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Modified Ketogenic Diet in Patients With McArdle Disease Part A

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ClinicalTrials.gov Identifier: NCT03843606
Recruitment Status : Completed
First Posted : February 18, 2019
Last Update Posted : May 10, 2019
Sponsor:
Information provided by (Responsible Party):
Nicoline Løkken, Rigshospitalet, Denmark

Brief 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.

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.


Condition or disease Intervention/treatment Phase
McArdle Disease Other: Modified ketogenic diets Not Applicable

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%.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 11 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Intervention Model Description: Open interventional study to investigate the effects of 3 different ketogenic diet regimes
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Modified Ketogenic Diet in Patients With McArdle Disease Part A - a Pilot Study
Actual Study Start Date : February 16, 2019
Actual Primary Completion Date : May 1, 2019
Actual Study Completion Date : May 8, 2019


Arm Intervention/treatment
Experimental: diet 1
60% fat, 15% protein, 25% carbohydrates
Other: Modified ketogenic diets
Different diet composition

Experimental: diet 2
70% fat, 15% protein, 15% carbohydrates
Other: Modified ketogenic diets
Different diet composition

Experimental: diet 3
80% fat, 15% protein, 5% carbohydrates
Other: Modified ketogenic diets
Different diet composition




Primary Outcome Measures :
  1. Heart rate [ Time Frame: 2 times ]
    heart rate during constant load cycling exercise


Secondary Outcome Measures :
  1. Compliance [ Time Frame: 3 weeks ]
    Dietary diary to evaluate compliance and diet acceptability

  2. indirect calorimetry [ Time Frame: 2 times ]
    Oxidation rates measured via indirect calorimetry during constant load cycling calorimetry

  3. level of ketosis [ Time Frame: daily ]
    Ketone bodies in the blood

  4. Safety parameters [ Time Frame: 2 times ]
    Blood samples

  5. Perceived exertion [ Time Frame: 2 times ]
    Borg scale during constant load cycling

  6. other blood samples [ Time Frame: 2 times ]
    Cholesterol, fatty acids, hormones, ammonia



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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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.).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03843606


Locations
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Denmark
Copenhagen Neuromuscular Center, Rigshospitalet
Copenhagen, Denmark
Sponsors and Collaborators
Rigshospitalet, Denmark
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Responsible Party: Nicoline Løkken, MD, PhD-student, Rigshospitalet, Denmark
ClinicalTrials.gov Identifier: NCT03843606    
Other Study ID Numbers: H-18013022
First Posted: February 18, 2019    Key Record Dates
Last Update Posted: May 10, 2019
Last Verified: May 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Glycogen Storage Disease Type V
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases