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The following studies and trials relevant to Muscle GSD are currently in progress. Once published we will provide a link on our “Research papers” page. All links are in English unless stated otherwise.
A ROWING ERGOMETRY TEST FOR ASSESSMENT OF VO2 PEAK IN MCARDLE DISEASE
Brunel University, UK
In those individuals with McArdle Disease moderate- to good- conditioning is most often seen in lower body musculature. Testing of VO2peak, a marker of reduced risk for all disease and death, has most often been undertaken for lower body exercise. A test for whole body VO2peak could still identify all-cause health risks whilst also identifying deficits in upper body conditioning specific to McArdle. This work constitutes ‘proof of principle’ by demonstrating that it is possible to have individuals with McArdle Disease exercise to maximal heart rate in whole body exercise on a rowing ergometer without causing any adverse event and successfully obtain VO2peak data.
MODIFIED KETOGENIC DIET IN PATIENTS WITH MCARDLE DISEASE
Copenhagen and London
A placebo-controlled, blind, cross over study to be carried out at two sites: CNMC (Copenhagen), NHNN (London). Subjects will first receive either a modified ketogenic diet (75% fat, 15%protein, 10% carbohydrates) or a placebo diet (>100grams of carbohydrates per day). They will follow the diet for 4 weeks, followed by 2-4 weeks wash-out, followed by 4 weeks on the opposite diet. They will visit the trial site in London five times. Evaluation will be on exercise capacity during submaximal exercise test on a cycle ergometer, and by questionnaires and a dietary diary.
BIO MARKER FOR GLYCOGEN STORAGE DISEASE (BIOGLYCOGEN)
Centogene AG, Rostock, Germany
Development of a new Mass-spectrometry based biomarker for the early and sensitive diagnosis of Glycogen Storage Disease from plasma and saliva. Testing for clinical robustness, specificity and long-term stability of the biomarker.
IamGSD comment: We feel this offers the promise of a quick and easy diagnostic test from a blood sample. Also, in cases of novel mutations it could enable diagnosis without resort to muscle biopsy.
TO EVALUATE THE SAFETY AND TOLERABILITY OF TREATMENT IN PATIENTS WITH MCARDLE DISEASE
London and Madrid
REN001 is a new drug currently under development that has been given to 53 healthy volunteers and 30 obese patients with high lipid levels in controlled clinical trials. REN001 was considered safe and well tolerated. Laboratory and clinical trial data indicated that REN001 improves energy production by mitochondria within muscle cells and may improve muscle function. This is a Phase 1B, 12 week, open-label study to determine whether oral treatment with REN001 is safe and well tolerated in patients with McArdle disease.
FAT AND SUGAR METABOLISM DURING EXERCISE IN PATIENTS WITH METABOLIC MYOPATHY
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
STUDY ON THE EFFECT OF THE KETOGENIC DIET AND AEROBIC SPORTS IN MCARDLE PATIENTS
Bergmannsheil University, Bochum, Germany
A small clinical trial has been undertaken in Germany to clinically assess exercise tolerance and quality of life of individuals with McArdle disease in response to a ketogenic diet and aerobic training. In random order, participants were assessed following three intervals: one week ketogenic diet; one week aerobic training; and one week combination of ketogenic training and aerobic training. We understand that the results were positive for the ketogenic diet, but have not yet seen a formal report.
The study outline is in German.