Agenda

Sunday, April 21 — Reception 6:30-8:30 pm

Monday, April 22:
7	–	8 a.m.	BREAKFAST

OPENING SESSION
8	–	8:30 a.m.	Welcome, introductory comments
8:30	–	8:50 a.m.	Developing therapy for neuromuscular disease — Kurt Fischbeck, M.D., NINDS

SESSION 1: TARGETS
8:50	–	9:10 a.m.	Considerations for developing transformative therapies for spinal muscular atrophy — Seng Cheng, Ph.D., Genzyme, a Sanofi Company
9:10	–	9:30 a.m.	The evolution beyond mouse models. Using c9orf72 ALS iPS cells to develop antisense therapy and understand pathophysiology — Jeffrey Rothstein, M.D., Ph.D., Johns Hopkins University
9:30	–	9:50 a.m.	FSHD: A target-rich environment — Stephen Tapscott, M.D., Ph.D., Fred Hutchinson Cancer Research Center
9:50	–	10:10 a.m.	Drug-screening strategies for Charcot-Marie-Tooth disease — John Svaren, Ph.D., University of Wisconsin, Madison
10:10	–	10:20 a.m.	Systemic gene silencing therapeutic approaches for DM1 and FSHD — Joel Chamberlain, Ph.D., University of Washington
10:20	–	10:30 a.m.	Therapeutic drug screening using the dystroglycan null zebrafish — Genri Kawahara, Ph.D., Children's Hospital Boston
10:30	–	10:40 a.m.	Abstract Identifying alpha 7 integrin enhancing small molecules for the treatment of muscular dystrophy — Ryan Wuebbles, Ph.D., University of Nevada, Reno
10:40	–	10:50 a.m.	N-acetylserotonin rescues neuronal cell death, delays disease onset, mortality and body weight loss, and preserves neuromuscular junction innervation in models of ALS — Xin Wang, Ph.D., Brigham and Women’s Hospital/Harvard Medical School

10:50	–	11:20 a.m.	COFFEE

SESSION 2: GENETIC MODIFIERS
11:20	–	11:40 a.m.	Ataxin2 and others for ALS — Aaron Gitler, Ph.D., Stanford School of Medicine
11:40 a.m.	–	12 p.m.	SPP1 for DMD and other muscle disorders — Eric Hoffman, Ph.D., Children's National Medical Center
12	–	12:20 p.m.	Genetic modifiers for DMD: From models to patients — Beth McNally, M.D., Ph.D., University of Chicago Medical Center
12:20	–	12:30 p.m.	MicroRNAs as modifiers of dystrophin protein levels in Becker dystrophy: Implications for inter-patient variability in exon skipping — Alyson Fiorillo, Ph.D., Children’s National Medical Center
12:30	–	12:40 p.m	Exploring novel determinants of the spinal muscular atrophy phenotype using model mice — Umrao Monani, Ph.D., Columbia University
12:40	–	12:50 p.m	RNAi screening of the kinome identifies a novel genetic modulator of foci integrity in myotonic dystrophy type 1 — Sean O’Reilly, Ph.D., Children’s Hospital of Eastern Ontario

1	–	2 p.m.	LUNCH

SESSION 3: THERAPEUTIC MODALITIES
2	–	2:20 p.m.	Stem cells for ALS — Clive Svendsen, Ph.D., Cedars-Sinai Medical Center
2:20	–	2:40 p.m.	Peptide targeting of gene therapies for neuromuscular disease — Matthew Wood, M.D., Ph.D., Oxford University
2:40	–	3 p.m.	Decoding the transcriptome with designed small molecules, application toward myotonic dystrophy — Matthew Disney, Ph.D., Scripps Research Institute
3	–	3:10 p.m.	Biglycan as a candidate protein therapeutic for all forms of DMD — Joel Braunstein, M.D., Tivorsan Pharmaceuticals Inc.
3:10	–	3:20 p.m.	Evaluation of new antisense oligomers targeting the DUX4 mRNA as a therapeutic strategy for FSHD — Eugenie Ansseau, Ph.D., UMONS — Molecular Biology
3:20	–	3:30 p.m.	siRNA-mediated allele-specific silencing of a dominant negative COL6A3 mutation causing Ullrich congenital muscular dystrophy — Veronique Bolduc, Ph.D., National Institute of Neurological Disorders and Stroke

3:30	–	3:50 p.m.	COFFEE

SESSION 4: BIOMARKERS
3:50	–	4:10 p.m.	Biomarkers and FDA qualification of biomarkers — Marc Walton, Ph.D. FDA
4:10	–	4:30 p.m.	Mass spectrometry methods for surrogate biomarker discovery in Duchenne — Yetrib Hathout, Ph.D., Children's National Medical Center
4:30	–	4:50 p.m.	Imaging as a biomarker for NMDs — Krista Vandenbourne, PT, Ph.D., University of Florida
4:50	–	5:10 p.m.	What have we learned from DMD trials to date — Francesco Muntoni, M.D., University College, London
5:10	–	5:30 p.m.	Biomarkers at different stages of development — Ajay Verma, M.D., Ph.D., Biogen Idec
5:30	–	5:40 p.m.	Reduced FoxP3+ lymphocytes in ALS patients are predictive of rapidly progressing disease and attenuated survival — Stanley Appel, M.D., Methodist Neurological Institute
5:40	–	5:50 p.m.	The pathophysiology of the H-reflex in amyotrophic lateral sclerosis and its use as a biomarker of upper motor neuron dysfunction — Neil Simon, M.D. University of California, San Francisco
5:50	–	6 p.m.	Development of urinary biomarkers to monitor oligomer treatment in Duchenne muscular dystrophy — Aiping Zhang, Ph.D., Children’s National Medical Center

6:30	–	8:30 p.m.	POSTER SESSION (Note: Trainees should be at their posters in order to compete for “Best Poster” Awards.)

Tuesday, April 23:
7	–	8 a.m.	BREAKFAST
8	–	8:15 a.m.	Introductions

SESSION 5: ANIMAL MODELS IN NMDS
8:15	–	8:35 a.m.	Spontaneous Canine Models of Neuromuscular Disease — Joe Kornegay, DVM, Ph.D. Texas A&M University
8:35	–	8:55 a.m.	Canine Degenerative Myelopathy: A disease model of SOD1-mediated amyotrophic lateral sclerosis — Joan Coates, DVM, MS, Diplomate
8:55	–	9:15 a.m.	Humanizing the mouse glycome to improve muscular dystrophy models cross — Paul Martin, Ph.D., Nationwide Children’s Hospital
9:15	–	9:35 a.m.	Gene therapy in dog models of Duchenne muscular dystrophy — Dongsheng Duan, Ph.D., University of Missouri
9:35	–	9:45 a.m.	BIN1 deficiency in zebrafish results in centronuclear myopathy — Laura Smith, Harvard Medical School, Boston Children’s Hospital
9:45	–	9:55 a.m.	Development and characterization of an SMN2-based intermediate mouse model of spinal muscular atrophy — Madeline Miller, University of Missouri
9:55	–	10:05 a.m.	Emerin-LAP1 double knockout mice: A small animal model of X-linked Emery-Dreifuss muscular dystrophy — Ji-Yeon Shin, Ph.D., Columbia University
10:05	–	10:15 a.m.	Reduced pathology and improved function in skeletal muscle and myocardium of myeloid differentiation primary response dene 88 deficient mdx mice — Christopher Spurney, M.D., Children’s National Medical Center

10:15	–	10:40 a.m.	COFFEE

SESSION 6: USE OF ANIMAL MODELS IN DRUG DEVELOPEMENT
10:40	–	11 a.m.	Animal models, measurements and reproducibility — Cathleen Lutz, Ph.D., Jackson Laboratory
11	–	11:20 a.m.	ALS mouse models (methods reporting and rigorous preclinical study design) — Steve Perrin, Ph.D., ALS Therapy Development Institute
11:20	–	11:40 a.m.	Using zebrafish models of muscular dystrophy for drug discovery — Louis Kunkel, Ph.D., Harvard Medical School
11:40 a.m.	–	12 p.m.	Mouse models of FSHD — Silvère van de Maarel, Ph.D., Leiden University Medical Center
12	–	12:20 p.m.	SMA mouse models — Charlotte Sumner, M.D., Johns Hopkins Hospital
12:20	–	12:30 p.m.	Intravenous infusion of AAV8-MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy — Martin Childers, D.O., Ph.D., University of Washington
12:30	–	12:40 p.m.	Do intronic breakpoints influence exon skipping efficacy in Duchenne muscular dystrophy patients? — Sebahattin Cirak, M.D., Children's National Medical Center
12:40	–	12:50	Mechanism of action of SMT C1100, a candidate for utrophin modulation for the therapy of Duchenne muscular dystrophy (DMD) — Kay Davies, Ph.D., University of Oxford

12:50	–	1:50 p.m.	LUNCH

SESSION 7: PRECLINICAL WORK FOR TRIAL DESIGN AND REGULATION
1:50	–	2:10 p.m.	Characteristics/issues for a therapeutic candidate — John McCall, Ph.D., Pharmac LLC
2:10	–	2:30 p.m.	Designing preclinical mouse trials for neuromuscular disease models — Kanneboyina Nagaraju, Ph.D., DVM, Children’s National Medical Center
2:30	–	2:50 p.m.	PDUFA and regulation of new drugs — Frank Sasinowski, M.S., M.P.H, J.D., NORD
2:50	–	3:10 p.m.	Reveragen’s drug development path — Edward Connor, M.D., Reveragen Biopharma

3:10	–	3:30 p.m.	COFFEE

SESSION 8: CLINICAL TRIALS
3:30	–	3:50 p.m.	Adaptive design for clinical trials — Donald Berry, Ph.D., University of Texas MD Anderson Cancer Center
3:50	–	4:05 p.m.	NeuroNEXT and novel clinical trial design — Elizabeth McNeill, M.D., M.Sc., NINDS
4:05	–	4:20 p.m.	Trials for DMD — Jerry Mendell, M.D., Nationwide Children’s Hospital
4:20	–	4:35 p.m.	Looking forward to clinical trials in myotonic dystrophy — Charles Thornton, M.D., — University of Rochester
4:35	–	4:50 p.m.	Dexpramipexole — Douglas Kerr, M.D., Ph.D., Biogen Idec
4:50	–	5:05 p.m.	Development of ISIS-SMNRx for the treatment of spinal muscular atrophy — Kathie Bishop, Ph.D., Isis Pharmaceuticals
5:05	–	5:20 p.m.	GSK/Prosensa exon-skipping trials — Thomas Voit, M.D. Pitié-Salpêtrière Hospital
5:20	–	5:30 p.m.	Tirasemtiv (CK-2017357), a selective fast skeletal muscle troponin activator for the potential treatment of ALS — Jinsy Andrews, M.D., Cytokinetics
5:30	–	5:40 p.m.	A composite milestone scale shows “clinically meaningful” glucocorticoid treatment-related functional differences in children and adults in a longitudinal CINRG Duchenne muscular dystrophy natural history study cohort — Erik K. Henricson, MPH, UC Davis
5:40	–	5:50 p.m.	MR supports the therapeutic effect of corticosteroids in 5- to 7-year-old boys with DMD — Ishu Arpan, BPT, University of Florida
5:50	–	6:00 p.m.	Outcomes of continuous noninvasive ventilatory support in neuromuscular disease: A multicenter ongoing analysis — John R. Bach, M.D., New Jersey Medical School

Wednesday, April 24:
7	–	8 a.m.	BREAKFAST
8	–	8:30 a.m.	Introductions by Vance Taylor, announcement of poster award winners
8:30	–	8:50 a.m.	Extraocular muscle satellite cells are high performance myo-engines: A promising avenue for therapy of muscle wasting disorders? — Zipora Yablonka-Reuveni, Ph.D.
8:50	–	9:10 a.m.	A prospective, randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in Duchenne muscular dystrophy — Hugh D. Allen, M.D.
9:10	–	9:30 a.m.	Evaluation of HDAC inhibitors for Friedreich’s ataxia: Treating patient cells in vitro predicts patient response in vivo — Jim Rusche, Ph.D.
9:30	–	9:50 a.m.	Specific reduction of mutant mitochondrial genomes load by mitochondrial nucleases — Carlos T. Moraes, Ph.D.
9:50	–	10:10 a.m.	Defining the pathomechanisms and identifying therapeutic targets for autosomal dominant centronuclear myopathy due to DNM2 mutation — James J. Dowling, M.D.
10:10	–	10:30 a.m.	COFFEE
10:30 a.m.	–	12 p.m.	Resources for drug development — Sanjay Bidichandani, chair: NCATS: Partnership and resource for therapeutic development for neuromuscular diseases — Nora Yang, Ph.D., MBA, NCATS Tissue banks and repositories; what works, what doesn’t — Jim Vaught, Ph.D., NCI Organs on chips for drug screening and toxicology studies — Danilo Tagle, Ph.D., NINDS Stem cell and reprogramming approaches for the study of motor neuron disease — Kevin Eggan, Ph.D., Harvard University PRO-ACT database of clinical trial data for ALS — Melanie Leitner, Ph.D., Prize for Life NeuroBANK: an International Integrated Repository of Clinical Data in ALS — Alexander Sherman
12	–	12:30 p.m.	Overview of the meeting — holes and issues in NMD drug development, positive steps forward, etc. — John Porter, Ph.D., NINDS

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