OBJECTIVE: With drug trials starting soon, responsive, relevant, and patient-friendly biomarkers are highly needed in facioscapulohumeral dystrophy (FSHD). Our objective was to assess muscle ultrasound (MUS) as an imaging biomarker in patients with FSHD. METHODS: One-year observational, longitudinal study of both quantitative and qualitative MUS changes in FSHD. RESULTS: Twenty-two patients with symptomatic FSHD1 underwent a clinical examination and MUS at baseline and after 1-year follow-up. The qualitative MUS sum score increased from 18.59 to 20.32 (p = 0.005) and the quantitative MUS sum z scores increased from 19.96 to 24.72 (p = 0.003). The clinical scores did not change over 1 year. Muscle echogenicity correlated with the FSHD clinical score at baseline (r = 0.61, p = 0.002). CONCLUSIONS: MUS shows a significant increase in echogenicity in FSHD over 1 year. Both quantitative and qualitative MUS correlate cross-sectionally with clinical severity in FSHD and identify structural muscle changes in a clinically stable group of patients. MUS thus seems a potentially responsive biomarker that could be standardized between centers. We recommend its use in therapeutic trials. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in patents with FSHD1, MUS findings correlate with baseline FSHD clinical scores.
OBJECTIVE: With drug trials starting soon, responsive, relevant, and patient-friendly biomarkers are highly needed in facioscapulohumeral dystrophy (FSHD). Our objective was to assess muscle ultrasound (MUS) as an imaging biomarker in patients with FSHD. METHODS: One-year observational, longitudinal study of both quantitative and qualitative MUS changes in FSHD. RESULTS: Twenty-two patients with symptomatic FSHD1 underwent a clinical examination and MUS at baseline and after 1-year follow-up. The qualitative MUS sum score increased from 18.59 to 20.32 (p = 0.005) and the quantitative MUS sum z scores increased from 19.96 to 24.72 (p = 0.003). The clinical scores did not change over 1 year. Muscle echogenicity correlated with the FSHD clinical score at baseline (r = 0.61, p = 0.002). CONCLUSIONS: MUS shows a significant increase in echogenicity in FSHD over 1 year. Both quantitative and qualitative MUS correlate cross-sectionally with clinical severity in FSHD and identify structural muscle changes in a clinically stable group of patients. MUS thus seems a potentially responsive biomarker that could be standardized between centers. We recommend its use in therapeutic trials. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in patents with FSHD1, MUS findings correlate with baseline FSHD clinical scores.
Authors: Jildou N Dijkstra; Rianne J M Goselink; Nens van Alfen; Imelda J M de Groot; Maaike Pelsma; Nienke van der Stoep; Thomas Theelen; Baziel G M van Engelen; Nicol C Voermans; Corrie E Erasmus Journal: Neurology Date: 2021-10-21 Impact factor: 9.910
Authors: Juerd Wijntjes; Joris van der Hoeven; Christiaan G J Saris; Jonne Doorduin; Nens van Alfen Journal: Muscle Nerve Date: 2022-07-16 Impact factor: 3.852