NCT04292938

McArdle Disease Treatment by Ketogenic Diet

Completed NA Last updated 26 August 2021

What this trial tests

NA trial testing Low carbohydrate ketogenic diet in Glycogen Storage Disease in 16 participants. Completed in 30 June 2021.

Timeline

25 March 2019

Primary endpoint
31 December 2020

30 June 2021

Quick facts

Lead sponsor	IRCCS Eugenio Medea
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	single
Primary purpose	treatment
Enrollment	16
Start date	25 March 2019
Primary completion	31 December 2020
Estimated completion	30 June 2021
Sites	1 location across Italy

Drugs / interventions tested

• Low carbohydrate ketogenic diet

Conditions studied

• Glycogen Storage Disease — all drugs for Glycogen Storage Disease →

Sponsor

IRCCS Eugenio Medea — full company profile →

Who can join

18 and older, any sex, with Glycogen Storage Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial.
   Martinuzzi A, Musumeci O, Stefan C, Vinante E, et al · · 2025 · PMID 41094169 · DOI 10.1007/s00415-025-13405-5