Observational Prolonged Trial In Myotonic dystrophy type 1 to Improve Quality of Life Standards, a Target Identification Collaboration

The clinical trial data was generated within the framework of the OPTIMISTIC study, a large international effort focused on myotonic dystrophy type 1 (DM1), a chronic, progressive, multisystem genetic disorder and the most common form of adult muscular dystrophy. DM1 is characterised by severe fatigue, substantial physical impairment, and restricted social participation. To investigate new ways of improving health outcomes, researchers conducted a multicentre, single-blind, randomised trial between 2014 and 2016 at four referral centres in France, Germany, the Netherlands, and the UK. 255 adults with genetically confirmed DM1 and clinically significant fatigue were randomly assigned to receive either individually tailored cognitive behavioural therapy, with the option of adding a graded exercise programme, or standard care alone. In total, 26 outcome measures were collected, covering activity and participation, physical capacity, daily activity, fatigue, sleepiness, quality of life, mood, and cognition. Data were gathered at baseline, after 5 months, at 10 months (the primary trial endpoint), and again at 16 months to assess both immediate and sustained effects. The primary aim was to evaluate whether behavioural interventions could enhance patients’ capacity for activity and social participation, while secondary outcomes provided a broader picture of functional, psychological, and quality of life impacts. This repository contains summarized data from the OPTIMISTIC study, organized in OPTIMISTIC_Phenotype_Data.xlsx, which includes participant characteristics, outcome measures across four time points, details of the Cognitive Behavioural Therapy (CBT) intervention, and accompanying metadata describing all variables. For more details see README.txt.