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Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices

2016-07-21 02:23:21 | BioPortfolio

Summary

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.

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Conditions

Pompe Disease

Location

University of California, Irvine
Irvine
California
United States
92868

Status

Recruiting

Source

University of California, Irvine

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-07-21T02:23:21-0400

Clinical Trials [41 Associated Clinical Trials listed on BioPortfolio]

Pregnancy and Birth Outcome in Women With Pompe Disease

This study explores the outcome and effect of pregnancy on Pompe Disease. The results are expected to guide clinicians in counseling and care of women with Pompe disease, who are planning ...

Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.

The purpose of this research study is to determine if exercise will help improve muscle strength, endurance, and quality of life in individuals with Pompe disease. This is a research study...

Pompe Disease Registry

The Pompe Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Pompe disease, irrespective of trea...

Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)

Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, ...

Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease

Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pomp...

PubMed Articles [14441 Associated PubMed Articles listed on BioPortfolio]

Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease.

Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients.

A new phenotype of infantile-onset Pompe disease.

Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic fo...

Incidence of infantile Pompe disease in the Maroon population of French Guiana.

The aim of this study was to describe the epidemiology of infantile Pompe disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective case records study and a prospective...

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

PurposeTo describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease.MethodsThe new marker is a ratio calculated between the cr...

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy.

Medical and Biotech [MESH] Definitions

Animate or inanimate sources which normally harbor disease-causing organisms and thus serve as potential sources of disease outbreaks. Reservoirs are distinguished from vectors (DISEASE VECTORS) and carriers, which are agents of disease transmission rather than continuing sources of potential disease outbreaks.

Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.

The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.

Immune-mediated inflammation of the PITUITARY GLAND often associated with other autoimmune diseases (e.g., HASHIMOTO DISEASE; GRAVES DISEASE; and ADDISON DISEASE).

An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut.

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