McArdle DiseaseNCT04694547
Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)
An observational study of McArdle Disease, run by Nicoline Løkken at 1 site in Denmark.
Trial summary
The purpose of this survey is to report experiences with variants of a ketogenic diet in a group of individuals diagnosed with McArdle disease (glycogen storage disease type V). Further more the survey will report on physical activity, fatigue, sleep and quality of life in this cohort. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- McArdle Disease
- How many people
- 200 participants
- Where
- 1 siteDenmark
- Study dates
- 10 Jan 2021to 1 Dec 2022
- 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: McArdle disease
Who may be able to join
- Verified GSDV diagnosis
Who cannot join
- Age under 18 years
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Ketogenic Diet Survey in GSDV
The purpose of this survey is to report experiences with variants of a ketogenic diet in a group of individuals diagnosed with McArdle disease (glycogen storage disease type V). Further more the survey will report on physical activity, fatigue, sleep and quality of life in this cohort.
Read the detailed description
Currently, there is no satisfactory treatment for McArdle disease. The limitation in people with McArdle disease is due to a limited availability of energy in the muscle due to affected carbohydrate metabolism. A key element in improving muscle function is therefore to introduce alternative energy sources. Ketone bodies are a well-known source of energy for both brain and muscle. Ketone bodies are produced during fasting or when following a ketogenic diet. A ketogenic diet is a diet high in fat and low in carbohydrates. The classic ketogenic diet contains up to 90% fat, but there are several alternative diets with less fat, including a modified ketogenic diet, Atkins diet, LCHF (low carb high fat), OMAD (one meal a day) and more. This survey will collect information on all variations. The rationale for a ketogenic diet for persons with McArdle disease makes good sense in theory, as the diet would contribute with a new source of energy (ketone bodies) independent of the affected carbohydrate breakdown. However, evidence is sparse on whether the diet actually works. The primary purpose of this survey is to report experiences with variants of the ketogenic diet in a group of individuals diagnosed with McArdle disease. Secondarily this survey will collect information on physical activity, fatigue, sleep and quality of life in this cohort
- Conditions
- McArdle Disease
- Being tested
- There is no intervention, as this is a survey study
- Medical subject headings
- Glycogen Storage Disease Type V
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
There is no intervention, as this is a survey studyOther
Survey
What is being measured
The primary outcome is the main question the study is designed to answer.
Questions on experiences with a ketogenic diet
Survey
Measured: Baseline
IPAQ (INTERNATIONAL PHYSICAL ACTIVITY QUESTIONNAIRE) short form
Survey
Measured: Baseline
MFI-20 (MULTIDIMENSIONAL FATIGUE INVENTORY)
Survey
Measured: Baseline
ISI (insomnia severity index)
Survey
Measured: Baseline
MGQOL 15 score (Myasthenia Gravis Quality Of Life)
Survey
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jan 2021
- Study start10 Jan 2021
- Primary completion1 Nov 2022
- Study completion1 Dec 2022
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 McArdle 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
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 200 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nicoline Løkken
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Nicoline Løkken, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04694547
- Sponsor's protocol ID
- Ketogenic diet survey in GSDV
- Status last verified
- Feb 2023
- First submitted
- 5 Oct 2020
- Last updated
- 13 Feb 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Reason SL, Lokken N, Voermans N. International patient group harnesses social media to help inform rare disease research: use of a low carbohydrate ketogenic diet in McArdle disease. Curr Opin Endocrinol Diabetes Obes. 2021 Oct 1;28(5):441-445. doi: 10.1097/MED.0000000000000663.
PubMed 34269712
Study at a glance
From the registry record, last updated by the sponsor on 13 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Ketogenic Diet Survey in GSDV
- ClinicalTrials.gov ID
- NCT04694547
- Acronym / sponsor ID
- Ketogenic diet survey in GSDV
- Conditions
- McArdle Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 200 participants (actual)
- Lead sponsor
- Nicoline LøkkenUniversity, hospital or other
- Study start
- 10 Jan 2021 (actual)
- Primary completion
- 1 Nov 2022 (actual)
- Study completion
- 1 Dec 2022 (actual)
- First posted
- 5 Jan 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 purpose of this survey is to report experiences with variants of a ketogenic diet in a group of individuals diagnosed with McArdle disease (glycogen storage disease type V). Further more the survey will report on physical activity, fatigue, sleep and quality of life in this cohort.
Detailed description
Currently, there is no satisfactory treatment for McArdle disease. The limitation in people with McArdle disease is due to a limited availability of energy in the muscle due to affected carbohydrate metabolism. A key element in improving muscle function is therefore to introduce alternative energy sources. Ketone bodies are a well-known source of energy for both brain and muscle. Ketone bodies are produced during fasting or when following a ketogenic diet. A ketogenic diet is a diet high in fat and low in carbohydrates. The classic ketogenic diet contains up to 90% fat, but there are several alternative diets with less fat, including a modified ketogenic diet, Atkins diet, LCHF (low carb high fat), OMAD (one meal a day) and more. This survey will collect information on all variations. The rationale for a ketogenic diet for persons with McArdle disease makes good sense in theory, as the diet would contribute with a new source of energy (ketone bodies) independent of the affected carbohydrate breakdown. However, evidence is sparse on whether the diet actually works. The primary purpose of this survey is to report experiences with variants of the ketogenic diet in a group of individuals diagnosed with McArdle disease. Secondarily this survey will collect information on physical activity, fatigue, sleep and quality of life in this cohort
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- McArdle disease
Key inclusion criteria (1 listed)
- Verified GSDV diagnosis
Key exclusion criteria (1 listed)
- Age under 18 years
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 |
|---|---|---|
| There is no intervention, as this is a survey studySurvey | Other | – |
Primary outcome
Questions on experiences with a ketogenic diet
Time frame: Baseline
Survey
IPAQ (INTERNATIONAL PHYSICAL ACTIVITY QUESTIONNAIRE) short form
Time frame: Baseline
Survey
MFI-20 (MULTIDIMENSIONAL FATIGUE INVENTORY)
Time frame: Baseline
Survey
ISI (insomnia severity index)
Time frame: Baseline
Survey
MGQOL 15 score (Myasthenia Gravis Quality Of Life)
Time frame: Baseline
Survey
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 13 Feb 2023.
- Derived from this study: PubMed 34269712Reason SL, Lokken N, Voermans N. International patient group harnesses social media to help inform rare disease research: use of a low carbohydrate ketogenic diet in McArdle disease. Curr Opin Endocrinol Diabetes Obes. 2021 Oct 1;28(5):441-445. doi: 10.1097/MED.0000000000000663.
- Individual participant dataSharing planned: Undecided
Related trials for McArdle Disease
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Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.
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Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases
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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 McArdle Disease, run by Nicoline Løkken 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 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 13 Feb 2023. 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?
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?
Questions on experiences with a ketogenic diet (time frame: Baseline). The study lists 5 primary outcomes in all. 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 NCT04694547, 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 13 Feb 2023; AzTrials last refreshed its copy on 8 Nov 2026.