Natural history of boys with Duchenne muscular dystrophy (DMD) measured by timed function tests and mechanography

Abstract-Text (inkl. Referenzen)

Introduction: Clinical trials targeting cohorts of boys with DMD over a several years are necessary to evaluate disease progression and drug efficacy. Boys with DMD often have gross motor delays early in life, and although they gain skills, they are on a lower trajectory than typical peers. In early school age losing of motor skills and later loss of ambulation are the natural course of the disease. In this study, we demonstrated natural history of boys with DMD (non-treated, treated with corticosteroids/ataluren) measured by timed function tests and mechanography.

Methods: We define the natural history in boys with DMD aged from 3.1 to 18 years using the 6-minute walk test (6MWT), 10-meter run, time to stand up from a supine position and climb four stairs. Additionally, mechanography measured force in chair rising and jumping. Assessments were completed as standard of care during regularly scheduled clinic visits.

Results: 77 boys with DMD were evaluated up to 21 follow up measurements available. Test battery included 6MWT (N=416), 10-m run (N=446), stand up from supine (N=13), climb four stairs (N=450), chair rising (N=228) and single two-legged jump (N=219). Longitudinal data are presented by age as a whole and in subcohorts of treated (corticosteroids, ataluren) and non-treated patients.

Conclusions: Our study documents the natural history in a large cohort of boys with DMD. These data will be useful to compare ongoing and future therapeutic interventions for DMD.