McArdle DiseaseNCT03843606
Modified Ketogenic Diet in Patients With McArdle Disease Part A
A study testing Modified ketogenic diets in people with McArdle Disease, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial summary
McArdle disease, glycogen storage disease type V, is a rare metabolic disease. Affected individuals are unable to utilize sugar stored as glycogen in muscle. We hypothesize that a modified ketogenic diet could be a potential treatment option, by providing ketones as alternative fuel substrates for working muscle. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- McArdle Disease
- What is being tested?
- Modified ketogenic diets
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 11 participants
- Where
- 1 siteDenmark
- Study dates
- 16 Feb 2019to 8 May 2019
- Phase
- Interventional
- 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 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Genetically confirmed GSDV
- Patient is willing and able to provide written informed consent prior to participation.
- Patient is ambulatory.
- Women in fertile age must be willing to practice the following medically acceptable methods of birth control
Who cannot join
- Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements.
- Pregnancy or breastfeeding
- Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments
- Patients with porphyria or disorders of fat metabolism (primary carnitine deficiency, carnitine palmitoyltransferase I or II, β-oxidation defects etc.).
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Modified Ketogenic Diet in Patients With McArdle Disease Part A - a Pilot Study
McArdle disease, glycogen storage disease type V, is a rare metabolic disease. Affected individuals are unable to utilize sugar stored as glycogen in muscle.
We hypothesize that a modified ketogenic diet could be a potential treatment option, by providing ketones as alternative fuel substrates for working muscle.
In this open interventional pilot study we wish to investigate 3 different modified ketogenic diet regimes, to find an optimal composition of a modified ketogenic diet that ensures adequate degree of ketosis and at the same time is well tolerated for patients with McArdle disease.
Read the detailed description
Open interventional study to investigate 3 different modified ketogenic diet regimes, to find an optimal composition of a modified ketogenic diet for patients with McArdle disease
McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in muscle, leading to exercise intolerance, exercise-induced muscle pain, contractures and rhabdomyolysis, which may cause renal failure. Currently, there are no satisfactory treatment options for McArdle disease. Ketones are feasible fuel alternatives to muscle glycogen when muscle glycogenolysis is blocked as in McArdle disease.
A key element of alleviating symptoms in McArdle disease is to provide alternative fuels for energy metabolism. Ketosis can potentially provide alternative fuel substrates by provision of endogenous ketone bodies (KBs) which are desirable fuels for skeletal muscle and brain. Ketosis can be reached by fasting and can be induced by adhering to a modified ketogenic diet, which entails a high-fat, low-carbohydrate diet, which simulates the metabolic effects of fasting.
The optimal modified ketogenic diet composition, that ensures adequate degree of ketosis and at the same time is well tolerated, has not been investigated in patients with McArdle disease. Therefore this pilot study seeks to investigate which of 3 different diets is the most optimal ad effective for patients with McArdle disease. The 3 different diets will have carbohydrate percentages ranging from 5-25%, and fat percentage from 60-80%.
- Conditions
- McArdle Disease
- Being tested
- Modified ketogenic diets
- 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.
Modified ketogenic dietsOther
Different diet composition
| Study group | Role | What they receive |
|---|---|---|
| diet 1 | Experimental | 60% fat, 15% protein, 25% carbohydrates Receives: Other: Modified ketogenic diets |
| diet 2 | Experimental | 70% fat, 15% protein, 15% carbohydrates Receives: Other: Modified ketogenic diets |
| diet 3 | Experimental | 80% fat, 15% protein, 5% carbohydrates Receives: Other: Modified ketogenic diets |
What is being measured
The primary outcome is the main question the study is designed to answer.
Heart rate
heart rate during constant load cycling exercise
Measured: 2 times
Secondary outcomes (6)
Compliance
Dietary diary to evaluate compliance and diet acceptability
Measured: 3 weeks
indirect calorimetry
Oxidation rates measured via indirect calorimetry during constant load cycling calorimetry
Measured: 2 times
level of ketosis
Ketone bodies in the blood
Measured: daily
Safety parameters
Blood samples
Measured: 2 times
Perceived exertion
Borg scale during constant load cycling
Measured: 2 times
other blood samples
Cholesterol, fatty acids, hormones, ammonia
Measured: 2 times
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Feb 2019
- Study start16 Feb 2019
- Primary completion1 May 2019
- Study completion8 May 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for McArdle 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- Open interventional study to investigate the effects of 3 different ketogenic diet regimes
- Masking
- None (open label)
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nicoline Løkken, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03843606
- Sponsor's protocol ID
- H-18013022
- Status last verified
- May 2019
- First submitted
- 12 Dec 2018
- Last updated
- 10 May 2019
- Results posted
- No
- Data monitoring committee
- Yes
- 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 10 May 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Modified Ketogenic Diet in Patients With McArdle Disease Part A - a Pilot Study
- ClinicalTrials.gov ID
- NCT03843606
- Acronym / sponsor ID
- H-18013022
- Conditions
- McArdle Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- 16 Feb 2019 (actual)
- Primary completion
- 1 May 2019 (actual)
- Study completion
- 8 May 2019 (actual)
- First posted
- 18 Feb 2019 (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.
McArdle disease, glycogen storage disease type V, is a rare metabolic disease. Affected individuals are unable to utilize sugar stored as glycogen in muscle.
We hypothesize that a modified ketogenic diet could be a potential treatment option, by providing ketones as alternative fuel substrates for working muscle.
In this open interventional pilot study we wish to investigate 3 different modified ketogenic diet regimes, to find an optimal composition of a modified ketogenic diet that ensures adequate degree of ketosis and at the same time is well tolerated for patients with McArdle disease.
Detailed description
Open interventional study to investigate 3 different modified ketogenic diet regimes, to find an optimal composition of a modified ketogenic diet for patients with McArdle disease
McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in muscle, leading to exercise intolerance, exercise-induced muscle pain, contractures and rhabdomyolysis, which may cause renal failure. Currently, there are no satisfactory treatment options for McArdle disease. Ketones are feasible fuel alternatives to muscle glycogen when muscle glycogenolysis is blocked as in McArdle disease.
A key element of alleviating symptoms in McArdle disease is to provide alternative fuels for energy metabolism. Ketosis can potentially provide alternative fuel substrates by provision of endogenous ketone bodies (KBs) which are desirable fuels for skeletal muscle and brain. Ketosis can be reached by fasting and can be induced by adhering to a modified ketogenic diet, which entails a high-fat, low-carbohydrate diet, which simulates the metabolic effects of fasting.
The optimal modified ketogenic diet composition, that ensures adequate degree of ketosis and at the same time is well tolerated, has not been investigated in patients with McArdle disease. Therefore this pilot study seeks to investigate which of 3 different diets is the most optimal ad effective for patients with McArdle disease. The 3 different diets will have carbohydrate percentages ranging from 5-25%, and fat percentage from 60-80%.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
- Model description
- Open interventional study to investigate the effects of 3 different ketogenic diet regimes
| Arm | Type | Receives |
|---|---|---|
| diet 1 | Experimental | Other: Modified ketogenic diets60% fat, 15% protein, 25% carbohydrates |
| diet 2 | Experimental | Other: Modified ketogenic diets70% fat, 15% protein, 15% carbohydrates |
| diet 3 | Experimental | Other: Modified ketogenic diets80% fat, 15% protein, 5% carbohydrates |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Genetically confirmed GSDV
- Patient is willing and able to provide written informed consent prior to participation.
- Patient is ambulatory.
- Women in fertile age must be willing to practice the following medically acceptable methods of birth control
Key exclusion criteria (4 listed)
- Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements.
- Pregnancy or breastfeeding
- Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments
- Patients with porphyria or disorders of fat metabolism (primary carnitine deficiency, carnitine palmitoyltransferase I or II, β-oxidation defects etc.).
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 |
|---|---|---|
| Modified ketogenic dietsDifferent diet composition | Other | diet 1, diet 2, diet 3 |
Primary outcome
Heart rate
Time frame: 2 times
heart rate during constant load cycling exercise
6 secondary outcomes
Compliance
Time frame: 3 weeks
indirect calorimetry
Time frame: 2 times
level of ketosis
Time frame: daily
Safety parameters
Time frame: 2 times
Perceived exertion
Time frame: 2 times
other blood samples
Time frame: 2 times
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 10 May 2019.
- Individual participant dataSharing planned: No
Related trials for McArdle Disease
Active, not recruitingObservational study
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.
Pompe Disease, McArdle Disease
Active, not recruitingObservational study
Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases
Glycogen Storage Disease, McArdle Disease
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?
A study testing Modified ketogenic diets in people with 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 4 inclusion and 4 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 10 May 2019. 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?
Heart rate (time frame: 2 times). 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 10 May 2019.