Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy
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MEETING REPORTS
Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy Molly White1 Received: 2 October 2019 / Accepted: 6 December 2019 © The Author(s) 2020
Abstract Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are multisystem, genetic disorders caused by repeat expansions on chromosome 19 (DM1) and chromosome 3 (DM2). Although the effects of DM on the skeletal, cardiac, and smooth muscles, as well as the endocrine and central nervous systems, can be disabling, there are no disease-modifying therapies for the disorder. Following a process established by the US Food and Drug Administration (FDA) in 2012 known as the Patient-Focused Drug Development (PFDD) Initiative, Myotonic (formerly the Myotonic Dystrophy Foundation) has been conducting patient- and caregiver-inclusive sessions to explore disease burden as defined by patients and caregivers, and what affected individuals want most from potential new therapies. In September 2017, at Myotonic’s annual conference, a session titled “Bringing the Patient Voice to CNS-Targeting Drug Development in Myotonic Dystrophy” attracted some 350 members of the DM community. During the session, patients and caregivers described CNS disease symptoms, their impact on quality of life, and potential CNS-related targets that they considered important for drug development consideration. These included fatigue and daytime sleepiness; dysregulated sleep; cognitive deficits such as “brain fog,” memory and focus impairment, learning and attention difficulties, and time management challenges; emotional/psychological/behavioral difficulties, including impulsivity, apathy, antisocial behavior, personality changes, and depression; social difficulties, including disconnection, lack of awareness, and feelings of isolation; and general anxieties about the future and potential loss of independence. Improvements in memory and lessening of “brain fog” were considered particularly important. Keywords myotonic dystrophy · PFDD · CNS · endpoint
Introduction Myotonic dystrophy (DM), the most common type of adultonset muscular dystrophy with a population-based prevalence of 1:2300 (myotonic dystrophy type 1, Johnson 2018), is a progressive genetic disorder that affects multiple systems in the body, including the central nervous system (CNS) [1]. Given the lack of FDA-approved therapies, the need is great for therapies that will slow, halt or reverse the disease, or provide meaningful relief from its debilitating symptoms. In September 2016, Myotonic (formerly the Myotonic Dystrophy Foundation) convened a patient-focused drug development meeting to help researchers, regulators, and drug developers understand the burdens and symptoms of * Molly White [email protected] 1
Myotonic Dystrophy Foundation, 1004A O’Reilly Avenue, San Francisco, CA, USA 94129
DM and their impacts on patients’ daily lives, as well as patients’ assessments of clinically meaningful benefit of future approaches to treating and managing DM. This m
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