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Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort
Author(s) -
Willcocks Rebecca J.,
Rooney William D.,
Triplett William T.,
Forbes Sean C.,
Lott Donovan J.,
Senesac Claudia R.,
Daniels Michael J.,
Wang DahJyuu,
Harrington Ann T.,
Tennekoon Gihan I.,
Russman Barry S.,
Finanger Erika L.,
Byrne Barry J.,
Finkel Richard S.,
Walter Glenn A.,
Sweeney H. Lee,
Vandenborne Krista
Publication year - 2016
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24599
Subject(s) - duchenne muscular dystrophy , medicine , subclinical infection , magnetic resonance imaging , cohort , prospective cohort study , biceps , ambulatory , cohort study , cardiology , surgery , radiology
Objective The aim of this study was to describe Duchenne muscular dystrophy (DMD) disease progression in the lower extremity muscles over 12 months using quantitative magnetic resonance (MR) biomarkers, collected across three sites in a large cohort. Methods A total of 109 ambulatory boys with DMD (8.7 ± 2.0 years; range, 5.0–12.9) completed baseline and 1‐year follow‐up quantitative MR imaging (transverse relaxation time constant; MRI‐T 2 ), MR spectroscopy (fat fraction and 1 H 2 O T 2 ), and 6‐minute walk test (6MWT) measurements. A subset of boys completed additional measurements after 3 or 6 months. Results MRI‐T 2 and fat fraction increased significantly over 12 months in all age groups, including in 5‐ to 6.9‐year‐old boys. Significant increases in vastus lateralis (VL) fat fraction were observed in 3 and 6 months. Even in boys whose 6MWT performance improved or remained stable over 1 year, significant increases in MRI‐T 2 and fat fraction were found. Of all the muscles examined, the VL and biceps femoris long head were the most responsive to disease progression in boys with DMD. Interpretation MR biomarkers are responsive to disease progression in 5‐ to 12.9‐year‐old boys with DMD and able to detect subclinical disease progression in DMD, even within short (3–6 months) time periods. The measured sensitivity of MR biomarkers in this multicenter study may be critically important to future clinical trials, allowing for smaller sample sizes and/or shorter study windows in this fatal rare disease. Ann Neurol 2016;79:535–547