Glycogen Storage DiseaseNCT00001342
Study of Glycogen Storage Disease and Associated Disorders
An observational study of Glycogen Storage Disease, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Glycogen Storage Disease
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 1992to Apr 2001
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Patients age 20 or older, male or female.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institute of Child Health and Human Development (NICHD)
Bethesda, Maryland, 20892
About this study
Official title: A Study of Collateral Disorders of Glycogen Storage Disease
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.
Read more
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.
Read the 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
- Keywords
- Electrooculography, Electroretinogram, Fluorescein Angiogram, Glycogen Storage Disease
- Medical subject headings
- Glycogen Storage Disease
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2002 (estimated)
- Study startNov 1992
- Study completionApr 2001
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Glycogen Storage DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 20 participants
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001342
- Sponsor's protocol ID
- 930020
- Other IDs
- 93-CH-0020
- Status last verified
- Oct 1999
- First submitted
- 3 Nov 1999
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
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.
PubMed 3422104Goans 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.
PubMed 8939770
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study of Collateral Disorders of Glycogen Storage Disease
- ClinicalTrials.gov ID
- NCT00001342
- Acronym / sponsor ID
- 930020
- Conditions
- Glycogen Storage Disease
- Keywords
- Electrooculography, Electroretinogram, Fluorescein Angiogram, Glycogen Storage Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- Nov 1992
- Study completion
- Apr 2001
- First posted
- 10 Dec 2002 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2008.
- Background: PubMed 3422104Chen 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.
- Background: PubMed 8939770Goans 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glycogen Storage Disease, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Mar 2008. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001342, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Mar 2008.