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. In addition, health care facilities for DM1 patients and their families are often sub-optimal as the disease is rare and the patients are no assertive members of society due to brain and behaviour involvement. The OPTIMISTIC (Observational prolonged trial In myotonic dystrophy type 1 to improve QoL-standards, a target identification collaboration) initiative ran a 16-month randomised trial to assess the effectiveness of cognitive behavioural therapy on activity and participation in severely fatigued adult DM1 patients with genetically confirmed diagnosis compared to usual care. The team ran a 10-month randomised trial with 255 patients suffering from DM1 in four centres in four countries – Germany, France, the Netherlands and the United Kingdom. Participants were followed up for a further six months. At 10 months, participants in the invention group had improved on the DM1-Activ-c scale, the primary outcome, measuring activity and participation. There were also important differences found on other key measures such as the six-minute walk test, the fatigue and daytime sleepiness scale, checklist individual strength subscale fatigue and activity levels (24 hours and most active 5 hours) measured with accelerometry. Participants in the intervention group show an increase in their muscle tissue on quantitative muscle MR imaging, while the progression of fat remains similar to the control group. Besides evaluating the efficacy of treatment intervention, OPTIMISTIC identified relevant predisposing genetic factors and other potential biomarkers. The researchers recorded the number of falls as well as adverse and serious adverse events – mainly cardiac and pulmonary. Overall, in terms of falls with injury, frequency was even in both groups. Results will be made public in a main trial publication. OPTIMISTIC research results show that a behavioural change programme improves participation and activity and reduces fatigue. This approach also improved patient adherence compared to previous experience in this group of patients. This data could be extrapolated for research and clinical care of patients suffering from other disorders such as Parkinson's disease.
Keywords
Trials, muscular dystrophy, DM1, OPTIMISTIC, intervention