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2019 Annual Meeting | S23 - Genetic Muscle Disorders

Monday 05/06/19
03:30 PM - 05:30 PM EDT Add To Calendar
This program will be presented both in-person and online
This program is not expected to be available in the meeting's On Demand product.
Scientific Platform Session
Leo H. Wang, MD, PhD, FAAN, Anne M. Connolly, MD, FAAN
Neuromuscular and Clinical Neurophysiology (EMG)
2.00 CME credits

Program Materials Program Evaluations

Event Timeline
03:41 PM - 03:52 PM EDT Abstract 002 - Sensitive Assessment of Duchenne Muscular Dystrophy Progression with a Dedicated Electrical Impedance Myography Device
Seward B. Rutkove, MD, FAAN
03:52 PM - 04:03 PM EDT Abstract 003 - Genetic Prevalence of Myotonic Dystrophy Type 1
Nicholas E. Johnson, MD, FAAN
04:03 PM - 04:14 PM EDT Abstract 004 - Breaking the sound barrier of randomized, controlled trials in congenital myopathies: results of the N-acetylcysteine trial in RYR1-related disorders
Katherine G. Meilleur, PhD, PPCNP-BC
04:14 PM - 04:25 PM EDT Abstract 005 - An Instrumented Timed Up and Go is Sensitive to Progression in Facioscapulohumeral Dystrophy
Jeffrey Statland, MD
04:25 PM - 04:36 PM EDT Abstract 006 - FTX-1821 for Treatment of FSHD at its Root Cause: Results of a Clinical Trial in a Dish
Michelle L. Mellion, MD
04:36 PM - 04:47 PM EDT Abstract 007 - Comparison of Symptom Profile in Patients with SCN4A and CLCN1 Nondystrophic Myotonias
Alayne P. Meyer
04:47 PM - 04:58 PM EDT Abstract 008 - Open-Label Phase 2 Clinical Trial of ManNAc for GNE Myopathy
Nuria Carrillo, MD
04:58 PM - 05:09 PM EDT Abstract 009 - Progressive Degenerative Myofibrillar Myopathy in Knock-In Mice Expressing LDB3 p.A165V Protein: A Mouse Model for Markesbery-Griggs Distal Myopathy
05:10 PM - 05:30 PM EDT Q&A Q&A Panel with Authors
Faculty Disclosures
Leo H. Wang, MD, PhD, FAAN 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 $5,000-$9,999 for serving as a Consultant for Avidity. Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB Pharma. Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Wang has received personal compensation in the range of $10,000-$49,999 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.
Anne M. Connolly, MD, FAAN Dr. Connolly has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Edgewise Therapeutics. Dr. Connolly has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Octapharma. Dr. Connolly 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. Connolly has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Avidity. The institution of Dr. Connolly has received research support from Muscular Dystrophy Association. The institution of Dr. Connolly has received research support from NIH.
No disclosure on file
Melanie Leitner, PhD Dr. Leitner has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Prilenia. Dr. Leitner has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for ALS Investment Fund. Dr. Leitner has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Fundamental Pharma. Dr. Leitner has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Caraway. Dr. Leitner has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Affinia Therapeutics. Dr. Leitner has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Jannsen. Dr. Leitner has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Tolerion/Alpha-5 Integrin. Dr. Leitner has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Verge Genomics. Dr. Leitner has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Tranquis. Dr. Leitner has stock in Bristol Myers Squibb. Dr. Leitner has stock in Editas. Dr. Leitner has stock in Provention Bio. Dr. Leitner has stock in Sanofi. Dr. Leitner has stock in Vertex. Dr. Leitner has stock in GSK. Dr. Leitner has stock in Eledon. Dr. Leitner has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant with ALS Finding a Cure. Dr. Leitner has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant with Charley's Fund.
Jessie Huisinga No disclosure on file
Nicholas E. Johnson, MD, FAAN 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 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 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 Argenx. Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. Dr. Johnson has stock in Myogene Therapies. 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.
Craig M. Zaidman, MD Dr. Zaidman has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for sarepta. The institution of Dr. Zaidman has received research support from Washington University in St Louis. The institution of Dr. Zaidman has received research support from Novartis.
Tanya J. Lehky, MD Dr. Lehky has nothing to disclose.
Carsten G. Bonnemann, MD Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with RYR1 Foundation that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Genethon that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Sarepta Therapeutics that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Kate Therapeutics that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with CureCMD that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Seal Therapeutics that is relevant to AAN interests or activities.
Russell Butterfield, MD, PhD, BS 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 NIH. The institution of Dr. Butterfield has received research support from Ionis. The institution of Dr. Butterfield has received research support from CDC.
Katherine G. Meilleur, PhD, PPCNP-BC No disclosure on file
Jeff Elliott No disclosure on file
Galen Joe No disclosure on file
Samantha J. LoRusso, MD Dr. LoRusso has nothing to disclose.
Alayne P. Meyer No disclosure on file
James Dowling, MD, PhD Dr. Dowling has received personal compensation in the range of $500-$4,999 for serving as a Consultant for GLG. Dr. Dowling has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ikaika Therapeutics. Dr. Dowling has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bain Consulting. Dr. Dowling has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Guidepoint. Dr. Dowling has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for RYR1 Foundation. Dr. Dowling has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Dechert LLP. The institution of Dr. Dowling has received research support from Astellas. The institution of Dr. Dowling has received research support from NIH. The institution of Dr. Dowling has received research support from CIHR. The institution of Dr. Dowling has received research support from Astellas. Dr. Dowling has received personal compensation in the range of $5,000-$9,999 for serving as a advisor with Ontario Ministry of Health.
Ami K. Mankodi, MD, FAAN No disclosure on file
Seward B. Rutkove, MD, FAAN Dr. Rutkove has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Myolex, Inc. Dr. Rutkove 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 American Academy of Neuorlogy . The institution of Dr. Rutkove has received research support from NIH. The institution of Dr. Rutkove has received research support from NASA. The institution of Dr. Rutkove has received research support from Blavatnik Family Foundation. Dr. Rutkove has received intellectual property interests from a discovery or technology relating to health care. Dr. Rutkove has received intellectual property interests from a discovery or technology relating to health care. Dr. Rutkove has received publishing royalties from a publication relating to health care. Dr. Rutkove has received publishing royalties from a publication relating to health care. Dr. Rutkove has received personal compensation in the range of $500-$4,999 for serving as a Grant Reviewer with NIH.
Michele Yang, MD The institution of Dr. Yang has received research support from Janssen. The institution of Dr. Yang has received research support from Edgewise. The institution of Dr. Yang has received research support from ReveraGen.
Brenda L. Wong, MD No disclosure on file
Jessica Witherspoon No disclosure on file
Jeffrey Statland, MD 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.
Bradley Class No disclosure on file
William D. Arnold, MD Dr. Arnold has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Arnold has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for La Hoffmann Roche. Dr. Arnold has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cadent Therapeutics . Dr. Arnold has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Arnold has received research support from NIH. The institution of Dr. Arnold has received research support from NMD Pharma. The institution of Dr. Arnold has received research support from Gilead Sciences. The institution of Dr. Arnold has received research support from CureSMA. Dr. Arnold has received intellectual property interests from a discovery or technology relating to health care.
Alrabi Tawil, MD, FAAN Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Kate Therapeutics. Dr. Tawil has received personal compensation in the range of $500-$4,999 for serving as a Consultant for meRicule. 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.
Basil T. Darras, MD The institution of Dr. Darras has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Darras has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus. The institution of Dr. Darras has received research support from National Institutes of Health/National Institute of Neurological Disorders and Stroke,. The institution of Dr. Darras has received research support from Slaney Family Fund for SMA. The institution of Dr. Darras has received research support from Spinal Muscular Atrophy Foundation. The institution of Dr. Darras has received research support from CureSMA. The institution of Dr. Darras has received research support from Working on Walking Fund . The institution of Dr. Darras has received research support from CHERISH, CS2/CS12 . The institution of Dr. Darras has received research support from Biogen for CS11. The institution of Dr. Darras has received research support from AveXis. The institution of Dr. Darras has received research support from Sarepta Pharmaceuticals. The institution of Dr. Darras has received research support from PTC Therapeutics. The institution of Dr. Darras has received research support from Roche. The institution of Dr. Darras has received research support from Santhera. The institution of Dr. Darras has received research support from Scholar Rock. The institution of Dr. Darras has received research support from Fibrogen. The institution of Dr. Darras has received research support from Summit. Dr. Darras has received publishing royalties from a publication relating to health care. Dr. Darras has received publishing royalties from a publication relating to health care.
Nuria Carrillo, MD No disclosure on file
May Christine Malicdan No disclosure on file
Jennifer A. Roggenbuck, MS, CGC The institution of Ms. Roggenbuck has received research support from Packard Foundation.
Michelle L. Mellion, MD Dr. Mellion has received personal compensation for serving as an employee of PepGen. Dr. Mellion has stock in PepGen.
Diego Cadavid, MD, FAAN Dr. Cadavid has received personal compensation for serving as an employee of Verge Genomics. Dr. Cadavid has received personal compensation for serving as an employee of X4 Pharmaceuticals. Dr. Cadavid has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pheno Therapeutics. Dr. Cadavid has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novo Nordisk. Dr. Cadavid has stock in Verge Genomics.