Study of Glycogen Storage Disease and Associated Disorders

NCT ID: NCT00001342

Last Updated: 2008-03-04

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 20 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 1992-11-30
• Study Completion Date: 2001-04-30

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 Description

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.

Conditions

Glycogen Storage Disease

Eligibility Criteria

Inclusion Criteria

Patients age 20 or older, male or female.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH

Sponsor Role: lead

Locations

National Institute of Child Health and Human Development (NICHD)

Bethesda, Maryland, United States

Countries

United States

References

Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB. Renal disease in type I glycogen storage disease. N Engl J Med. 1988 Jan 7;318(1):7-11. doi: 10.1056/NEJM198801073180102.

Reference Type: BACKGROUND

PMID: 3422104 (View on PubMed)

Goans RE, Weiss GH, Vieira NE, Sidbury JB, Abrams SA, Yergey AL. Calcium kinetics in glycogen storage disease type 1a. Calcif Tissue Int. 1996 Dec;59(6):449-53. doi: 10.1007/BF00369209.

Reference Type: BACKGROUND

PMID: 8939770 (View on PubMed)

Other Identifiers

93-CH-0020

Identifier Type: -

Identifier Source: secondary_id

930020

Identifier Type: -

Identifier Source: org_study_id