INTRODUCTION: We developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprising patient-identified areas of functional burden for future clinical trials. METHODS: We performed a prospective observational study of 41 patients with FSHD at 2 sites. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. We determined the test-retest reliability and convergent validity compared to established FSHD disease metrics. RESULTS: The FSHD-COM demonstrated excellent test-retest reliability (intraclass correlation coefficient [ICC] 0.96; subscale ICC range, 0.90-0.94). Cross-sectional associations between the FSHD-COM and disease duration, clinical severity, and strength were moderate to strong (Pearson correlation coefficient range |0.51-0.92|). DISCUSSION: The FSHD-COM is a disease-relevant, functional composite outcome measure suitable for future FSHD clinical trials that shows excellent test-retest reliability and cross-sectional associations to disease measures. Future directions include determining multisite reliability, sensitivity to change, and the minimal clinically important change in the FSHD-COM. Muscle Nerve, 2018.
INTRODUCTION: We developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprising patient-identified areas of functional burden for future clinical trials. METHODS: We performed a prospective observational study of 41 patients with FSHD at 2 sites. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. We determined the test-retest reliability and convergent validity compared to established FSHD disease metrics. RESULTS: The FSHD-COM demonstrated excellent test-retest reliability (intraclass correlation coefficient [ICC] 0.96; subscale ICC range, 0.90-0.94). Cross-sectional associations between the FSHD-COM and disease duration, clinical severity, and strength were moderate to strong (Pearson correlation coefficient range |0.51-0.92|). DISCUSSION: The FSHD-COM is a disease-relevant, functional composite outcome measure suitable for future FSHD clinical trials that shows excellent test-retest reliability and cross-sectional associations to disease measures. Future directions include determining multisite reliability, sensitivity to change, and the minimal clinically important change in the FSHD-COM. Muscle Nerve, 2018.
Authors: Karlien Mul; Tatiana Hamadeh; Corinne G C Horlings; Rabi Tawil; Jeffrey M Statland; Sabrina Sacconi; Alastair J Corbett; Nicol C Voermans; Catharina G Faber; Baziel G M van Engelen; Ingemar S J Merkies Journal: Eur J Neurol Date: 2021-05-02 Impact factor: 6.089
Authors: Jeffrey M Statland; Craig Campbell; Urvi Desai; Chafic Karam; Jordi Díaz-Manera; Jeffrey T Guptill; Lawrence Korngut; Angela Genge; Rabi N Tawil; Lauren Elman; Nanette C Joyce; Kathryn R Wagner; Georgios Manousakis; Anthony A Amato; Russell J Butterfield; Perry B Shieh; Matthew Wicklund; Josep Gamez; Cynthia Bodkin; Alan Pestronk; Conrad C Weihl; Juan J Vilchez-Padilla; Nicholas E Johnson; Katherine D Mathews; Barry Miller; Ashley Leneus; Marcie Fowler; Marc van de Rijn; Kenneth M Attie Journal: Muscle Nerve Date: 2022-05-09 Impact factor: 3.852
Authors: Samantha LoRusso; Nicholas E Johnson; Michael P McDermott; Katy Eichinger; Russell J Butterfield; Elena Carraro; Kiley Higgs; Leann Lewis; Karlien Mul; Sabrina Sacconi; Valeria A Sansone; Perry Shieh; Baziel van Engelen; Kathryn Wagner; Leo Wang; Jeffrey M Statland; Rabi Tawil Journal: BMC Neurol Date: 2019-09-10 Impact factor: 2.474