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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.
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
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| There is no intervention, as this is a survey study | Other | Survey |
| Measure | Description | Time Frame |
|---|---|---|
| Questions on experiences with a ketogenic diet | Survey | Baseline |
| IPAQ (INTERNATIONAL PHYSICAL ACTIVITY QUESTIONNAIRE) short form | Survey | Baseline |
| MFI-20 (MULTIDIMENSIONAL FATIGUE INVENTORY) | Survey | Baseline |
| ISI (insomnia severity index) | Survey | Baseline |
| MGQOL 15 score (Myasthenia Gravis Quality Of Life) | Survey | Baseline |
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Inclusion Criteria:
Exclusion Criteria:
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McArdle disease
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Copenhagen Neuromuscular Center, Rigshospitalet | Copenhagen | Denmark |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 34269712 | Derived | 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. |
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| ID | Term |
|---|---|
| D006012 | Glycogen Storage Disease Type V |
| ID | Term |
|---|---|
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
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| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |