🔎 Trials Near Me

Home › Glycogen Storage Disease Type II › NCT06121011

A Global Prospective Observational Registry of Patients With Pompe Disease

RecruitingObservational study

Who can join

All ages · All sexes

Full 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)

About the 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

What is being tested

Sponsor: Amicus Therapeutics · Participants: 500 · Started: Feb 16, 2024

Contact the study team

Official record on ClinicalTrials.gov — NCT06121011

Locations in the U.S.

ArkansasUniversity of Arkansas Medical Science, Little Rock
CaliforniaUniversity of California Irvine, Irvine
FloridaWolfson Children's Hospital, Jacksonville
GeorgiaEmory University, Atlanta
IndianaIndiana University, IU Health Physicians Neurology, Indianapolis
MissouriWashington University School of Medicine, St Louis
New YorkNYU Neurogenetics, NYU Langone Medical Center, New York
North CarolinaDuke University Medical Center, Durham
OhioCincinnati Children's Hospital, Cincinnati
University of Cincinnati Medical Center, Cincinnati
PennsylvaniaUniversity of Pennsylvania Perelman Center for Advanced Medicine, Philadelphia
UPMC Children's Hospital of Pittsburgh, Pittsburgh
University of Pittsburgh, Pittsburgh
UtahUniversity of Utah, Salt Lake City
VirginiaLysosomal and Rare Disorders Research and Treatment Center, Inc., Fairfax

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.