Completed

A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

0 criteria met from your profileSee at a glance how your profile meets each eligibility criteria.
What is being collected

Data Collection

Collected from today forward - Prospective
Who is being recruted

Brain Diseases+12

+ Brain Diseases, Metabolic

+ Carbohydrate Metabolism, Inborn Errors

Over 8 Years
See all eligibility criteria
How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.
Observational
Study Start: March 2004
See protocol details

Summary

Principal SponsorGenzyme, a Sanofi Company
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner

Study start date: March 1, 2004

Actual date on which the first participant was enrolled.

Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to collect prospective, observational data on patients with late-onset Pompe disease. Approximately 60 subjects with late-onset Pompe disease will be enrolled.

Official TitleA Prospective, Observational Study in Patients With Late-Onset Pompe Disease 
NCT00077662
Principal SponsorGenzyme, a Sanofi Company
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details

61 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Over 8 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Brain DiseasesBrain Diseases, MetabolicCarbohydrate Metabolism, Inborn ErrorsCentral Nervous System DiseasesDiseaseGlycogen Storage DiseaseGlycogen Storage Disease Type IIMetabolic DiseasesMetabolism, Inborn ErrorsNervous System DiseasesPathologic ProcessesLysosomal Storage DiseasesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornGenetic Diseases, Inborn

Criteria

Inclusion Criteria: * The patient must provide signed, informed consent prior to performing any study-related procedures. * The patient must have a diagnosis of Pompe disease based upon: a) documented marked deficiency of GAA activity by muscle biopsy, skin fibroblasts, or leukocytes OR b) documented GAA gene mutation by deoxyribonucleic acid (DNA) analysis * The patient must be greater than 8 years of age if enrolled at a site in the U.S. and greater than 18 years of age if enrolled at a site in Europe * The patient must have documented onset of symptoms of Pompe disease after 12 months of age * The patient must have at least 3 testable muscle groups in the arms and 3 testable muscle groups in the legs using quantitative muscle testing * The patient must be able to perform pulmonary and muscle function testing in the supine position * The patient must be able to provide reproducible muscle and pulmonary function test results within 10% of each other performed on Day 1 and Day 2 of the Screening/Baseline visit and forced vital capacity measurements within 10% of each other performed in the upright position on Day 1 and Day 2 of the Screening/Baseline visit * The patient must have the ability to comply with the clinical protocol Exclusion Criteria: * The patient is unable to ambulate (use of assistive devices, such as walker, cane, crutches, is permitted); * The patient requires the use of invasive ventilatory support. * The patient requires the use of noninvasive ventilatory support during waking hours. * The patient has received enzyme replacement therapy with acid alpha-glucosidase from any source * The patient has received an investigational drug within 30 days prior to study enrollment, or is currently enrolled in another study which involves clinical evaluations * The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, may significantly interfere with study compliance including all prescribed evaluations and follow-up activities * The patient has a major congenital abnormality * For female patients only, the patient is pregnant or lactating, or is unwilling to practice birth control methods during the course of the study

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 5 locations

Suspended

Children's Hospital Medical Center

Washington, United StatesSee the location
Suspended

School of Medicine, Campus Box 8111

St. Louis, United States
Suspended

Children's Hospital & Regional Medical Center

Seattle, United States
Suspended

Institut de Myologie, Groupe Hospitalier Pitie-Salpetriere, Batimant Babinski

Paris 75651, France
Completed5 Study Centers