
- To evaluate the long-term real-world effectiveness of Pompe disease treatments
- To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs)
- To describe the natural history of untreated 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
- Miglustat
- Biological
- Cipaglucosidase alfa
- Alglucosidase alfa or Avalglucosidase alfa
- Other
- Untreated
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping
Exclusion criteria
- Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
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.
This is an observational registry: participants' health and treatment information will be collected over time (target duration up to 5 years) to record safety events, treatment outcomes, and quality-of-life measures. Data may come from medical records, reports of adverse events/serious adverse events, and patient-reported questionnaires or assessments. The study does not state any study-specific invasive procedures; it records information about participants' existing care and outcomes rather than assigning treatments. Exact visit schedules or specific tests are not listed in the registry record.
How the study is structured. A global, multicenter, prospective observational registry (cohort). Participants continue their usual care; the study records the treatments they already receive (for example, cipaglucosidase alfa with miglustat, other approved enzyme-replacement therapies, or no therapy) and collects health and safety data over about five years.
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 Austria, Belgium, Denmark, Germany, Greece, Hungary, Italy, Netherlands, Poland, Slovenia, United Kingdom, United States. 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
- Feb 16, 2024
- Primary completion
- Dec 20, 2034 (estimated)
- Study completion
- Dec 20, 2034 (estimated)
- Target enrollment
- 500 participants (estimated)
- Last updated on registry
- Mar 10, 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
- Amicus Therapeutics
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.
- For Site 📞 609-662-2000 ✉ patientadvocacy@amicusrx.com
- For Patient 📞 609-662-2000 ✉ patientadvocacy@amicusrx.com
Participating sites (41)
- University of Arkansas Medical ScienceRecruiting
Little Rock, Arkansas, 72205 · United States
- University of California IrvineRecruiting
Irvine, California, 92697 · United States
- Wolfson Children's HospitalRecruiting
Jacksonville, Florida, 32207 · United States
- Emory UniversityRecruiting
Atlanta, Georgia, 30322 · United States
- Indiana University, IU Health Physicians NeurologyRecruiting
Indianapolis, Indiana, 46202 · United States
- Washington University School of MedicineRecruiting
St Louis, Missouri, 63110 · United States
- NYU Neurogenetics, NYU Langone Medical CenterRecruiting
New York, New York, 10017 · United States
- Duke University Medical CenterRecruiting
Durham, North Carolina, 27710 · United States
- University of Cincinnati Medical CenterRecruiting
Cincinnati, Ohio, 45219 · United States
- Cincinnati Children's HospitalRecruiting
Cincinnati, Ohio, 45229 · United States
Terms used on this page · explanations by MedicalUpdates.ai
- registry
- An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
- 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.
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- investigational
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- clinical trial
- A 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.
- compassionate use
- A way for some people with serious conditions to receive an investigational treatment outside a clinical trial, under specific rules. It is not itself a clinical trial and is not designed to test whether the treatment works.
- 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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