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Clinical Trials in the UK / NCT06121011
Recruiting Observational

A Global Prospective Observational Registry of Patients With Pompe Disease

NCT06121011 · tracked via the Priya Life Science UK tracker
Sponsor
Amicus Therapeutics
Phase
Observational
Started
2024-02-16
Last updated
2026-03-10

Condition(s) studied

Pompe Disease

Investigational drug(s) / intervention(s)

Cipaglucosidase alfaMiglustatAlglucosidase alfa or Avalglucosidase alfaUntreated

Cipaglucosidase alfa: Enzyme Replacement Therapy (ERT) via intravenous infusion

Miglustat: Participants received ATB200 co-administered with AT2221 (Miglustat)

Alglucosidase alfa or Avalglucosidase alfa: Patients prescribed other commercially available ERT after local regulatory approval

Untreated: Patients who are not currently receiving any medical therapy for Pompe disease.

Study 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.

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

Eligibility

Sex
ALL
Min age
Max age
Healthy volunteers
No
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)

Primary outcome measure(s)

Trial sites (41)

FacilityCityRegionStatus
University of Arkansas Medical Science Little Rock Arkansas Recruiting
University of California Irvine Irvine California Recruiting
Wolfson Children's Hospital Jacksonville Florida Recruiting
Emory University Atlanta Georgia Recruiting
Indiana University, IU Health Physicians Neurology Indianapolis Indiana Recruiting
Washington University School of Medicine St Louis Missouri Recruiting
NYU Neurogenetics, NYU Langone Medical Center New York New York Recruiting
Duke University Medical Center Durham North Carolina Recruiting
University of Cincinnati Medical Center Cincinnati Ohio Recruiting
Cincinnati Children's Hospital Cincinnati Ohio Recruiting
University of Pennsylvania Perelman Center for Advanced Medicine Philadelphia Pennsylvania Recruiting
University of Pittsburgh Pittsburgh Pennsylvania Recruiting
UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania Recruiting
University of Utah Salt Lake City Utah Recruiting
Lysosomal and Rare Disorders Research and Treatment Center, Inc. Fairfax Virginia Recruiting
Medizinische Universitaet Wien Vienna Austria Not Yet Recruiting
Laboratory for Muscle Diseases and Neuropathies Leuven Belgium Recruiting
Aarhus Universitets hospital Aarhus C Denmark Recruiting
Ruhr-Universität Bochum im St. Josef-Hospital Bochum Germany Recruiting
SphinCS, Institute of Clinical Science in LSD Höchheim Germany Recruiting
Universitätsklinikum Gießen und Marburg GmhH Marburg Germany Recruiting
Universitat Munchen - Friedrich Baur Institut München Germany Recruiting
Universitaetsklinikum Ulm Ulm Germany Not Yet Recruiting
Eginition Hospital Athens Greece Not Yet Recruiting
University of Pécs Pécs Hungary Not Yet Recruiting
University of Szeged, Szent-Györgyi Albert Clinical Center Szeged Hungary Not Yet Recruiting
Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari Bari Italy Not Yet Recruiting
Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases Naples Italy Not Yet Recruiting
Department of Neurosciences Rita Levi Montalcini, University of Torino Torino Italy Not Yet Recruiting
Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy Udine Italy Not Yet Recruiting
Dept of Pediatrics Erasmus MC - Sophia Children's Hospital Rotterdam Netherlands Not Yet Recruiting
entrum Medyczne Medyk Rzeszów Poland Not Yet Recruiting
University Medical Centre Ljubljana, Institute of Clinical Neurophysiology Ljubljana Slovenia Not Yet Recruiting
Queen Elizabeth Hospital Birmingham Birmingham United Kingdom Recruiting
Cambridge University - Addenbrooke's Hospital Cambridge United Kingdom Recruiting
University Hospital of Wales, Cardiff Cardiff United Kingdom Recruiting
University Hospital of Wales Cardiff United Kingdom Recruiting
National Hospital for Neurology and Neurosurgery London United Kingdom Recruiting
Great Ormond Street Hospital NHS Foundation Trust London United Kingdom Recruiting
Royal Free Hospital NHS Foundation Trust Manchester United Kingdom Recruiting

+ 1 more sites — see the full list on the official registry below.

More Amicus Therapeutics trials in the UK

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06121011 on ClinicalTrials.gov ↗ ← All trials in the UK