Clinical Trial: Biomarker for Pompe Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Biomarker for Pompe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from plasma.

Detailed Summary:

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal dis-order that disables the heart and muscles. It is caused by mutations in a gene that encodes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, the long-term storage form of sugar, into glucose, which the body can utilize to gain energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate the activity of this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.

Early onset (or infantile) Pompe disease is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe dis-ease also have enlarged tongues. Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday.

Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart may be involved but it will not be grossly enlarged. A diagnosis of Pompe di
Sponsor: University of Rostock

Current Primary Outcome: Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from plasma and saliva [ Time Frame: 24 month ]

Original Primary Outcome:

Current Secondary Outcome: Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]

Original Secondary Outcome:

Information By: University of Rostock

Dates:
Date Received: October 21, 2011
Date Started: October 2011
Date Completion: November 2018
Last Updated: May 3, 2017
Last Verified: May 2017