Ketogenic Diet Survey in Patients With McArdle Disease (GSDV)

NCT ID: NCT04694547

Last Updated: 2023-02-13

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 200 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-01-10
• Study Completion Date: 2022-12-01

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

Conditions

McArdle Disease

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: CROSS_SECTIONAL

Interventions

There is no intervention, as this is a survey study

Survey

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Verified GSDV diagnosis

Exclusion Criteria

• Age under 18 years

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Nicoline Løkken

OTHER

Sponsor Role: lead

Responsible Party

Nicoline Løkken

Principal Investigator, MD

Responsibility Role: SPONSOR_INVESTIGATOR

Locations

Copenhagen Neuromuscular Center, Rigshospitalet

Copenhagen, , Denmark

Countries

Denmark

References

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.

Reference Type: DERIVED

PMID: 34269712 (View on PubMed)

Other Identifiers

Ketogenic diet survey in GSDV

Identifier Type: -

Identifier Source: org_study_id