Glycogen Storage DiseaseNCT04929002
Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases
An observational study of Glycogen Storage Disease and McArdle Disease, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial summary
The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Glycogen Storage Disease, McArdle Disease, Pompe Disease (Late-onset)
- How many people
- 50 participants
- Where
- 1 siteDenmark
- Study dates
- 10 Dec 2021to Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients with Pompe or McArdle disease and healthy controls
Who may be able to join
- Subjects with genetically verified neuromuscular disease or healthy control
- Healthy controls needs to be healthy to be included, evaluated by the investigator
Who cannot join
- Ferrous objects in or around the body
- Pacemaker or other implanted electronic devices
- Claustrophobia
- Inability to understand the purpose of the trial or corporate for the conduction of the experiments.
- Participation in other trials that may interfere with the results.
- Competing conditions at risk of compromising the results of the study, evaluated by the investigator.
- Strenuous exercise in the preceding 2 days before examination
- Pregnancy or breastfeeding
Trial locations and contacts
1 site in 1 country.
Denmark1 site
Neuromuscular Research Unit, 8077
Copenhagen, Copenhange, DK-2100
About this study
Official title: Using Carbon-13 Magnetic Resonance Spectroscopy to Assess Whether High Glycogen Levels in Skeletal Muscle of Patients With Glycogen Storage Diseases is a Prelude for Muscle Damage.
The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage.
Patients with Glycogen Storage Diseases will be examined using carbon-13 MR-spectroscopy to quantify the glycogen levels in lumbar, thigh and calf-muscles. The pattern of glycogen concentration will be compared to the pattern of muscle atrophy found in the literature.
- Being tested
- No intervention
- Medical subject headings
- Glycogen Storage Disease, Glycogen Storage Disease Type V, Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention
| Study group | Role | What they receive |
|---|---|---|
| McArdle Disease | Not described Receives: Other: No intervention | |
| Pompe disease | Not described Receives: Other: No intervention | |
| Controls | Not described Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Glycogen concentration
- The difference in muscle glycogen between patients and controls
- The difference in muscle glycogen between different muscle groups in patients.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jun 2021
- Study start10 Dec 2021
- Primary completionMay 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage DiseaseStudies of the same condition, open and under way.
- More trials run by Copenhagen University Hospital, RigshospitaletThe 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
- Other
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Collaborators
- Danish Research Center for Magnetic Resonance
- Responsible party
- Principal investigator, Mads Peter Godtfeldt Stemmerik, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04929002
- Sponsor's protocol ID
- 7TMRS in GSD
- Status last verified
- Aug 2025
- First submitted
- 3 Jun 2021
- Last updated
- 11 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Using Carbon-13 Magnetic Resonance Spectroscopy to Assess Whether High Glycogen Levels in Skeletal Muscle of Patients With Glycogen Storage Diseases is a Prelude for Muscle Damage.
- ClinicalTrials.gov ID
- NCT04929002
- Acronym / sponsor ID
- 7TMRS in GSD
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Collaborators
- Danish Research Center for Magnetic Resonance
- Study start
- 10 Dec 2021 (actual)
- Primary completion
- May 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 18 Jun 2021 (actual)
- 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 project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage.
Patients with Glycogen Storage Diseases will be examined using carbon-13 MR-spectroscopy to quantify the glycogen levels in lumbar, thigh and calf-muscles. The pattern of glycogen concentration will be compared to the pattern of muscle atrophy found in the literature.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| McArdle Disease | – | Other: No intervention |
| Pompe disease | – | Other: No intervention |
| Controls | – | Other: No intervention |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with Pompe or McArdle disease and healthy controls
Key inclusion criteria (2 listed)
- Subjects with genetically verified neuromuscular disease or healthy control
- Healthy controls needs to be healthy to be included, evaluated by the investigator
Key exclusion criteria (8 listed)
- Ferrous objects in or around the body
- Pacemaker or other implanted electronic devices
- Claustrophobia
- Inability to understand the purpose of the trial or corporate for the conduction of the experiments.
- Participation in other trials that may interfere with the results.
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 |
|---|---|---|
| No interventionNo intervention | Other | Controls, McArdle Disease, Pompe disease |
Primary outcome
Glycogen concentration
Time frame: Day 1
1. The difference in muscle glycogen between patients and controls 2. The difference in muscle glycogen between different muscle groups in patients.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Aug 2025.
- Individual participant dataSharing planned: No
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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 and McArdle Disease, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
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 2 inclusion and 8 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: under way, not looking for participants, as of the sponsor's last update on 11 Aug 2025. 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 Denmark. 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?
This study is still under way. Results are not available in the source record yet.
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?
Glycogen concentration (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 11 Aug 2025.