MRI in McArdle Disease V1.0
Research type
Research Study
Full title
Muscle MRI in patients with McArdle Disease (Glycogen storage disease type V)
IRAS ID
274003
Contact name
Shpresa Pula
Contact email
Sponsor organisation
UCLH/UCL Joint Research Office
Clinicaltrials.gov Identifier
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
Research Summary
McArdle disease is a rare muscle disorder. In this disease, the muscle cells can’t break down a complex sugar called glycogen. It is part of a group of diseases called glycogen storage diseases. Another name is glycogen storage disease type 5 (GSD 5 or GSD V).The cells use a simple sugar called glucose, for energy. When we eat, blood glucose levels rise, and our body removes this extra glucose from the blood to stabilize the blood glucose level. Our body converts the excess glucose into glycogen. It stores it in the liver, muscles, and other places in the body. Glycogen is a form of energy storage. The muscle cells need a constant supply of glucose to keep working well. In McArdle disease, the muscles can't break down the saved up glycogen. That's because an important substance needed for that process is missing from the muscle cell. This means muscles can't use the stored glycogen to get the glucose they need. The missing substance in muscles is an enzyme called myophosphorylase. An enzyme is a substance that helps speed up chemical reactions in the body. This may make it hard to exercise without becoming tired and having muscle pain.
The study's main purpose is to describe the degree of muscle wasting and changes in muscle fat composition in patients with McArdle disease. The study will be conducted using the specific sequences of the muscle MRI and assessing paraspinal (back) muscles, shoulder girdle and muscles on lower limb extremities.
In addition, the aim is also:
1. To investigate muscle strength- by examining the patients and using specifically designed scores (Medical Research Council- MRC) score
2. On those with weak back muscles to investigate the symptoms and complete the standardized questionnaires on back pain.Summary of Research
Our study shows that, in GSD 5 patients, the paraspinal muscles exhibit more fat replacement compared to the lower extremity muscles, with a stronger correlation with age, denoting continuous muscle degeneration and highlighting the need for early targeted rehabilitation. Conversely, no relevant correlation was found between lower back pain and fat replacement in the paraspinal muscles at L4 level. Paraspinal weakness/atrophy, however, can lead to back pain.REC name
Yorkshire & The Humber - Sheffield Research Ethics Committee
REC reference
22/YH/0084
Date of REC Opinion
19 Apr 2022
REC opinion
Further Information Favourable Opinion