Clinical trial NCT04694547: Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)
Official title: Ketogenic Diet Survey in GSDV
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: McArdle Disease
Lead sponsor: Rigshospitalet, Denmark
Sponsor class: OTHER
First posted: 2021-01-05
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Maximum age (years): 100
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: McArdle disease

Brief 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.

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

Eligibility criteria: Inclusion Criteria:

* Verified GSDV diagnosis

Exclusion Criteria:

* Age under 18 years

Primary outcomes:
measure: Questions on experiences with a ketogenic diet
timeFrame: Baseline
measure: IPAQ (INTERNATIONAL PHYSICAL ACTIVITY QUESTIONNAIRE) short form
timeFrame: Baseline
measure: MFI-20 (MULTIDIMENSIONAL FATIGUE INVENTORY)
timeFrame: Baseline
measure: ISI (insomnia severity index)
timeFrame: Baseline
measure: MGQOL 15 score (Myasthenia Gravis Quality Of Life)
timeFrame: Baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Copenhagen
country: Denmark
facility: Copenhagen Neuromuscular Center, Rigshospitalet
Study officials:
References:
citation: 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.