Clinical trial NCT06121011: A Global Prospective Observational Registry of Patients With Pompe Disease
Official title: A Global Prospective Observational Registry of Patients With Pompe Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pompe Disease
Lead sponsor: Amicus Therapeutics
Sponsor class: INDUSTRY
First posted: 2023-11-07
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

Brief 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 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)

Primary outcomes:
measure: Evaluate long-term safety of Pompe disease treatments
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Little Rock
country: United States
facility: University of Arkansas Medical Science
state: Arkansas
city: Irvine
country: United States
facility: University of California Irvine
state: California
city: Jacksonville
country: United States
facility: Wolfson Children's Hospital
state: Florida
city: Atlanta
country: United States
facility: Emory University
state: Georgia
city: Indianapolis
country: United States
facility: Indiana University, IU Health Physicians Neurology
state: Indiana
city: Saint Louis
country: United States
facility: Washington University School of Medicine
state: Missouri
city: New York
country: United States
facility: NYU Neurogenetics, NYU Langone Medical Center
state: New York
city: Durham
country: United States
facility: Duke University Medical Center
state: North Carolina
city: Cincinnati
country: United States
facility: University of Cincinnati Medical Center
state: Ohio
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital
state: Ohio
city: Philadelphia
country: United States
facility: University of Pennsylvania Perelman Center for Advanced Medicine
state: Pennsylvania
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
city: Pittsburgh
country: United States
facility: UPMC Children's Hospital of Pittsburgh
state: Pennsylvania
city: Fairfax
country: United States
facility: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
state: Virginia
city: Leuven
country: Belgium
facility: Laboratory for Muscle Diseases and Neuropathies
city: Bochum
country: Germany
facility: Ruhr-Universität Bochum im St. Josef-Hospital
city: Hochheim
country: Germany
facility: SphinCS, Institute of Clinical Science in LSD
city: Marburg
country: Germany
facility: Universitätsklinikum Gießen und Marburg GmhH
city: Birmingham
country: United Kingdom
facility: Queen Elizabeth Hospital Birmingham
city: Cambridge
country: United Kingdom
facility: Cambridge University - Addenbrooke's Hospital
city: London
country: United Kingdom
facility: National Hospital for Neurology and Neurosurgery
city: London
country: United Kingdom
facility: Great Ormond Street Hospital NHS Foundation Trust
city: Manchester
country: United Kingdom
facility: Royal Free Hospital NHS Foundation Trust
city: Salford
country: United Kingdom
facility: Salford Royal NHS Foundation Trust
Study officials:
References: