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2019 Annual Meeting | S51 - Child Neurology: Bench to Bedside: Progress in Treating Genetic Disorders

Thursday 05/09/19
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
Richard S. Finkel, MD, FAAN, Xilma R. Ortiz-Gonzalez, MD, PhD
Child Neurology and Developmental Neurology
2.00 CME credits

Program Materials Program Evaluations

Event Timeline
03:30 PM - 03:41 PM EDT Abstract 001 - MGTA-456, A First-in-Class Cell Therapy, Enhances Speed and Level of Human Microglia Engraftment in the Brains of Transplanted Mice
Kevin Goncalves
03:41 PM - 03:52 PM EDT Abstract 002 - Rett syndrome gene therapy improves survival and ameliorates behavioral phenotypes in MeCP2 null
03:52 PM - 04:03 PM EDT Abstract 003 - Reversal of Paralysis and Prevention of Premature Death in a Mouse Germline Model of Leigh Syndrome Caused by a Mutation in Mitochondrial ATP Synathse
John R. Guy, MD
04:03 PM - 04:14 PM EDT Abstract 004 - Preservation of Function over time as Measured by North Star Ambulatory Assessment in Ambulatory Boys with Nonsense Mutation Muscular Dystrophy Treated with Ataluren
Craig McDonald, MD
04:14 PM - 04:25 PM EDT Abstract 005 - Eteplirsen-Treatment Attenuates Respiratory Decline in Ambulatory and Non-ambulatory Patients With Duchenne Muscular Dystrophy: Comparison With Natural History Cohorts
04:25 PM - 04:36 PM EDT Abstract 006 - Edasalonexent, an NF-kB Inhibitor, Slows Longer-Term Disease Progression on Multiple Functional and MRI Assessments Compared to Control Period in 4 to 7-Year Old Patients with Duchenne Muscular Dystrophy
Richard S. Finkel, MD, FAAN
04:36 PM - 04:47 PM EDT Abstract 007 - A Novel Mouse Model with Tubb4a (D249N/D249N) for classical Hypomyelination and atrophy of basal ganglia and cerebellum
Sunetra Sase, PhD
04:47 PM - 04:58 PM EDT Abstract 008 - Cellular models of Hypomyelination and Atrophy of Basal Ganglia and Cerebellum using rodent and human induced pluripotent stem cells
Akshata Almad, PhD
04:58 PM - 05:09 PM EDT Abstract 009 - 15q11.2 Deletion Results in Altered Excitability and Connectivity in Human Induced Pluripotent Stem Cell Derived Neurons
Christa Habela, MD
05:10 PM - 05:30 PM EDT Q&A Q&A Panel with Authors
Faculty Disclosures
Richard S. Finkel, MD, FAAN Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AveXis. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Capricor. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ReveraGen. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Finkel 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. Finkel has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Finkel has received research support from AveXis. The institution of Dr. Finkel has received research support from Biogen. The institution of Dr. Finkel has received research support from Capricor. The institution of Dr. Finkel has received research support from Catabasis. The institution of Dr. Finkel has received research support from ReveraGen. The institution of Dr. Finkel has received research support from Roche. The institution of Dr. Finkel has received research support from Scholar Rock. Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. Dr. Finkel has received personal compensation in the range of $0-$499 for serving as a Speaker in workshop with National Academy of Sciences. Dr. Finkel has a non-compensated relationship as a advisor with n-Lorem Foundation that is relevant to AAN interests or activities. Dr. Finkel has a non-compensated relationship as a Board Member with EveryLife Foundation that is relevant to AAN interests or activities.
Xilma R. Ortiz-Gonzalez, MD, PhD The institution of Dr. Ortiz-Gonzalez has received research support from Robert Wood Johnson Foundation . The institution of Dr. Ortiz-Gonzalez has received research support from NINDS.
Erika L. Finanger, MD Dr. Finanger has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sarepta Therapeutics. Dr. Finanger has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC Therapeutics. Dr. Finanger has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Reata. Dr. Finanger has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer.
Divya Sirdeshpande No disclosure on file
No disclosure on file
Perry Shieh, MD, PhD, FAAN 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.
Adeline Vanderver, MD, FAAN An immediate family member of Dr. Vanderver has received personal compensation for serving as an employee of Maryland Physician Care. The institution of Dr. Vanderver has received research support from Takeda. The institution of Dr. Vanderver has received research support from Passage Bio. The institution of Dr. Vanderver has received research support from Homology. The institution of Dr. Vanderver has received research support from Eli Lilly. The institution of Dr. Vanderver has received research support from Myrtelle. The institution of Dr. Vanderver has received research support from SynaptixBio. The institution of Dr. Vanderver has received research support from PMD Foundation. The institution of Dr. Vanderver has received research support from Ionis. The institution of Dr. Vanderver has received research support from ISD . The institution of Dr. Vanderver has received research support from Boehringer-Ingelheim. The institution of Dr. Vanderver has received research support from Biogen. The institution of Dr. Vanderver has received research support from Sana. The institution of Dr. Vanderver has received research support from Affinia. The institution of Dr. Vanderver has received research support from BridgeBio. The institution of Dr. Vanderver has received research support from Orchard. The institution of Dr. Vanderver has received research support from Minoryx. The institution of Dr. Vanderver has received research support from Forge Biologics. The institution of Dr. Vanderver has received research support from Vigil. Dr. Vanderver has received intellectual property interests from a discovery or technology relating to health care. Dr. Vanderver has received intellectual property interests from a discovery or technology relating to health care.
Maria Mancini No disclosure on file
Navid Khan No disclosure on file
Steven Scherer, MD Dr. Scherer has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Pfizer. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Takeda. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Toray Industries. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Applied Therapeutics. Dr. Scherer has received personal compensation in the range of $100,000-$499,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Disarm Therapeutics. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Mitochondria in Motion. The institution of Dr. Scherer has received research support from NIH .
Traci Schilling No disclosure on file
Kevin Goncalves No disclosure on file
Carl E. Stafstrom, MD, PhD No disclosure on file
Gretchen Thomsen No disclosure on file
Nicholas J. Maragakis, MD, FAAN Dr. Maragakis has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UptoDate. Dr. Maragakis has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Apellis Pharmaceuticals. Dr. Maragakis has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. An immediate family member of Dr. Maragakis has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for National Basketball Association. Dr. Maragakis has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Akava. An immediate family member of Dr. Maragakis has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Johns Hopkins Howard County Medical Center. Dr. Maragakis has stock in Akava. The institution of Dr. Maragakis has received research support from NIH/NINDS. The institution of Dr. Maragakis has received research support from Department of Defense. The institution of Dr. Maragakis has received research support from Maryland Stem Cell Research Fund. Dr. Maragakis has received intellectual property interests from a discovery or technology relating to health care.
Asako Takanohashi, PhD, DVM Dr. Takanohashi has nothing to disclose.
Akshata Almad, PhD No disclosure on file
Joanne Donovan, MD, PhD No disclosure on file
Pradeep Bista No disclosure on file
Heather Gordish-Dressman Heather Gordish-Dressman has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for AGADA Biosciences. Heather Gordish-Dressman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Solid Biosciences. Heather Gordish-Dressman has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for TRiNDS, LLC. Heather Gordish-Dressman has received personal compensation in the range of $500-$4,999 for serving as a Statistical reviewer with TREAT-NMD TACT Committee.
Christa Habela, MD The institution of Dr. Habela has received research support from NINDS. Dr. Habela has received publishing royalties from a publication relating to health care.
Arens Taga, MD Dr. Taga has nothing to disclose.
John R. Guy, MD No disclosure on file
Panayiota Trifillis Panayiota Trifillis has received personal compensation for serving as an employee of PTC Therapeutics. Panayiota Trifillis has received stock or an ownership interest from PTC Therapeutics, Inc.. Panayiota Trifillis has received intellectual property interests from a discovery or technology relating to health care.
Stuart Peltz No disclosure on file
Marcio N. Souza, MD Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Lilly. Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Novartis. Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for TEVA. Dr. Souza has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Libbs. Dr. Souza has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Abbvie.
Sunetra Sase, PhD No disclosure on file
Craig McDonald, MD Dr. McDonald has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Sarepta Therapeutics. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for PTC Therapeutics. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Solid Biosciences. Dr. McDonald has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. McDonald 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 Therapeutics. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Solid Biosciences. Dr. McDonald has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Edgewise Therapeutics. The institution of Dr. McDonald has received research support from Sarepta Therapeutics. The institution of Dr. McDonald has received research support from PTC Therapeutics. The institution of Dr. McDonald has received research support from Edgewise Therapeutics. The institution of Dr. McDonald has received research support from Capricor Therapeutics. The institution of Dr. McDonald has received research support from Italfarmaco. Dr. McDonald has received research support from NS Pharma. The institution of Dr. McDonald has received research support from NIH (NINDS). The institution of Dr. McDonald has received research support from Parent Project Muscular Dystrophy. The institution of Dr. McDonald has received research support from Muscular Dystrophy Association. Dr. McDonald has received personal compensation in the range of $500-$4,999 for serving as a Member National Advisory Board for Medical Rehabilitation Research with NIH.
Linda P. Lowes, PT PhD The institution of Ms. Lowes has received research support from Sarepta Therapeutics.
Gihan Tennekoon, MD No disclosure on file
Hongjun Song, PhD No disclosure on file
Francesco Muntoni, MD Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sarepta. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Muntoni has received research support from European Commission. The institution of Dr. Muntoni has received research support from Medical Research Council. The institution of Dr. Muntoni has received research support from Biogen. The institution of Dr. Muntoni has received research support from Muscular Dystrophy UK. The institution of Dr. Muntoni has received research support from MDA USA. The institution of Dr. Muntoni has received research support from Sarepta. The institution of Dr. Muntoni has received research support from Association Francoise Myopathies. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving as a Clinical expert with UK NICE Committee.
William Rooney, PhD Dr. Rooney has nothing to disclose.