What is OPTMISTIC?
Other alms of OPTIMISTIC
Other alms of OPTIMISTIC
OPTIMISTIC will look at many aspects of myotonic dystrophy in order to better understand the condition and to improve care and management internationally.
OPTIMISTIC hopes to better prepare the field for future clinical trials and investigations; working towards clinical trial readiness for DM1 across Europe.
Abnormal heart rhythm (e.g. heart block) is often seen as a symptom of DM1. The exact cause of this arrhythmia has been the subject of much research and it is thought to be myocardial fibrosis. This is when there is a problem with the heart’s muscle cells which causes hardening or scarring of heart tissue. Heart muscle cells (myocytes) are replaced with tissue that cannot contract properly and this stops the heart from beating regularly.
These cardiac complications are serious and can lead in most severe cases to the death of the person affected. Currently there are no agreed recommendations on when, how often or to what extent people with DM1 should be monitored for heart abnormalities by their doctors.
DM1 is caused by an expansion of DNA: this means that a specific triplet sequence is repeated too many times in the DMPK gene. The varying severity in people with DM1 can be explained through genetic diagnosis; For example the greater the size of the expansion (or repeat number) the more severe the symptoms are. In addition, the size of the DNA expansion increases with age making it hard to assess how the disease will progress. The severity of the disease can be best determined by the expansion size at the onset of the disease.
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.
Outcome measures are the tests used to decide whether a treatment being tested in a trial is having any effect. Using the right outcome measure is vital to making sure a trial can accurately assess whether or not a treatment works. They can be a physical test for example how far someone can walk or a biological indicator (biomarker) for example a specific molecule in the blood. The varied and complex nature of the condition increases the challenge in validating outcome measures for DM1.