Clinical Trial: Study of Glycogen Storage Disease and Associated Disorders

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: A Study of Collateral Disorders of Glycogen Storage Disease

Brief Summary:

Glycogen, is the storage form of glucose. It is usually formed from sugar and stored in the liver. When tissues, such as muscle, need glucose for fuel the stored glycogen is converted into glucose with the help of enzymes produced in the body. Glycogen storage disease (GSD) refers to a group of conditions characterized by abnormal storage of glycogen due to the absence of particular enzymes needed in the process of storing and using glycogen.

This study addresses the related metabolic abnormalities of glycogen storage disease (GSD). As patients with disorders of glycogen metabolism are followed it becomes apparent that the condition is much more complex than initially thought.

Researchers believe that patients suffering from glycogen storage disorders should be followed and monitored for other heritable metabolic disorders.

This study will attempt to determine the frequency of associated disorders in patients with GSD. In addition, the study will look at the current management of these patients to see if the prognosis and course of the disease is changed.

Detailed Summary: This study addresses the related metabolic abnormalities of the glycogeneses. As more older individuals with glycogen storage disease are followed and studied, it becomes apparent that when individuals with glycogenosis are viewed from a longitudinal perspective, the condition is much more complex and diverse in its related conditions than one would have reason to believe, even in hindsight. It is relevant to follow these individuals, searching for abnormalities not only with glycogen storage disease in mind, but also because other heritable metabolic disorders, including cystinosis and cystic fibrosis, reflect the accumulation of associated disorders with age which often have no apparent direct association with GSD.
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Current Primary Outcome:

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Original Secondary Outcome:

Information By: National Institutes of Health Clinical Center (CC)

Dates:
Date Received: November 3, 1999
Date Started: November 1992
Date Completion: April 2001
Last Updated: March 3, 2008
Last Verified: October 1999