A Global Prospective Observational Registry of Patients With Pompe Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Cipaglucosidase alfa, Miglustat, Alglucosidase alfa or Avalglucosidase alfa, Untreated.
- Who it may be relevant to
- Registry conditions: Pompe Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Austria, Belgium, Denmark, Germany +7
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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
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]
Eligibility criteria
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 15 centers
- University of Arkansas Medical Science — Little Rock
- University of California Irvine — Irvine
- Wolfson Children's Hospital — Jacksonville
- Emory University — Atlanta
- Indiana University, IU Health Physicians Neurology — Indianapolis
- Washington University School of Medicine — St Louis
- NYU Neurogenetics, NYU Langone Medical Center — New York
- Duke University Medical Center — Durham
- … and 7 more centers
United Kingdom · 8 centers
- Queen Elizabeth Hospital Birmingham — Birmingham
- Cambridge University - Addenbrooke's Hospital — Cambridge
- University Hospital of Wales, Cardiff — Cardiff
- University Hospital of Wales — Cardiff
- National Hospital for Neurology and Neurosurgery — London
- Great Ormond Street Hospital NHS Foundation Trust — London
- Royal Free Hospital NHS Foundation Trust — Manchester
- Salford Royal NHS Foundation Trust — Salford
Germany · 5 centers
- Ruhr-Universität Bochum im St. Josef-Hospital — Bochum
- SphinCS, Institute of Clinical Science in LSD — Höchheim
- Universitätsklinikum Gießen und Marburg GmhH — Marburg
- Universitat Munchen - Friedrich Baur Institut — München
- Universitaetsklinikum Ulm — Ulm
Italy · 4 centers
- Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari — Bari
- Centre of Expertise for muscular diseases and peripheral neuropathies European Reference N — Naples
- Department of Neurosciences Rita Levi Montalcini, University of Torino — Torino
- Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy — Udine
Hungary · 2 centers
- University of Pécs — Pécs
- University of Szeged, Szent-Györgyi Albert Clinical Center — Szeged
Austria · 1 center
- Medizinische Universitaet Wien — Vienna
Belgium · 1 center
- Laboratory for Muscle Diseases and Neuropathies — Leuven
Denmark · 1 center
- Aarhus Universitets hospital — Aarhus C
Greece · 1 center
- Eginition Hospital — Athens
Netherlands · 1 center
- Dept of Pediatrics Erasmus MC - Sophia Children's Hospital — Rotterdam
Poland · 1 center
- entrum Medyczne Medyk — Rzeszów
Slovenia · 1 center
- University Medical Centre Ljubljana, Institute of Clinical Neurophysiology — Ljubljana
Identifiers
NCT: NCT06121011 · POM-005