At a glance
- What the study gets you
- Health checks and monitoring — no treatment given
- Type of study
- Observational (no treatment given)
- Time in hospital
- In-person visits at study sites — visit count not specified by the sponsor
- Drug or intervention
- Cipaglucosidase alfa (biological), Miglustat (drug), Alglucosidase alfa or Avalglucosidase alfa (biological), Untreated (other)
- How long the study runs
- Study runs about 130 months (dates as stated)
- About the drug or intervention
- Cipaglucosidase alfa — biological: Enzyme Replacement Therapy (ERT) via intravenous infusion · Miglustat — drug: Participants received ATB200 co-administered with AT2221 (Miglustat) · Alglucosidase alfa or Avalglucosidase alfa — biological: Patients prescribed other commercially available ERT after local regulatory approval · Untreated — other: Patients who are not currently receiving any medical therapy for Pompe disease.
- Patient visit burden
- Not specified by the sponsor
In plain English
This is a global registry study for people with Pompe disease, a rare inherited condition. It is observational, which means researchers collect information about patients over time without giving them a new treatment as part of the study. It is run by Amicus Therapeutics.
Who can take part
- You have a diagnosis of late-onset Pompe disease (LOPD) or infantile-onset Pompe disease (IOPD), based on low levels of an enzyme called GAA and/or genetic testing of the GAA gene.
Who may not be able to
- You are currently taking an experimental (investigational) treatment for Pompe disease through a clinical trial, a compassionate use programme, or an expanded access programme.
What taking part involves
- • Not stated — ask the trial team
Time commitment: Not stated — ask the trial team
Plain-English summary (AI-generated) from registry data. Not eligibility advice — only the trial team can confirm whether you can take part. Use the eligibility checker to see how your health profile matches this trial.
- Type of study
- Observing health over time
- Ages
- Not specified
- Who
- All
- Number of participants
- 500
- Started
- 2024-02-16
- Last checked
- 2026-03
Plain English Summary
What is this study?
- • Testing a new treatment for pompe disease
- • Clinical study - 500 participants
- • 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)
Who can take part?
- • Adults
- • Diagnosed with pompe disease
Where?
- • Birmingham - Queen Elizabeth Hospital Birmingham
- • Cambridge - Cambridge University - Addenbrooke's Hospital
- • Cardiff - University Hospital of Wales, Cardiff
- • Cardiff - University Hospital of Wales
- • +4 more UK sites
This is a simplified summary. Always discuss with your doctor before making any decisions.
About This Trial
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
How this trial compares with your answers
Answer 2 more questions to improve match
What we know so far
Still need:
- • Tell us your age for better matching
- • Tell us your sex for better matching
Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.
Eligibility at a Glance
Key info
- Age: Not specified
- Who can join: All genders
What the study is looking for
- ✓Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping
Who cannot take part
- ✗Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate...
See the full criteria
Where Is This Study? (8 UK sites)
Queen Elizabeth Hospital Birmingham
Birmingham B15 2TH, United Kingdom
Cambridge University - Addenbrooke's Hospital
Cambridge CB20QQ, United Kingdom
University Hospital of Wales, Cardiff
Cardiff CF14 4XW, United Kingdom
University Hospital of Wales
Cardiff CF14 4XW, United Kingdom
National Hospital for Neurology and Neurosurgery
London WC1N 3BG, United Kingdom
Great Ormond Street Hospital NHS Foundation Trust
London WC1N 3JH, United Kingdom
Main Email: Research.Governance@gosh.nhs.uk
Research.Governance@gosh.nhs.uk0207 905 2700Royal Free Hospital NHS Foundation Trust
Manchester NW3 2QG, United Kingdom
Salford Royal NHS Foundation Trust
Salford M6 8HD, United Kingdom
How to Get in Touch
For Site
Sponsor contactCONTACT
For Patient
Sponsor contactCONTACT