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McArdle Disease Treatment by Ketogenic Diet

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04292938
Recruitment Status : Recruiting
First Posted : March 3, 2020
Last Update Posted : March 18, 2020
University of Pisa
University of Messina
Information provided by (Responsible Party):
IRCCS Eugenio Medea

Brief Summary:
McArdle's disease or Glycogen storage disease type 5 (GSD5), the most common muscle glycogenosis, is a rare disabling condition with no effective treatment. There are indications that a special dietary regimen could positively influence the disease manifestations. After contradictory indications for protein rich vs carbohydrate rich diets, several preliminary studies and more and more patients own experiences are now pointing to a low carbohydrate ketogenic diet (LCKD) as possibly effective in improving exercise tolerance and reducing muscle damage. The investigators propose a multicentre randomized single blind controlled trial testing efficacy of an individualized LCKD in GSD5. The investigators will test the ability of a 6 months dietary regimen with a 3:1 LCKD inducing a BOHB blood concentration of 1.5-4 mmol/l to improve the aerobic capacity as measured by peak VO2 at exercise testing in GSD5 patients. Thirty molecularly defined MCA adults will be enrolled: to half of them randomly selected the dietary regimen will be prescribed, while subjects in the control group will follow their usual balanced diet. The evaluators will be blinded to the diet followed by the examined patient

Condition or disease Intervention/treatment Phase
Glycogen Storage Disease Dietary Supplement: Low carbohydrate ketogenic diet Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Intervention Model Description: Randomised controlled single blind
Masking: Single (Outcomes Assessor)
Masking Description: The assessors will be blinded as to the dietary regimen followed by the patient
Primary Purpose: Treatment
Official Title: Ketogenic Diet in McArdle Disease: a Multicentric Single Blind Controlled Trial
Actual Study Start Date : March 25, 2019
Estimated Primary Completion Date : December 31, 2020
Estimated Study Completion Date : June 30, 2021

Arm Intervention/treatment
Active Comparator: Ketogenic diet
patients will follow a low carbohydrate high lipid personalized diet causing blood BOHB level to be between 1.5-4 mmol/l for six months
Dietary Supplement: Low carbohydrate ketogenic diet
Dietary modification, including the use of supplements, with the aim of reaching a lipid/carbohydrate-protein 3:1 ratio with a minimum 1g/Kg/die in protein
Other Name: Ketogenic

No Intervention: control group
Patients will be asked to maintain their usual dietary regimen

Primary Outcome Measures :
  1. Change in maximal (peak) oxidative capacity (VO2max) [ Time Frame: six months ]
    pre to post diet comparison of maximal O2 consumption attained during an incremental cycle ergometer test

Secondary Outcome Measures :
  1. heart rate [ Time Frame: six months ]
    change in the maximum heart rate during constant load cycling exercise (HR const)

  2. maximal workload [ Time Frame: six months ]
    change in maximal workload capacity (Wmax) at incremental cycle ergometer test

  3. 12 min walking test [ Time Frame: six months ]
    the maximum walking distance in 12 minutes

  4. Fatigue [ Time Frame: six months ]
    self-rated severity of fatigue symptoms on a Fatigue Severity Scale (FSS). The FSS scoring is 1-7 on 9 averaged domains. 1 is minimal fatigue and 7 is maximal.

  5. Short Form 36 (SF36) [ Time Frame: six months ]
    the quality of life assessed using the 36-item Short Form Health Survey questionnaire (SF36). SF36 scoring is 0-100 with higher values indicating worse outcome

  6. Disability [ Time Frame: six months ]
    the functional disability assessed using the WHO Disability Assessment Schedule 2.0 (WHODAS 2.0). WHO-DAS 2.0 scoring is 0-100 with higher scores indicating worse outcome

  7. exertion [ Time Frame: six months ]
    the rate of Perceived Exertion during constant workload cycling (RPEconst) scored on a NRS scale 0-10 where 10 is maximum pain

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • molecularly defined Glycogen storage disease type 5, ability to perform a cycle ergometer exercise test

Exclusion Criteria:

  • pregnancy,
  • medical condition preventing a LCKD regimen (CPT2 or acyl-CoA deficiency, liver heart or kidney failure, unstable diabetes).

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 identifier (NCT number): NCT04292938

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Contact: Arianna Ferrati, PT 003904384141 ext 268
Contact: Cristina Stefan, MD 003904389062 ext 312

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IRCCS Medea Recruiting
Conegliano, Treviso, Italy, 31015
Contact: Andrea Martinuzzi, MD PhD    003904384141 ext 296   
Contact: Arianna Ferrati, PT    003904384141 ext 268   
Sponsors and Collaborators
IRCCS Eugenio Medea
University of Pisa
University of Messina
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Principal Investigator: Andrea Martinuzzi, MD, PhD IRCCS E Medea
Publications of Results:

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Responsible Party: IRCCS Eugenio Medea Identifier: NCT04292938    
Other Study ID Numbers: 543
First Posted: March 3, 2020    Key Record Dates
Last Update Posted: March 18, 2020
Last Verified: March 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Anonymised data might be loaded on the European registry for muscle glycogenoses (EUROMAC)

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