Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Preliminary Baseline Characteristics (S7.004) (2023)

<h3>Objective:</h3> The MOVE FSHD study aims to determine the predictive value of clinical and motor assessments, patient-reported outcomes, imaging, and tissue biomarkers on disease progression in FSHD. <h3>Background:</h3> To date, most FSHD studies evaluating risk of functional outcomes or relationship between genetics and age at onset have been cross sectional - few evaluated longitudinal risk of functional motor outcomes, or risk factors for FSHD. A more comprehensive study tying motor functional performance, biomarkers, or changes in performance to life-modifying outcomes would be important not only for improving patient care, but to understand what kind of change would be meaningful for clinical trials. <h3>Design/Methods:</h3> Evaluate 450 FSHD participants over three years with 200 participating in an MRI and muscle biopsy sub-study to validate FSHD evaluations. Annual visits collect FSHD history, physical examination, patient reported outcomes, strength, timed functional tasks, and respiratory parameters. Sub-study participants will have additional biomarkers collected, including whole-body MRI at Baseline and 12-month visits with muscle biopsy occurring at Baseline and (n=40) at 4-month visits. <h3>Results:</h3> The MOVE FSHD study has over 215 participants across 12 US sites who have completed their Baseline visit, more than 50 have returned for annual follow-up visits and sites have also begun enrolling MOVE+ sub-study participants. Our cohort is predominantly non-Hispanic white with 58% being male, 88% FSHD Type 1, and 92% are ambulatory. We currently have 12 individuals enrolled under the age of 18. Lastly, 50 of our previous 161 US participants from the ReSolve FSHD study have enrolled in the MOVE study with the remainder expected to roll-over within the next 1–2 years. <h3>Conclusions:</h3> MOVE FSHD addresses barriers to clinical trials by validating motor, clinical, and patient reported outcomes, as well as potential biomarkers. The data from MOVE FSHD can also improve our understanding of FSHD and directly impact patient care. <b>Disclosure:</b> Miss Walker has nothing to disclose. 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 Avexis. 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 Biogen. 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 Aavanti Bio. 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. Dr. Day has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Affinia Therapeutics. Dr. Day has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis Gene Therapy. Dr. Day has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Day has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche/Genentech. Dr. Day has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Day 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. Day 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. Day has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Muscular Dystrophy Association. The institution of Dr. Day has received research support from Audentes. The institution of Dr. Day has received research support from Novartis Gene Therapy. The institution of Dr. Day has received research support from Biogen. The institution of Dr. Day has received research support from Cytokinetics. The institution of Dr. Day has received research support from Roche/Genentech. The institution of Dr. Day has received research support from Sanofi/Genzyme. The institution of Dr. Day has received research support from Sarepta. The institution of Dr. Day has received research support from Scholar Rock. Dr. Day has received intellectual property interests from a discovery or technology relating to health care. Ms. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Fulcrum. Ms. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Avidity. Ms. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for DyneTherapeutic. Ms. Eichinger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Roche. Ms. Eichinger has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for FSHD Society. The institution of Ms. Eichinger has received research support from Charcot Marie Tooth Association. 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. Seth Friedman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Fulcrum Therapeutics. Seth Friedman has received research support from NIH. Dr. Genge has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for AL-S Pharma. Dr. Genge has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Genge has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Cytokinetics. Dr. Genge has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Amylyx. Dr. Genge has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Quralis. Dr. Genge has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Genge has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MTPA. Dr. Genge has received personal compensation in the range of $0-$499 for serving as a Consultant for WAVE. Kiley Higgs has nothing to disclose. 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 $500-$4,999 for serving as a Consultant for Triplet Therapuetics. 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 Acceleron. 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 $10,000-$49,999 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 on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Johnson has stock in ML Bio. The institution of Dr. Johnson has received research support from AveXis. The institution of Dr. Johnson has received research support from Fulcrum. 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 Vertex . The institution of Dr. Johnson has received research support from Triplet Therapeutics. 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 Entrada . Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care. Dr. Jones has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Fulcrum Therapeutics. Dr. Jones has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum Therapeutics. Dr. Jones has stock in Fulcrum Therapeutics. Dr. Jones has stock in Renogenyx, Inc. An immediate family member of Dr. Jones has stock in Renogenyx, Inc. The institution of Dr. Jones has received research support from FSHD Canada Research Foundation. The institution of Dr. Jones has received research support from Friends of FSH Research. The institution of Dr. Jones has received research support from The Chris Carrino Foundation for FSHD. The institution of Dr. Jones has received research support from FSHD Global Research Foundation. The institution of Dr. Jones has received research support from The National Institutes of Health. Dr. Jones has received intellectual property interests from a discovery or technology relating to health care. Dr. Jones has received intellectual property interests from a discovery or technology relating to health care. Dr. Jones has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Jones has received intellectual property interests from a discovery or technology relating to health care. 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. Leann Lewis has nothing to disclose. Dr. Lochmuller has nothing to disclose. The institution of Dr. O’Ferrall has received research support from Sanofi Genzyme. The institution of Dr. O’Ferrall has received research support from Harmony Biosciences. The institution of Dr. O’Ferrall has received research support from Fulcrum Therapeutics. The institution of Dr. O’Ferrall has received research support from Roche Pharmaceuticals. Dr. O’Ferrall has received publishing royalties from a publication relating to health care. William Martens has nothing to disclose. The institution of Dennis W. Shaw, MD has received research support from Friends of FSHD Research. 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 $5,000-$9,999 for serving as a Consultant for PTC. Dr. Shieh has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Pfizer. 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 $5,000-$9,999 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 Avexis. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Fallonmedica. The institution of Dr. Subramony has received research support from Reata. The institution of Dr. Subramony has received research support from Retrotope. The institution of Dr. Subramony has received research support from Acceleron. The institution of Dr. Subramony has received research support from Biohaven. The institution of Dr. Subramony has received research support from Pharnext. The institution of Dr. Subramony has received research support from Fulcrum. The institution of Dr. Subramony has received research support from National Ataxia Foundation. The institution of Dr. Subramony has received research support from Friedreich Ataxia Research Alliance. The institution of Dr. Subramony has received research support from Muscular Dystrophy Association. The institution of Dr. Subramony has received research support from Univ of Rochester, MDA. The institution of Dr. Subramony has received research support from Virginia Commonwealth Univ (FDA, Wyck Foundation)). The institution of Dr. Subramony has received research support from Children’s Hospital, Philadelphia (FDA). The institution of Dr. Subramony has received research support from Houston Methodist (NIH). The institution of Dr. Subramony has received research support from NIHR01 AR076060-01A1 . The institution of Dr. Subramony has received research support from NIH2R42HD089804-04 . The institution of Dr. Subramony has received research support from NIH R01 AR056973 . The institution of Dr. Subramony has received research support from FSHD Society. The institution of Dr. Subramony has received research support from AAVANTI BIO. The institution of Dr. Subramony has received research support from COHAV FL State Dept of Health. Dr. Trivedi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. The institution of Dr. Trivedi has received research support from NIH. 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. Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus Therapeutics. Dr. Wicklund has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi-Genzyme. Dr. Wicklund 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 Therapeutics. Dr. Wicklund has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Spark Therapeutics. Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ultragenyx. Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vertex Pharmaceuticals. The institution of Dr. Wicklund has received research support from Orphazyme. The institution of Dr. Wicklund has received research support from Muscular Dystrophy Association. The institution of Dr. Wicklund has received research support from Coalition to Cure Calpain 3. The institution of Dr. Wicklund has received research support from Sarepta Therapeutics. The institution of Dr. Wicklund has received research support from ML Bio. The institution of Dr. Wicklund has received research support from Alexion. The institution of Dr. Wicklund has received research support from Acceleron. The institution of Dr. Wicklund has received research support from Edgewise. The institution of Dr. Wicklund has received research support from Fulcrum. The institution of Dr. Wicklund has received research support from Roche-Genentech. The institution of Dr. Wicklund has received research support from Avidity. Dr. Wicklund has received research support from Harmony Bioscience. 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. 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.