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CURRENT RESEARCH

The following studies and trials relevant to Muscle GSD are currently in progress and expected to report soon. 

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.

THE EFFECT OF TRIHEPTANOIN IN ADULTS WITH MCARDLE DISEASE

Copenhagen and Paris

Studies on Triheptanoin diet used in patients with other metabolic diseases have shown that Triheptanoin can increase metabolism of both fat and sugar. In these patients, Triheptanoin has had a positive effect on the physical performance and has reduces the level of symptoms experienced by patients.

FAT AND SUGAR METABOLISM DURING EXERCISE IN PATIENTS WITH METABOLIC MYOPATHY

Copenhagen

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 AT MCARDLE SUFFERERS

Bochum, Germany

A small clinical trial is underway 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 will be assessed following three intervals: one week ketogenic diet; one week aerobic training; and one week combination of ketogenic training and aerobic training. 

BIO MARKER FOR GLYCOGEN STORAGE DISEASE (BIOGLYCOGEN)

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 rhe 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.  

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