Abstract

Contemporary natural history data in Duchenne muscular dystrophy (DMD) is needed to assess care recommendations and aid in planning future trials. Methods: The Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 individuals, aged 2-28 years, with DMD in a longitudinal, observational study at 20 centers. Assessments obtained every 3 months for 1 year, at 18 months, and annually thereafter included: clinical history; anthropometrics; goniometry; manual muscle testing; quantitative muscle strength; timed function tests; pulmonary function; and patient-reported outcomes/health-related quality-of-life instruments. Results: Glucocorticoid (GC) use at baseline was 62% present, 14% past, and 24% GC-naive. In those ≥6 years of age, 16% lost ambulation over the first 12 months (mean age 10.8 years). Conclusions: Detailed information on the study methodology of the CINRG DMD-NHS lays the groundwork for future analyses of prospective longitudinal natural history data. These data will assist investigators in designing clinical trials of novel therapeutics.

Original languageEnglish
Pages (from-to)32-54
Number of pages23
JournalMuscle and Nerve
Volume48
Issue number1
DOIs
StatePublished - 1 Jul 2013
Externally publishedYes

Funding

FundersFunder number
National Center for Advancing Translational SciencesUL1TR000448

    Keywords

    • Adolescent
    • Adult
    • Child/preschool
    • Follow-up study
    • Health status
    • Human
    • Locomotion
    • Male
    • Muscle strength/physiology
    • Muscular dystrophies/Duchenne/physiopathology
    • Muscular dystrophies/classification
    • Muscular dystrophies/therapy
    • Phenotype
    • Quality of life/psychology
    • Respiratory function test

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