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Abstract Details

Preliminary Twelve-Month Functional Change in Limb Girdle Muscular DystrophyR9/2I
Neuromuscular and Clinical Neurophysiology (EMG)
P13 - Poster Session 13 (8:00 AM-9:00 AM)
11-005
LGMDR9, an autosomal recessive form of LGMD due to mutations in the Fukutin-related protein (FKRP) gene, can lead to loss of ambulation, cardiomyopathy, and respiratory compromise.  Clinical trials for this disease are being planned, but previously reported outcome measures have shown slow progression, a barrier to trial design.  
To determine progression in limb girdle muscular dystrophy R9 (LGMDR9) measured by functional clinical outcome assessments (COAs).

We conducted a prospective observational study of clinically affected, genetically defined LGMDR9 participants at 11 international academic centers. COAs measured at baseline, 6, 9 and 12 months included the 100-meter timed walk, North Star Assessment for LGMD (NSAD), 4-stair climb, Timed Up and Go, Performance of Upper Limb 2.0 (PUL), and handheld dynamometry (HHD) in 6 bilateral upper extremity muscles. Participants were classified as ambulators (A) or difficulty with ambulation (DA) based on a baseline 10-meter walk/run cutoff of 12 seconds. We present mean changes with 95% confidence limits (CL).
Twenty-three participants (52% women) completed 12 months of follow up. Mean age was 30.9 years, mean age of onset was 11.9 years, mean duration was 10.2 years, and 65.2% were homozygous for c.826C>A. The NSAD declined an average of 1.3 points (95% CL 0.3, 2.2) or 10%; the decline was larger for men (15.9%) or DA (18.7%). The PUL was stable (mean loss of 1.1 points or 2.5%; 95% CL -0.2, 2.4), with no differences based on gender, genetics, or ambulatory status. HHD was stable over 12 months, with change ranging from -5.3% to 5.1%. Results from other functional testing with considerations for trial design will be presented.

Preliminary results suggest a functional decline as measured by the NSAD and PUL over 12 months in LGMDR9. Variability estimates for future power calculations will be presented.

 
Authors/Disclosures
Jeffrey Statland, MD (University of Kansas Medical Center)
PRESENTER 		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.
No disclosure on file
No disclosure on file
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.
John Vissing, MD (Rigshospitalet) Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dianthus Therapeutics. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus therapeutics. Prof. Vissing has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sarepta. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Horizon Therapeutics. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis Pharma AG. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genethon. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Biopharma. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Argenx. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alexion Pharmaceuticals. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Lupin. Prof. Vissing has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Edgewise Therapeutics. The institution of Prof. Vissing has received research support from Rigshospitalet. The institution of Prof. Vissing has received research support from UCB Pharma. The institution of Prof. Vissing has received research support from Sanofi. The institution of Prof. Vissing has received research support from NOVO Foundation. Prof. Vissing has received research support from Reneo Pharma. Prof. Vissing has received research support from Janssen Pharmaceuticals.
Tahseen Mozaffar, MD, FAAN (University of California Irvine) Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Alexion Pharmaceuticals. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 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 $500-$4,999 for serving as a Consultant for Amicus. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Modis Therapeutics. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB/ Ra Pharmaceuticals. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Maze Therapeutics. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Spark Therapeutics. Dr. Mozaffar 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. Mozaffar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for National Institutes of Health. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Argenx. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for Neuromuscular Disease Foundation. 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-Genzyme. 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 Spark Therapeutics. The institution of Dr. Mozaffar has received research support from Audentes Therapeutics. The institution of Dr. Mozaffar has received research support from Cartesian. 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.
Linda P. Lowes, PT PhD The institution of Ms. Lowes has received research support from Sarepta Therapeutics.
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.
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.
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.
Peter B. Kang, MD, FAAN (University of Minnesota Medical School) Dr. Kang has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Novartis. Dr. Kang has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sarepta Therapeutics. Dr. Kang has received personal compensation in the range of $500-$4,999 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 NS Pharma. Dr. Kang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Teneofour. 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 $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wiley. 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. 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 received personal compensation in the range of $5,000-$9,999 for serving as a Medical Advisory Board with National Initiative for Cockayne Syndrome. 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 TRIAD Council with Hereditary Neuropathy Foundation that is relevant to AAN interests or activities. Dr. Kang has a non-compensated relationship as a 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.
Carla D. Zingariello, DO (University of Florida) The institution of Dr. Zingariello has received research support from ML Bio. The institution of Dr. Zingariello has received research support from Edgewise Therapeutics.
Urvi G. Desai, MD, FAAN (Dept of Neurology, CMC) Dr. Desai has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Desai 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. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Takeda. Dr. Desai has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Desai 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. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catalyst. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alexion. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Argenx.
No disclosure on file
No disclosure on file
Douglas M. Sproule, MD (MLBioSolutions) Dr. Sproule has received personal compensation for serving as an employee of Bridge Bio. Dr. Sproule has received personal compensation for serving as an employee of Novartis, Inc. Dr. Sproule has received stock or an ownership interest from Bridge Bio.
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