An observational study in Pompe Disease, sponsored by Amicus Therapeutics. Recruiting at 41 sites in 12 countries. Per ClinicalTrials.gov, last updated 2026-03-10.
Sponsored by Amicus Therapeutics (part of BioMarin Pharmaceutical) · Observational
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:
162 studies on the registry are indexed under Glycogen Storage Disease Type II; 34 are open to participants now.
This study's planned enrollment of 500 is above the median of 50 across 64 observational studies indexed under Glycogen Storage Disease Type II.
Browse Glycogen Storage Disease Type II studies →Amicus Therapeutics is the lead sponsor of 42 studies on the registry; 8 are open to participants now.
First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical.
Counted across the registry records on this site, refreshed daily.
The study population in this registry will consist of patients with a diagnosis of Pompe disease (LOPD or IOPD) based on documented deficiency of acid α-glucosidase (GAA) enzyme activity and/or GAA genotyping, regardless of time since diagnosis.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biological: Cipaglucosidase alfa · Drug: Miglustat
Biological: Alglucosidase alfa or Avalglucosidase alfa
Other: Untreated
Enzyme Replacement Therapy (ERT) via intravenous infusion
Also known as: ATB200, Pombiliti
Participants received ATB200 co-administered with AT2221 (Miglustat)
Also known as: AT2221, Opfolda
Patients prescribed other commercially available ERT after local regulatory approval
Also known as: Myozyme, Lumizyme, Nexviazyme, Nexviadyme
Patients who are not currently receiving any medical therapy for Pompe disease.
Evaluate long-term safety of Pompe disease treatments
Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients
Time frame: 5 years
Plan to share: No
No publications or documents are linked to this record.
Started Feb 2024 (actual). Primary completion is estimated for Dec 2034, 130 months after the start.
Of 29 observational studies under Glycogen Storage Disease Type II, half reached primary completion within 108 months of starting (the median), counting those still running; a quarter within 33. This study's planned 130 months is above that.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Glycogen Storage Disease Type II →