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McArdle Disease Treatment by Ketogenic Diet

NCT04292938 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 16

Last updated 2021-08-26

No results posted yet for this study

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

Conditions

  • Glycogen Storage Disease

Interventions

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

Sponsors & Collaborators

  • University of Pisa

    collaborator OTHER

  • University of Messina

    collaborator OTHER

  • IRCCS Eugenio Medea

    lead OTHER

Principal Investigators

  • Andrea Martinuzzi, MD, PhD · IRCCS E Medea

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
SINGLE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-03-25
Primary Completion
2020-12-31
Completion
2021-06-30

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04292938 on ClinicalTrials.gov