Viewing Study NCT00001342



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Last Modification Date: 2024-10-26 @ 9:02 AM
Study NCT ID: NCT00001342
Status: COMPLETED
Last Update Posted: 2008-03-04
First Post: 1999-11-03

Brief Title: Study of Glycogen Storage Disease and Associated Disorders
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: A Study of Collateral Disorders of Glycogen Storage Disease
Status: COMPLETED
Status Verified Date: 1999-10
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
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

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: None
Is a FDA Regulated Device?: None
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None
Secondary IDs
Secondary ID Type Domain Link
93-CH-0020 None None None