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You can search the Clinical Trials registry for research that has reached the stage of a clinical trial. Use search terms to focus the results on current studies of relevance to you.
The following studies and trials relevant to Muscle GSD are currently in progress and expected to report soon.
Unless stated otherwise, papers and links are in English.
A ROWING ERGOMETRY TEST FOR ASSESSMENT OF VO2 PEAK IN MCARDLE DISEASE
Brunel University London
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 in this population. 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 would serve the further purpose of identifying areas for future development of individual health whilst also educating the sufferer. There is considerable potential, therefore, to further improve function, well-being and quality of life.
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. This can then be used to identify differences in conditioning between upper and lower body musculature and so develop a plan to improve individual function, well being and quality of life. There are several steps which now need to follow: test-retest to establish reliability of the protocol, testing of multiple individuals to develop a database of VO2peak data for rowing in McArdle.
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.
INVESTIGATION OF THE EXISTENCE AND CHARACTERISTICS OF A “THIRD WIND” PHENOMENON IN MCARDLE DISEASE
Brunel University, London
Individuals with McArdle disease have an impaired carbohydrate metabolism which limits their physical activity capacity, especially at the beginning of activity and during anaerobic exercise. Second wind is a well established phenomenon in this muscle myopathy and is characterized by a sudden decrease in heart rate and improvement in activity tolerance at approximately 8-10 min of low intensity exercise. Some patients have reported that prolonged exercise of more than 2 hours results in another improvement in activity tolerance, which anecdotally has been coined ‘third wind’. This study aimed to explore this phenomenon by exercising McArdle patients on a treadmill for 2.5 continuous hours and compare the findings with a pathology-free control group.
A PHASE II PILOT STUDY TO EXPLORE TREATMENT WITH SODIUM VALPROATE IN ADULTS WITH MCARDLE DISEASE
London and Copenhagen
McArdle disease is a metabolic myopathy characterized by the absence of glycogen phosphorylase in skeletal muscle. Sodium Valproate is part of a group of drugs known as histone deacetylase inhibitors, which have a direct effect on chromatin. Recently a drug trial in an animal model of McArdle disease showed that sodium valproate stimulated the expression of a different isoform of the missing enzyme in skeletal muscle.
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.
MODIFIED KETOGENIC DIET IN PATIENTS WITH MCARDLE DISEASE (PART B)
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.
REN001: 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.
THE EFFECT OF TRIHEPTANOIN IN ADULTS WITH MCARDLE DISEASE
Copenhagen and Paris
In other metabolic diseases studies of Triheptanoin diet have shown that Triheptanoin increased metabolism of both fat and sugar, and had a positive effect on physical performance and reduced the level of symptoms. However, in McArdle’s the interpretation of the findings was negative: “Despite increased resting plasma malate with Triheptanoin, the increase was insufficient to generate a normal TCA turnover during exercise and the treatment has no effect on exercise capacity or oxidative metabolism 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.