好色先生

好色先生

Explore the latest content from across our publications
Join The AAN

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Evaluating Functional Changes and Outcome Measure Responsiveness in Limb Girdle Muscular Dystrophy: A 12-month Analysis of the 10-meter Run Time, NSAD, and PUL
Neuromuscular and Clinical Neurophysiology (EMG)
S7 - Updates on Muscle Disorders (3:42 PM-3:54 PM)
002
Evaluate the relationship between changes in patient-reported and functional outcome measures in patients with limb girdle muscular dystrophies (LGMD).
Several clinical assessments have been validated in LGMD, supporting their use as potential therapeutic endpoints. However, understanding the relationship between patient-reported and functional outcomes is essential for interpreting the clinical meaningfulness of change. This study evaluates the relationship between patient-reported and functional outcome measure changes across multiple assessments in individuals with LGMD.
Patients with genetically confirmed LGMD (n=86) completed functional assessments including the NorthStar Ambulatory Assessment (NSAD), Performance of Upper Limb (PUL), and 10-meter run, in addition to reported outcome measures including the Limb-Girdle Muscular Dystrophy Health Index (LGMD-HI). Patients were classified as improved/stable or declined based on change in reported outcomes between baseline and 12 months. Mean changes in functional outcomes based on patient-report grouping were then evaluated.
86 patients (31 LGMDR9, 24 LGMDR1, 10 LGMDR12, 7 LGMDD1, 3 LGMDR2, 7 LGMDR3, 4 LGMDR5; mean age 31.7 years, range 6-64) completed baseline and 12-month visits. Mean 12-month change in the cohort was 1.9-point decrease on the NSAD, 1.4-point decrease on the PUL, and 0.6-second increase in 10 meter run time. Preliminary analysis of participants reporting decline on LGMD-HI item “limited mobility” at 12 months showed a 0.6-second increase in 10m run time and a 2.0-point decrease on the NSAD. In those reporting decline on LGMD-HI item “problems in shoulders/arms,” at 12 months, mean PUL decreased by 0.5 points.
Several clinical outcome measures detect decline in motor function over 12 months in LGMD. Patient perception of decline is associated with clinically observed change. These findings provide initial evidence of the magnitude of change in functional outcome measures that is meaningful to patients.
Authors/Disclosures
Roshni Patel
PRESENTER 		Ms. Patel has nothing to disclose.
Lindsay N. Alfano, PT (Nationwide Children'S Hospital) Ms. Alfano has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for ATOM International, Ltd (Amicus Therapeutics, Catabasis, Genethon, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics). Ms. Alfano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta Therapeutics. The institution of Ms. Alfano has received research support from Novartis Gene Therapies. The institution of Ms. Alfano has received research support from Sarepta Therapeutics. The institution of Ms. Alfano has received research support from Audentes Therapeutics/Astellas Gene Therapies. Ms. Alfano has received intellectual property interests from a discovery or technology relating to health care.
Tahseen Mozaffar, MD, FAAN (University of California Irvine) Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion Pharmaceuticals. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Argenx. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Amicus. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Grifols. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Astellas Gene Therapy. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Bayer. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Applied Therapeutics. The institution of Dr. Mozaffar has received research support from NIH. The institution of Dr. Mozaffar has received research support from Muscular Dystrophy Association. The institution of Dr. Mozaffar has received research support from Sanofi. The institution of Dr. Mozaffar has received research support from Argenx. The institution of Dr. Mozaffar has received research support from Amicus Therapeutics. The institution of Dr. Mozaffar has received research support from Astellas Gene Therpay. The institution of Dr. Mozaffar has received research support from Cartesian. The institution of Dr. Mozaffar has received research support from Cabaletta. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH.
Katherine D. Mathews, MD, FAAN (University of Iowa - Dept of Pediatrics) Dr. Mathews has received personal compensation for serving as an employee of Avidity Bioscience. The institution of Dr. Mathews has received research support from NIH. The institution of Dr. Mathews has received research support from Centers for Disease Control and Prevention. The institution of Dr. Mathews has received research support from Muscular Dystrophy Association . The institution of Dr. Mathews has received research support from Friedreich's Ataxia Research Alliance . The institution of Dr. Mathews has received research support from Sarepta . The institution of Dr. Mathews has received research support from Pfizer. The institution of Dr. Mathews has received research support from Reata . The institution of Dr. Mathews has received research support from PTC Therapeutics, Inc. The institution of Dr. Mathews has received research support from Italfarmaco . The institution of Dr. Mathews has received research support from AMO. The institution of Dr. Mathews has received research support from FibroGen. The institution of Dr. Mathews has received research support from Capricor. The institution of Dr. Mathews has received research support from edgewise. The institution of Dr. Mathews has received research support from biogen.
Conrad Weihl, MD, PhD (Washington University in St. Louis) Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Casma therapeutics. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abata. Dr. Weihl 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. Weihl 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. Weihl has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Acceleron. Dr. Weihl has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Wilson Elser Moskowitz Edelman & Dicker LLP.
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 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 $500-$4,999 for serving as a Consultant for Kate Therapeutics. Dr. Statland has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vita Therapeutics. 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. 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 Vertex . 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.
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 Harmony Biosciences. The institution of Dr. Leung has received research support from Edgewise Therapeutics. The institution of Dr. Leung has received research support from F. Hoffmann-La Roche AG. The institution of Dr. Leung has received research support from Asklepios BioPharmaceutical, Inc.. The institution of Dr. Leung has received research support from Avidity Biosciences. The institution of Dr. Leung has received research support from Virginia Commonwealth University. The institution of Dr. Leung has received research support from Seattle Children's Hospital.
Peter B. Kang, MD, FAAN (University of Minnesota Medical School) Dr. Kang has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurogene. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for ITF Therapeutics (Italfarmaco). An immediate family member of Dr. Kang has received personal compensation in the range of $0-$499 for serving as a Consultant for Life Sciences Consultants. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for MLAB Biosciences. Dr. Kang has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley. Dr. Kang has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for 好色先生. The institution of Dr. Kang has received research support from Xtraordinary Joy Foundation. The institution of an immediate family member of Dr. Kang has received research support from Sarepta Therapeutics. The institution of Dr. Kang has received research support from Centers for Disease Control and Prevention (CDC). The institution of Dr. Kang has received research support from National Institutes of Health (NIH). The institution of Dr. Kang has received research support from Food and Drug Administration. The institution of Dr. Kang has received research support from National Initiative for Cockayne Syndrome. The institution of Dr. Kang has received research support from Greg Marzolf Jr Foundation. The institution of Dr. Kang has received research support from Sarepta Therapeutics. The institution of Dr. Kang has received research support from Duchenne UK - PPMD. The institution of an immediate family member of Dr. Kang has received research support from Regenerative Medicine MN. The institution of an immediate family member of Dr. Kang has received research support from Greg Marzolf Jr Foundation. The institution of an immediate family member of Dr. Kang has received research support from NIH. The institution of an immediate family member of Dr. Kang has received research support from Viljem Julijan Association for Children with Rare Disease. The institution of Dr. Kang has received research support from Minnesota Partnership. Dr. Kang has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Kang has received intellectual property interests from a discovery or technology relating to health care. Dr. Kang has received publishing royalties from a publication relating to health care. Dr. Kang has a non-compensated relationship as a Medical Advisory Board with Speak Foundation that is relevant to AAN interests or activities. Dr. Kang has a non-compensated relationship as a President (Including President-Elect and Past President) with Child Neurology Society that is relevant to AAN interests or activities. Dr. Kang has a non-compensated relationship as a Board Member with Child Neurology Foundation that is relevant to AAN interests or activities.
Zineb Ammous, MD Dr. Ammous has received personal compensation in the range of $0-$499 for serving as a Consultant for Mirum . Dr. Ammous has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Mirum. Dr. Ammous has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Mirum.
Stacy E. Dixon, MD (University of Colorado) The institution of Dr. Dixon 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. The institution of Dr. Dixon has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for CSL Behring. The institution of Dr. Dixon 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. The institution of Dr. Dixon has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Dixon has received publishing royalties from a publication relating to health care.
Jordi Diaz-Manera (Newcastle University) Jordi Diaz-Manera has nothing to disclose.
S H. Subramony, MBBS, FAAN (University of Florida) 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. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Subramony has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Fulcrum. 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. The institution of Dr. Subramony has received research support from Avidity. The institution of Dr. Subramony has received research support from PTC. The institution of Dr. Subramony has received research support from Biohaven. The institution of Dr. Subramony has received research support from Fulcrum. The institution of Dr. Subramony has received research support from Vertex. The institution of Dr. Subramony has received research support from Arthrex.
Matthew P. Wicklund, MD, FAAN (UT Health San Antonio) 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.
Nicholas E. Johnson, MD, FAAN (Virginia Commonwealth University) Dr. Johnson has received personal compensation in the range of $5,000-$9,999 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 Avidity. Dr. Johnson has received personal compensation in the range of $100,000-$499,999 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 Rgenta. 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 Argenx. Dr. Johnson 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 Evolyra Therapeutics . Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. Dr. Johnson has stock in Evolyra 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. The institution of Dr. Johnson has received research support from Avidity Biosciences. The institution of Dr. Johnson has received research support from Edgewise. Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.
Michael Kiefer, PhD, PT Dr. Kiefer has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for BridgeBio. Dr. Kiefer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena Theraputics.