NCT06121011 · Amicus Therapeutics
A Global Prospective Observational Registry of Patients With Pompe Disease
What this study is about
This is a global, conducted at multiple hospitals, forward-looking, 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.
View original scientific description
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.
Interventions
BIOLOGICAL
Cipaglucosidase alfa
Enzyme Replacement Therapy (ERT) via intravenous infusion
DRUG
Miglustat
Participants received ATB200 co-administered with AT2221 (Miglustat)
BIOLOGICAL
Alglucosidase alfa or Avalglucosidase alfa
Patients prescribed other commercially available ERT after local regulatory approval
OTHER
Untreated
Patients who are not currently receiving any medical therapy for Pompe disease.
Primary outcome measures
Evaluate long-term safety of Pompe disease treatments
Time frame: 5 years
Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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)
Where
- Little Rock, Arkansas
- Irvine, California
- Jacksonville, Florida
- Atlanta, Georgia
- Indianapolis, Indiana
- St Louis, Missouri
- New York, New York
- Durham, North Carolina
- Cincinnati, Ohio
- Philadelphia, Pennsylvania
- Pittsburgh, Pennsylvania
- Salt Lake City, Utah
And 1 more location — see the full list below.
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Mar 10, 2026 · Source of record for eligibility and locations