The trials of muscular dystrophy

DM1 is a form of muscular disorder affecting over 75 000 people in Europe alone. This chronic, inherited, progressive and multi-systemic disease has no cure. DM1 symptoms include severe muscle weakness and cardiovascular disorders.

Currently, treatment focuses on alleviating symptoms through exercise training and cognitive behavioural therapy (CBT). However, health care facilities for DM1 patients and their families are often sub-optimal as the disease is rare.

The EU-funded OPTIMISTIC project is working on improving clinical management of DM1 patients through the development of standardised outcome measures and guidelines. For this purpose, 286 patients will be recruited.

Besides evaluating the efficacy of treatment intervention, efforts will also be made to identify relevant predisposing genetic factors and other potential biomarkers. Fatigue reduction and increase in physical activity will be used as outcome measures.

Project members already achieved significant progress with regard to obtaining requisite approvals, CBT therapist training, harmonisation of outcome measures and developing standard operating procedures. Patient recruitment has already started and trials are in progress in three out of the four sites.

Optimising interventions that combine exercise with CBT should improve patient adherence and enhance their quality of life through better mobility and reduced fatigue. This data could also be extrapolated for research and clinical care of patients suffering from other neuromuscular disorders such as Parkinson's disease.

Trial outcomes will provide enough scientific proof for optimising DM1 management in the clinic. Moreover, the necessary infrastructure for faster assessment of promising putative therapies for DM1 such as antisense oligonucleotide therapies will also be established.