Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

About this trial record page

What this page shows

Public field values for ClinicalTrials.gov record NCT02838368, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.

What this page does not do

No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.

Where the data comes from

Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.

Last refresh

Last update posted Feb 24, 2019 · Synced Sep 11, 2026

Related: full search, browse by condition, browse by drug or therapy, browse by sponsor, browse by U.S. city.