Jeffrey M Statland1,2, Bharati Shah2, Don Henderson2, Silvere Van Der Maarel3, Stephen J Tapscott4, Rabi Tawil2. 1. Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA. 2. Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA. 3. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. 4. Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Abstract
INTRODUCTION: As we move toward planning for clinical trials in facioscapulohumeral muscular dystrophy (FSHD), a better understanding of the clinical relationship with morphological changes in FSHD muscle biopsies will be important for stratifying patients and understanding post-therapeutic changes in muscle. METHODS: We performed a prospective cross-sectional study of quadriceps muscle biopsies in 74 genetically confirmed FSHD participants (64 with FSHD type 1 and 10 with FSHD type 2). We compared a 12-point muscle pathology grade to genetic mutation, disease severity score, and quantitative myometry. RESULTS: Pathology grade had moderate correlations with genetic mutation (rho = -0.45, P < 0.001), clinical severity score (rho = 0.53, P < 0.001), disease duration (rho = 0.31, P = 0.03), and quantitative myometry (rho = -0.47, P < 0.001). We found no difference in the frequency of inflammation between FSHD types 1 and 2. CONCLUSIONS: The pathology grade of quadriceps muscle may be a useful marker of disease activity in FSHD, and it may have a role in stratification for future clinical trials.
INTRODUCTION: As we move toward planning for clinical trials in facioscapulohumeral muscular dystrophy (FSHD), a better understanding of the clinical relationship with morphological changes in FSHD muscle biopsies will be important for stratifying patients and understanding post-therapeutic changes in muscle. METHODS: We performed a prospective cross-sectional study of quadriceps muscle biopsies in 74 genetically confirmed FSHDparticipants (64 with FSHD type 1 and 10 with FSHD type 2). We compared a 12-point muscle pathology grade to genetic mutation, disease severity score, and quantitative myometry. RESULTS: Pathology grade had moderate correlations with genetic mutation (rho = -0.45, P < 0.001), clinical severity score (rho = 0.53, P < 0.001), disease duration (rho = 0.31, P = 0.03), and quantitative myometry (rho = -0.47, P < 0.001). We found no difference in the frequency of inflammation between FSHD types 1 and 2. CONCLUSIONS: The pathology grade of quadriceps muscle may be a useful marker of disease activity in FSHD, and it may have a role in stratification for future clinical trials.
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