Learnings from Patient-Report Workshop on Disease Progression in Myotonic Dystrophy

For researchers, pharmaceutical companies, and regulatory agencies involved in the development of treatments that slow or stop disease progression, the highly variable and unpredictable progression of symptoms in myotonic dystrophy (DM) makes it difficult to assess whether an intervention provides clinically-meaningful benefit on disease progression for patients. In evaluating the effectiveness of treatments, drug developers and regulators need to understand what triggers progression, since the presence or absence of triggers may influence symptoms in ways that could complicate the assessment of progression. To better understand disease burden and what people living with DM view as meaningful benefits, Myotonic (formerly Myotonic Dystrophy Foundation) convened a meeting based on the US Food and Drug Administration's Patient-focused Drug Development initiative, at the Myotonic Annual Conference in September 2018. Over 300 people living with DM met to share with regulators and drug developers how disease progression has affected their lives and what they would consider to be the most beneficial treatment effects of progression-targeting therapies. A panel of five adults with DM (three with DM1 and two with DM2) was asked to describe when disease symptoms took a turn for the worse, what seemed to trigger disease progression, what treatment approaches have proven useful, and what characteristics panel participants most desire in a new treatment. Audience members were then invited to share their experiences. Specific triggers of progression vary from person to person, even within a single family. Among the triggers most frequently cited by meeting participants were physical and emotional stress, lack of sleep, illness, injury, surgery, pregnancy, overdoing it, and lack of activity. Illness in general was said to trigger symptoms. Slowing or stopping disease progression is viewed by people with DM as the most important objective of therapy.