Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

921 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-07-31

Study Completion Date

2018-12-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

The incidence of type II glycogen-storage disease (Pompe disease) varies depending on ethnicity and geographic region. As of 2010, nine studies have been published documenting the incidence of Pompe disease. It is most common within the African American population, with an incidence of 1 in 14,000. In the U.S. more broadly speaking, the combined incidence of all three variants of the disease is 1 in 40,000. These estimates relied on the frequencies of three mutations in the gene acid alpha-glucosidase (GAA), leading to variants of the disease. Criteria for inclusion in the studies were often non-selective; in many cases, molecular genetic screening was done at birth. With such a high prevalence of Pompe disease reported, it is expected that large university medical centers specializing in neuromuscular diseases would see a higher incidence of Pompe disease among their patients. From a comparable Italian multicenter study, it appears that Pompe disease accounts for 3% of all patients presenting with proximal weakness with or without CK elevation.

This study will measure the incidence of Pompe disease based on manifest laboratory abnormality, namely low GAA enzyme activity. Analysis of GAA enzyme activity will be determined through a blood sample of 4 mL. The study seeks to measure the epidemiology of Pompe disease by symptomatically screening all patients who present with symptoms of hitherto undiagnosed proximal weakness with or without elevation of the muscle enzyme, creatinine kinase (CK), or elevation of CK alone, at thirteen academic tertiary neuromuscular practices throughout the United States and Canada. Total recruitment is expected to be \~1,500 participants. It is anticipated that the number of incident Pompe cases in this cohort would be between 3-5%, i.e. 45-75 newly diagnosed cases of Pompe disease.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

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

NCT00077662

Glycogen Storage Disease Type II

COMPLETED

Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

NCT00125879

Glycogen Storage Disease Type II

COMPLETED PHASE2/PHASE3

Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease

NCT00113035

Pompe Disease

COMPLETED

A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

NCT00059280

Glycogen Storage Disease Type II

COMPLETED PHASE2/PHASE3

A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

NCT06150820

Pompe Disease (Late-onset)

ACTIVE_NOT_RECRUITING NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Pompe Disease

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Age 8 years or older.
* Geographically accessible to one of the sites.
* One of these following three clinical situations: Complaint of proximal muscle weakness with or without elevation in creatinine kinase (CK); neck muscle weakness (either flexor or extensor) with or without elevation in CK; or elevation of CK in isolation.
* Capable and willing to provide informed consent or assent and follow study procedures.

Exclusion Criteria

* Less than 8 years of age.
* Subjects with an alternative neuromuscular diagnosis that is responsible for subject's symptoms
* Incapable or unwilling to provide informed consent and to follow research procedures.

Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No