Abstract
A Prospective Longitudinal Observational Study in Myotonic Dystrophy Type One: From Clinical Outcomes to Trial Design (P8-9.003)
Neurology, Vol.106(11_Supplement_1)
06/09/2026
DOI: 10.1212/WNL.0000000000215044
Abstract
Objective
The END-DM1 study is an international prospective longitudinal study involving adult with DM1 to establish biomarkers and clinical endpoints using harmonized protocols and procedures. Here we seek to determine the burden of disease and select endpoints for clinical trials.
Background
Myotonic dystrophy type 1 (DM1) is among the most variable of diseases, with a wide range of disease burden. Large cohorts are required to assess the variable disease burden to determine appropriate endpoints for clinical trials and to standardize trial site processes.
Design/Methods
Individuals with DM1 who were older than 18 were enrolled in a 24-month observational study. Measures of cognition, quantitative muscle strength, motor function (e.g., 10 MWT, 6 MWT), myotonia, cardiac arrhythmias, pulmonary function, and quality of life were collected. The medical history and age of onset were collected at baseline. A subset of the cohort had muscle biopsies to assess the degree of RNA mis-splicing.
Results
700 adults with DM1 were enrolled and the baseline results are presented here. The mean age of the participants was 44 years old, and the mean age of onset was 25. Of the participants, 0.33% were non-ambulatory. Strong associations were identified between measures of muscle strength and motor function, while weak associations were identified with myotonia. The cohort had a wide range of performance on the cogstate, a measure of cognition, with some performing above average. Approximately 1/3 of the cohort had arrhythmias identified on the electrocardiogram.
Conclusions
The Myotonic Dystrophy Clinical Research Network (DMCRN) proves to be a valid framework to collect clinical and demographic data from a large international cohort of adults with DM1. It allows to compare differences between cohorts and to identify potential fast progressors and most sensitive outcomes that may need to be accounted for in the design of future clinical trials.
Details
- Title: Subtitle
- A Prospective Longitudinal Observational Study in Myotonic Dystrophy Type One: From Clinical Outcomes to Trial Design (P8-9.003)
- Creators
- Valeria Sansone - Centro Clinico NemoCarola Ferrari Aggradi - University of MilanAndrea Lizio - Centro Clinico NemoMichela Nani - University of MilanJeanne Dekdebrun - University of RochesterKaty Eichinger - University of RochesterCynthia Gagnon - Université de SherbrookeS Subramony - University of FloridaRichard Roxburgh - Auckland City HospitalJohanna Hamel - University of RochesterJeffrey Statland - University of Kansas Medical CenterKarlien Mul - Radboud University NijmegenBaziel van Engelen - Radboud University NijmegenBakri Elsheikh - The Ohio State University Wexner Medical CenterWilliam ArnoldChris Turner - University College LondonBenedikt Schoser - Friedrich Baur StiftungThomas Ragole - University of Colorado DenverEmma Matthews - Atkins (United Kingdom)Jacinda Sampson - Stanford UniversityMassanori Takahashi - The University of OsakaMatthew Wicklund - The University of Texas at San Antonio Health Science CenterAndrea Swenson - University of IowaChamindra Laverty - UC San Diego Health SystemPerry Shieh - UCLA HealthEricka GreeneMan Hung - Roseman University of Health SciencesRuby Langeslay - Virginia Commonwealth UniversityJennifer Raymond - Virginia Commonwealth UniversityCharles Thornton - University of Rochester Medical CenterNicholas Johnson - Virginia Commonwealth University
- Resource Type
- Abstract
- Publication Details
- Neurology, Vol.106(11_Supplement_1)
- DOI
- 10.1212/WNL.0000000000215044
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 06/09/2026
- Academic Unit
- Neurology
- Record Identifier
- 9985180941802771
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