Pompe DiseaseNCT06121011
A Global Prospective Observational Registry of Patients With Pompe Disease
An observational study of Pompe Disease, run by Amicus Therapeutics at 41 sites in 12 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pompe Disease
- What is being tested?
- Cipaglucosidase alfa, Miglustat and Alglucosidase alfa or Avalglucosidase alfa
- Type of treatment
- Injection or infusion
- How many people
- 500 participants
- Where
- 41 sitesin 12 countries
- Study dates
- 16 Feb 2024to 20 Dec 2034
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping
Who cannot join
- Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)
Trial locations and contacts
41 sites in 12 countries. Contact the study team or a site near you to ask about taking part.
41 sites in 12 countries
United States15 sites, 15 recruiting
- Recruiting
Emory University
Atlanta, Georgia, 30322
- Recruiting
University of Cincinnati Medical Center
Cincinnati, Ohio, 45219
- Recruiting
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
- Recruiting
Duke University Medical Center
Durham, North Carolina, 27710
- Recruiting
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fairfax, Virginia, 22030
- Recruiting
Indiana University, IU Health Physicians Neurology
Indianapolis, Indiana, 46202
- Recruiting
University of California Irvine
Irvine, California, 92697
- Recruiting
Wolfson Children's Hospital
Jacksonville, Florida, 32207
- Recruiting
University of Arkansas Medical Science
Little Rock, Arkansas, 72205
- Recruiting
NYU Neurogenetics, NYU Langone Medical Center
New York, New York, 10017
- Recruiting
University of Pennsylvania Perelman Center for Advanced Medicine
Philadelphia, Pennsylvania, 19104
- Recruiting
University of Pittsburgh
Pittsburgh, Pennsylvania, 15219
- Recruiting
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
- Recruiting
University of Utah
Salt Lake City, Utah, 84108
- Recruiting
Washington University School of Medicine
St Louis, Missouri, 63110
United Kingdom8 sites, 8 recruiting
- Recruiting
Queen Elizabeth Hospital Birmingham
Birmingham, B15 2TH
- Recruiting
Cambridge University - Addenbrooke's Hospital
Cambridge, CB20QQ
- Recruiting
University Hospital of Wales, Cardiff
Cardiff, CF14 4XW
- Recruiting
University Hospital of Wales
Cardiff, CF14 4XW
- Recruiting
National Hospital for Neurology and Neurosurgery
London, WC1N 3BG
- Recruiting
Great Ormond Street Hospital NHS Foundation Trust
London, WC1N 3JH
- Recruiting
Royal Free Hospital NHS Foundation Trust
Manchester, NW3 2QG
- Recruiting
Salford Royal NHS Foundation Trust
Salford, M6 8HD
Germany5 sites, 5 recruiting
- Recruiting
Ruhr-Universität Bochum im St. Josef-Hospital
Bochum, 44791
- Recruiting
SphinCS, Institute of Clinical Science in LSD
Höchheim, 265239
- Recruiting
Universitätsklinikum Gießen und Marburg GmhH
Marburg, 35043
- Recruiting
Universitat Munchen - Friedrich Baur Institut
München, 80336
- Not yet recruiting
Universitaetsklinikum Ulm
Ulm, 89081
Italy4 sites, 4 recruiting
- Not yet recruiting
Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari
Bari, 70124
- Not yet recruiting
Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases
Naples, 80131
- Not yet recruiting
Department of Neurosciences Rita Levi Montalcini, University of Torino
Torino, 10126
- Not yet recruiting
Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy
Udine, 33100
Hungary2 sites, 2 recruiting
- Not yet recruiting
University of Pécs
Pécs, 7622
- Not yet recruiting
University of Szeged, Szent-Györgyi Albert Clinical Center
Szeged, 6722
Austria1 site, 1 recruiting
- Not yet recruiting
Medizinische Universitaet Wien
Vienna, 1090
Belgium1 site, 1 recruiting
- Recruiting
Laboratory for Muscle Diseases and Neuropathies
Leuven, 3000
Denmark1 site, 1 recruiting
- Recruiting
Aarhus Universitets hospital
Aarhus C, 8000
Netherlands1 site, 1 recruiting
- Not yet recruiting
Dept of Pediatrics Erasmus MC - Sophia Children's Hospital
Rotterdam, 3015 GD
Poland1 site, 1 recruiting
- Not yet recruiting
entrum Medyczne Medyk
Rzeszów, 35-055
Slovenia1 site, 1 recruiting
- Not yet recruiting
University Medical Centre Ljubljana, Institute of Clinical Neurophysiology
Ljubljana, 1000
About this study
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
- Conditions
- Pompe Disease
- Being tested
- Cipaglucosidase alfa, Miglustat, Alglucosidase alfa or Avalglucosidase alfa, Untreated
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cipaglucosidase alfaBiological
Also called ATB200, Pombiliti
Enzyme Replacement Therapy (ERT) via intravenous infusion
MiglustatDrug
Also called AT2221, Opfolda
Participants received ATB200 co-administered with AT2221 (Miglustat)
Alglucosidase alfa or Avalglucosidase alfaBiological
Also called Myozyme, Lumizyme, Nexviazyme, Nexviadyme
Patients prescribed other commercially available ERT after local regulatory approval
UntreatedOther
Patients who are not currently receiving any medical therapy for Pompe disease.
| Study group | Role | What they receive |
|---|---|---|
| Cipaglucosidase alfa/Miglustat-treated patients | Not described Receives: Biological: Cipaglucosidase alfa; Drug: Miglustat | |
| Other Enyzme Replacement Therapy (ERT)-treated patients | Not described Receives: Biological: Alglucosidase alfa or Avalglucosidase alfa | |
| Untreated patients (those who are not currently receiving any medical therapy for Pompe disease) | Not described Receives: Other: Untreated |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate long-term safety of Pompe disease treatments
Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Nov 2023
- Study start16 Feb 2024
- Primary completion20 Dec 2034 (estimated)
- Study completion20 Dec 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Amicus Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06121011
- Sponsor's protocol ID
- POM-005
- Status last verified
- Mar 2026
- First submitted
- 2 Nov 2023
- Last updated
- 10 Mar 2026
- Results posted
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Global Prospective Observational Registry of Patients With Pompe Disease
- ClinicalTrials.gov ID
- NCT06121011
- Acronym / sponsor ID
- POM-005
- Conditions
- Pompe Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Amicus TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 16 Feb 2024 (actual)
- Primary completion
- 20 Dec 2034 (estimated)
- Study completion
- 20 Dec 2034 (estimated)
- First posted
- 7 Nov 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Cipaglucosidase alfa/Miglustat-treated patients | – | Biological: Cipaglucosidase alfa, Drug: Miglustat |
| Other Enyzme Replacement Therapy (ERT)-treated patients | – | Biological: Alglucosidase alfa or Avalglucosidase alfa |
| Untreated patients (those who are not currently receiving any medical therapy for Pompe disease) | – | Other: Untreated |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (1 listed)
- Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping
Key exclusion criteria (1 listed)
- Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cipaglucosidase alfaAlso: ATB200, PombilitiEnzyme Replacement Therapy (ERT) via intravenous infusion | Biological | Cipaglucosidase alfa/Miglustat-treated patients |
| MiglustatAlso: AT2221, OpfoldaParticipants received ATB200 co-administered with AT2221 (Miglustat) | Drug | Cipaglucosidase alfa/Miglustat-treated patients |
| Alglucosidase alfa or Avalglucosidase alfaAlso: Myozyme, Lumizyme, Nexviazyme, NexviadymePatients prescribed other commercially available ERT after local regulatory approval | Biological | Other Enyzme Replacement Therapy (ERT)-treated patients |
| UntreatedPatients who are not currently receiving any medical therapy for Pompe disease. | Other | Untreated patients (those who are not currently receiving any medical therapy for Pompe disease) |
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Mar 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
41 sites in 12 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by Amicus Therapeutics at 41 sites in 12 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 41 sites in United States, United Kingdom, Germany, Italy, Hungary and 7 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact For Site (609-662-2000, patientadvocacy@amicusrx.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate long-term safety of Pompe disease treatments (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Mar 2026.