Study to Test Possible Biomarker for Myopathy Associated With Mitochondrial Disease

According to a story from, the Children’s Hospital of Philadelphia is sponsoring a study that has the potential to make mitochondrial disease research and drug development much easier. The goal of the study is to investigate the efficacy of an oxygen nanosensor as a biomarker for mitochondrial myopathy, a disorder of muscle fibers that can appear in patients with mitochondrial disease. The lack of effective biomarker has made the results of previous studies of treatment difficult to validate.

About Mitochondrial Disease

Mitochondrial diseases are a group of genetic disorders that causes the mitochondria not to function properly. The mitochondria are an essential organelle that is found in most types of cells in the body, with red blood cells being the only exception. They are responsible for generating energy for the cell. Mitochondrial diseases are usually caused by mutations of the mitochondrial DNA or the nuclear DNA. Symptoms tend to be the worst when the issue affects cells that use a lot of energy, such as the muscles or parts of the brain. These symptoms affect many aspects of bodily function and include poor growth, poor muscle coordination, dementia, neurological issues, muscle weakness, breathing disorders, vision problems, digestive disorders, hearing problems, disease of the kidney, liver, and heart, and learning disabilities. Treatment options are limited in number and in their effectiveness. To learn more about mitochondrial diseases, click here.

About The Study

The study is expected to include a total of 24 participants, which will include mitochondrial disease patients with symptoms of myopathy and a control group of healthy volunteers. The study will investigate the potential of an electrochemical nanosensor that will measure oxygen levels in the muscle tissue of the participants. Oxygen levels have been demonstrated in prior research to be a useful measure of mitochondrial activity and function. 

The nanosensor will test oxygen levels during baseline activity, while the participants are performing handgrip exercises, and after exercise is completed. The ultimate goal of the study will be to determine if the nanosensor is capable of distinguishing between mitochondrial disease patients and the unaffected volunteers. 

If the nanosensor is successful, it could be used in future trials as a biomarker for the disease.

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