Study of Glycogen Storage Disease and Associated Disorders

NCT00001342 | Completed

• 2 other identifiers: 93002093-CH-0020
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

Glycogen Storage Disease

Keywords

Electrooculography; Electroretinogram; Fluorescein Angiogram; Glycogen Storage Disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

Patients age 20 or older, male or female.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

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

Study Sites (1)

National Institute of Child Health and Human Development (NICHD)

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• 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.

  PMID: 3422104 BACKGROUND

• 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.

  PMID: 8939770 BACKGROUND

MeSH Terms

Conditions

Glycogen Storage Disease

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: December 10, 2002
• Study Start: November 1, 1992
• Study Completion: April 1, 2001
• Last Updated: March 4, 2008

Record last verified: 1999-10

Locations

US (1)