The FSHD Composite Outcome Measure (FSHD-COM) is Reliable, Valid, and Measures Disease Progression
Katy Eichinger1, Michael McDermott1, Kiley Higgs2, Michaela Walker2, Leann Lewis1, William Martens1, Doris Leung3, Nikia Stinson3, Megan M Holzer3, Sabrina Sacconi4, Jeremy Garcia4, Victor De Paz Benito4, Karlien Mul5, Valeria Sansone6, Elena Carraro6, Stefano Becchiati6, Maria Chiara Frisoni6, Leo Wang7, Catherine Kieu7, Perry Shieh8, Christy Skura8, Bakri Elsheikh9, Kristina Kelly9, Andrea Jaworek9, Samantha LoRusso10, Russell Butterfield11, Amelia Wilson11, Melissa McIntyre11, Nicholas Johnson12, Amanda Butler12, Aileen Jones12, Melissa Hayes2, Lindsay Baker1, Sandhya Sasidharan2, Alrabi Tawil1, Jeffrey Statland2
1University of Rochester Medical Center, 2University of Kansas Medical Center, 3Kennedy Krieger Institute, 4Nice University, 5Radboud University, 6The NEMO Clinical Center - Neurorehabilitation Unit, University of Milan, 7University of Washington, 8UCLA, 9The Ohio State University Wexner Medical Center, 10Kaiser, 11University of Utah, 12Virginia Commonwealth University
Objective:
To document the reliability, validity and sensitivity of the FSHD Composite Outcome Measure
Background:
Standardized clinical outcome assessments may serve as endpoints for late phase FSHD clinical trials. The FSHD-COM is a 13 item composite measure that assesses the functional impact of the disease by measuring areas that have been identified as meaningful to individuals with FSHD.
Design/Methods:
Individuals with FSHD participating in the multi-site, international ReSolve Study were assessed using the FSHD-COM at baseline, 3, 12, 18 and 24 months. The FSHD-COM was performed twice over consecutive days at baseline to examine the test-retest reliability. Manual muscle testing (MMT) and the FSHD Clinical Score were also performed to examine validity. Longitudinal analyses will be used to examine the change over time of the FSHD-COM items and total score.
Results:
237 participants (56% male) with a mean age of 50.3 (range 19-75) years completed baseline assessments. The interclass correlation coefficient for the total FSHD-COM score was 0.98 with individual items ranging from 0.85-0.99. The FSHD-COM score was correlated to overall MMT (ρ=0.89; p=0.001) and the FSHD clinical score (ρ=0.82; p=0.001). Change in the FSHD-COM score at 12, 18 and 24 months will be presented.
Conclusions:
The FSHD-COM score can be administered reliably in a multi-site study. Concurrent validity is supported by the correlations between the FSHD-COM score and measures of disease severity. The final analysis examining the responsiveness will be discussed.