Abstract Details

Title The FSHD Composite Outcome Measure (FSHD-COM) is Reliable, Valid, and Measures Disease Progression

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) S7 - Outcome Measures and Observational Studies of Neuromuscular Diseases (4:18 PM-4:30 PM)

Poster/Presentation
Number 005

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.

Objective To document the reliability, validity and sensitivity of the FSHD Composite Outcome Measure

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.

Authors/Disclosures
Katy Eichinger, PhD, PT, DPT, NCS (University of Rochester) PRESENTER	Dr. Eichinger has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Fulcrum. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Avidity. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for DyneTherapeutic. Dr. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Roche. Dr. Eichinger has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for FSHD Society. The institution of Dr. Eichinger has received research support from Charcot Marie Tooth Association.
Michael McDermott	No disclosure on file
	No disclosure on file
Michaela Walker, MPH, CCRP (University of Kansas Medical Center)	Miss Walker has nothing to disclose.
Leann Lewis	Leann Lewis has nothing to disclose.
William Martens (University of Rochester)	William Martens has nothing to disclose.
Doris G. Leung, MD (Kennedy Krieger Institute)	The institution of Dr. Leung has received research support from US Department of Defense. The institution of Dr. Leung has received research support from Fulcrum Therapeutics. The institution of Dr. Leung has received research support from ML Bio Solutions, Inc.. The institution of Dr. Leung has received research support from Sarepta Therapeutics. The institution of Dr. Leung has received research support from Cumberland Pharmaceuticals. The institution of Dr. Leung has received research support from FibroGen Inc.. The institution of Dr. Leung has received research support from Astellas Pharma. The institution of Dr. Leung has received research support from University of Kansas Medical Center Research Institute. The institution of Dr. Leung has received research support from Pfizer, Inc.. The institution of Dr. Leung has received research support from Genethon. The institution of Dr. Leung has received research support from Harmony Biosciences. The institution of Dr. Leung has received research support from Edgewise Therapeutics.
	No disclosure on file
	No disclosure on file
Sabrina Sacconi, MD	Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving as a Consultant for LUPIN. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for SANOFI. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for BIOGEN. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AMICUS. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Pharma. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ALEXION. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for FULCRUM THERAPEUTICS. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for AXELYS. Dr. Sacconi has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for OLOGY. The institution of Dr. Sacconi has received research support from Solve FSHD.
	No disclosure on file
	No disclosure on file
Karlien Mul	The institution of Karlien Mul has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity Biosciences.
Valeria A. Sansone, MD (The NEMO Clinical Center - Neurorehabilitation Unit, University of Milan)	Dr. Sansone has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Leo H. Wang, MD, PhD, FAAN (University of Washington)	Dr. Wang has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for AskBio. Dr. Wang has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Fulcrum Therapeutics. Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mitsubishi Tanabe. Dr. Wang has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Argenx. Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Wang has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. The institution of Dr. Wang has received research support from National Institute of Health. Dr. Wang has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant with US Government.
	No disclosure on file
Perry Shieh, MD, PhD, FAAN (UCLA)	Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sarepta. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genentech. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for CSL Behring. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Grifols. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Alexion. Dr. Shieh has received personal compensation in the range of $50,000-$99,999 for serving on a Speakers Bureau for Biogen. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Genentech. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Argenx. Dr. Shieh has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Catalyst.
	No disclosure on file
Bakri Elsheikh, MD, FAAN (The Ohio State University Wexner Medical Center)	Dr. Elsheikh has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen . Dr. Elsheikh has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Argnex . The institution of Dr. Elsheikh has received research support from Biogen. The institution of Dr. Elsheikh has received research support from Cure SMA.
Kristina M. Kelly, PT (The Ohio State University)	Dr. Kelly has nothing to disclose.
	No disclosure on file
Samantha J. LoRusso, MD (Kaiser)	Dr. LoRusso has nothing to disclose.
Russell Butterfield, MD, PhD, BS (University of Utah)	Dr. Butterfield has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Butterfield has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Butterfield has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Reata. The institution of Dr. Butterfield has received research support from FSHD Society. The institution of Dr. Butterfield has received research support from NIH. The institution of Dr. Butterfield has received research support from Ionis. The institution of Dr. Butterfield has received research support from CDC.
	No disclosure on file
	No disclosure on file
Nicholas E. Johnson, MD, FAAN (Virginia Commonwealth University)	Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta Therapuetics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharma. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for ML BIo . Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Arthex. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Entrada. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Rgenta. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Angle Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AskBio. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum. Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. The institution of Dr. Johnson has received research support from Novartis. The institution of Dr. Johnson has received research support from Takeda . The institution of Dr. Johnson has received research support from AMO Pharma. The institution of Dr. Johnson has received research support from Sarepta. The institution of Dr. Johnson has received research support from Dyne Therapeutics. The institution of Dr. Johnson has received research support from AskBio. The institution of Dr. Johnson has received research support from Pepgen. The institution of Dr. Johnson has received research support from ML Bio. The institution of Dr. Johnson has received research support from Vertex. The institution of Dr. Johnson has received research support from Arthex. Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Alrabi Tawil, MD, FAAN (University of Rochester Medical Center)	Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving as a Consultant for DYNE Therapeutics. Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Arrowhead Pharma. Dr. Tawil has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum Therapeutics. Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Acceleron Pharma. Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for MT Pharma. Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche Pharma. Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for miRecule. The institution of Dr. Tawil has received research support from Friends of FSH Research. The institution of Dr. Tawil has received research support from FSH Society. The institution of Dr. Tawil has received research support from NIH. The institution of Dr. Tawil has received research support from Fulcrum. Dr. Tawil has received intellectual property interests from a discovery or technology relating to health care. Dr. Tawil has received publishing royalties from a publication relating to health care.
Jeffrey Statland, MD (University of Kansas Medical Center)	Dr. Statland has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Arrowhead. Dr. Statland has received personal compensation in the range of $500-$4,999 for serving as a Consultant for ML Bio. Dr. Statland has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MT Pharma. Dr. Statland has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Epic Bio. Dr. Statland has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Armatus . Dr. Statland has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Dyne Therapeutics. Dr. Statland has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Avidity . Dr. Statland has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum Therapeutics. Dr. Statland has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. The institution of Dr. Statland has received research support from NIH. The institution of Dr. Statland has received research support from FSHD Society. The institution of Dr. Statland has received research support from Friends of FSH Research. The institution of Dr. Statland has received research support from FSHD Canada. The institution of Dr. Statland has received research support from MDA.