Biomarkers are substances in the body that can be used as an indicator of disease. They can be used to help doctors diagnose a disease and monitor how it is progressing. Biomarkers can also be used to see how well the body responds to a treatment.  At this time new and exciting therapeutic treatments are emerging for DM1 and it is important to have reliable biomarkers in place for use in well designed and thorough clinical trials.

Molecules that can act as biomarkers can be different types of protein and RNA. These can both be found in blood and urine so samples can easily be obtained and analysed.

 

OPTIMISTIC aims to:

  • Analyse blood and urine samples to find and validate biomarkers in DM1.
  • Use magnetic resonance to find and evaluate biomarkers in muscles.
  • Use bioinformatics tools to compare biomarkers with other neuromuscular disorders.