Glycogen Storage DiseaseNCT02057731
Study of Glycogen Storage Disease Expression in Carriers
An observational study of Glycogen Storage Disease, run by University of Florida at 1 site in United States.
Trial summary
The purpose of the study is to determine whether carrier status for any type of glycogen storage disease (GSD) predisposes the carrier to GSD markers, like high cholesterol, by testing blood, urine, and saliva samples. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Glycogen Storage Disease
- What is being tested?
- Glycogen Storage Disease markers
- How many people
- 114 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2014to Jul 2016
- 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 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Parents and other family members of patients currently undergoing treatment for GSD at the University of Florida
Who may be able to join
- parents and other family members of patients undergoing treatment for GSD at the University of Florida
Who cannot join
- pregnant females
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers
The purpose of the study is to determine whether carrier status for any type of glycogen storage disease (GSD) predisposes the carrier to GSD markers, like high cholesterol, by testing blood, urine, and saliva samples.
Read the detailed description
Subjects will be asked to contribute about a teaspoon of blood, 1 oz of urine, and 2 tablespoons of saliva samples in the morning before they have had anything to eat. The blood and urine samples will be tested for the markers of GSD, while the saliva sample will be used for genetic testing. Subjects' height and weight will also be measured.
Subjects will also be asked to fill out a questionnaire about symptoms common to full GSD expression that they may have experienced, as well as if they are currently on any medication to control their cholesterol.
- Conditions
- Glycogen Storage Disease
- Being tested
- Glycogen Storage Disease markers
- Medical subject headings
- Glycogen Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Glycogen Storage Disease markersGenetic
Blood and urine tests will be performed on all groups to measure markers of GSD. A saliva DNA test will be used to determine the specific mutation the carrier has or to ensure noncarrier status. A questionnaire will also be filled out.
| Study group | Role | What they receive |
|---|---|---|
| Ia carriers | Carriers of GSD type Ia will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. Receives: Genetic: Glycogen Storage Disease markers | |
| Ib carriers | Carriers of GSD type Ib will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. Receives: Genetic: Glycogen Storage Disease markers | |
| III carriers | Carriers of GSD type III will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. Receives: Genetic: Glycogen Storage Disease markers | |
| 0, VI, IX carriers | Carriers of GSD types 0, VI, and IX will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. Receives: Genetic: Glycogen Storage Disease markers | |
| Noncarriers | Noncarriers of any type of GSD will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to ensure their noncarrier status. A questionnaire will also be filled out. Receives: Genetic: Glycogen Storage Disease markers |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cholesterol level blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Secondary outcomes (13)
Comprehensive metabolic panel blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Lipid panel blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Uric acid level blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Creatine kinase (CK) level blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
C-reactive protein (CRP) level blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Calcium level urine test
Urine test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Citrate level urine test
Urine test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Creatinine level urine test
Urine test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Microalbumin level urine test
Urine test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Oxalate level urine test
Urine test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Uric acid level urine test
Urine test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Prealbumin blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Hemoglobin A1C blood test
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Feb 2014 (estimated)
- Study startFeb 2014
- Primary completionJul 2016
- Study completionJul 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Glycogen Storage DiseaseStudies of the same condition, open and under way.
- More trials run by University of FloridaThe sponsor's other registered studies.
- 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
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 114 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- David A Weinstein, MD, Principal investigator, University of Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02057731
- Sponsor's protocol ID
- IRB201300688
- Status last verified
- Dec 2016
- First submitted
- 5 Feb 2014
- Last updated
- 2 Dec 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Publications
Weinstein DA, Correia CE, Conlon T, Specht A, Verstegen J, Onclin-Verstegen K, Campbell-Thompson M, Dhaliwal G, Mirian L, Cossette H, Falk DJ, Germain S, Clement N, Porvasnik S, Fiske L, Struck M, Ramirez HE, Jordan J, Andrutis K, Chou JY, Byrne BJ, Mah CS. Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther. 2010 Jul;21(7):903-10. doi: 10.1089/hum.2009.157.
PubMed 20163245
Study at a glance
From the registry record, last updated by the sponsor on 2 Dec 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers
- ClinicalTrials.gov ID
- NCT02057731
- Acronym / sponsor ID
- IRB201300688
- Conditions
- Glycogen Storage Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 114 participants (actual)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Study start
- Feb 2014
- Primary completion
- Jul 2016 (actual)
- Study completion
- Jul 2016 (actual)
- First posted
- 7 Feb 2014 (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.
The purpose of the study is to determine whether carrier status for any type of glycogen storage disease (GSD) predisposes the carrier to GSD markers, like high cholesterol, by testing blood, urine, and saliva samples.
Detailed description
Subjects will be asked to contribute about a teaspoon of blood, 1 oz of urine, and 2 tablespoons of saliva samples in the morning before they have had anything to eat. The blood and urine samples will be tested for the markers of GSD, while the saliva sample will be used for genetic testing. Subjects' height and weight will also be measured.
Subjects will also be asked to fill out a questionnaire about symptoms common to full GSD expression that they may have experienced, as well as if they are currently on any medication to control their cholesterol.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| Ia carriers | – | Genetic: Glycogen Storage Disease markersCarriers of GSD type Ia will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. |
| Ib carriers | – | Genetic: Glycogen Storage Disease markersCarriers of GSD type Ib will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. |
| III carriers | – | Genetic: Glycogen Storage Disease markersCarriers of GSD type III will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. |
| 0, VI, IX carriers | – | Genetic: Glycogen Storage Disease markersCarriers of GSD types 0, VI, and IX will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out. |
| Noncarriers | – | Genetic: Glycogen Storage Disease markersNoncarriers of any type of GSD will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to ensure their noncarrier status. A questionnaire will also be filled out. |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Parents and other family members of patients currently undergoing treatment for GSD at the University of Florida
Key inclusion criteria (1 listed)
- parents and other family members of patients undergoing treatment for GSD at the University of Florida
Key exclusion criteria (1 listed)
- pregnant females
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Glycogen Storage Disease markersBlood and urine tests will be performed on all groups to measure markers of GSD. A saliva DNA test will be used to determine the specific mutation the carrier has or to ensure noncarrier status. A questionnaire will also be filled out. | Genetic | 0, VI, IX carriers, III carriers, Ia carriers, Ib carriers, Noncarriers |
Primary outcome
Cholesterol level blood test
Time frame: 1 day
Blood test will be performed on all groups to measure markers of glycogen storage disease.
13 secondary outcomes
Comprehensive metabolic panel blood test
Time frame: 1 day
Lipid panel blood test
Time frame: 1 day
Uric acid level blood test
Time frame: 1 day
Creatine kinase (CK) level blood test
Time frame: 1 day
C-reactive protein (CRP) level blood test
Time frame: 1 day
Calcium level urine test
Time frame: 1 day
Citrate level urine test
Time frame: 1 day
Creatinine level urine test
Time frame: 1 day
Microalbumin level urine test
Time frame: 1 day
Oxalate level urine test
Time frame: 1 day
Uric acid level urine test
Time frame: 1 day
Prealbumin blood test
Time frame: 1 day
Hemoglobin A1C blood test
Time frame: 1 day
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 2 Dec 2016.
- Background: PubMed 20163245Weinstein DA, Correia CE, Conlon T, Specht A, Verstegen J, Onclin-Verstegen K, Campbell-Thompson M, Dhaliwal G, Mirian L, Cossette H, Falk DJ, Germain S, Clement N, Porvasnik S, Fiske L, Struck M, Ramirez HE, Jordan J, Andrutis K, Chou JY, Byrne BJ, Mah CS. Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther. 2010 Jul;21(7):903-10. doi: 10.1089/hum.2009.157.
- Individual participant dataSharing planned: Undecided
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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.
David A Weinstein, MD principal investigator
University of Florida
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 University of Florida at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Dec 2016. 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.
What does the primary outcome measure?
Cholesterol level blood test (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02057731, which also lists 1 linked publication.
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 2 Dec 2016.