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July 30, 2014

Observational study of spinal muscular atrophy type I and implications for clinical trials

Richard S. Finkel, MD, Michael P. McDermott, PhD, Petra Kaufmann, MD, MSc, Basil T. Darras, MD, Wendy K. Chung, MD, PhD, Douglas M. Sproule, MD, MSc, Peter B. Kang, MD, … Show All … , A. Reghan Foley, MD, PhD, Michelle L. Yang, MD, William B. Martens, BA, Maryam Oskoui, MD, Allan M. Glanzman, DPT, Jean Flickinger, PT, Jacqueline Montes, DPT, EdD, Sally Dunaway, DPT, Jessica O'Hagen, DPT, Janet Quigley, PT, Susan Riley, DPT, Maryjane Benton, BS, RN, Patricia A. Ryan, MA, OT, Megan Montgomery, BS, MPH, Jonathan Marra, MA, Clifton Gooch, MD, and Darryl C. De Vivo, MDAuthors Info & Affiliations
August 26, 2014 issue
83 (9) 810-817
https://doi.org/10.1212/WNL.0000000000000741
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Abstract

Objectives:

Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I).

Methods:

Patients were enrolled at 3 study sites and followed for up to 36 months with serial clinical, motor function, laboratory, and electrophysiologic outcome assessments. Intervention was determined by published standard of care guidelines. Palliative care options were offered.

Results:

Thirty-four of 54 eligible subjects with SMA-I (63%) enrolled and 50% of these completed at least 12 months of follow-up. The median age at reaching the combined endpoint of death or requiring at least 16 hours/day of ventilation support was 13.5 months (interquartile range 8.1–22.0 months). Requirement for nutritional support preceded that for ventilation support. The distribution of age at reaching the combined endpoint was similar for subjects with SMA-I who had symptom onset before 3 months and after 3 months of age (p = 0.58). Having 2 SMN2 copies was associated with greater morbidity and mortality than having 3 copies. Baseline electrophysiologic measures indicated substantial motor neuron loss. By comparison, subjects with SMA-II who lost sitting ability (n = 10) had higher motor function, motor unit number estimate and compound motor action potential, longer survival, and later age when feeding or ventilation support was required. The mean rate of decline in The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders motor function scale was 1.27 points/year (95% confidence interval 0.21–2.33, p = 0.02).

Conclusions:

Infants with SMA-I can be effectively enrolled and retained in a 12-month natural history study until a majority reach the combined endpoint. These outcome data can be used for clinical trial design.

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Supplementary Material

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REFERENCES

1.
Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012;20:27–32.
Crossref
PubMed
Google Scholar
2.
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155–165.
Crossref
PubMed
Google Scholar
3.
Lorson C, Hahnen E, Androphy E, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999;96:6307–6311.
Crossref
PubMed
Google Scholar
4.
Feldkötter M, Schwarzer V, Wirth R, Wienker T, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70:358–368.
Crossref
PubMed
Google Scholar
5.
Gabanella F, Carissimi C, Usiello A, Pellizzoni L. The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum Mol Genet 2005;14:3629–3642.
Crossref
PubMed
Google Scholar
6.
Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518–523.
Crossref
PubMed
Google Scholar
7.
Munsat T, Davies K. Spinal muscular atrophy. 32nd ENMC International Workshop. Naarden, The Netherlands, 10–12 March, 1995. Neuromuscul Disord 1996;6:125–127.
Crossref
PubMed
Google Scholar
8.
Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol 1999;3:49–51.
Crossref
PubMed
Google Scholar
9.
Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord 1994;4:497–502.
Crossref
PubMed
Google Scholar
10.
Bertini E, Burghes A, Bushby K, et al. 134th ENMC International Workshop: outcome measures and treatment of spinal muscular atrophy, 11–13 February, 2005, Naarden, The Netherlands. Neuromuscul Disord 2005;15:802–816.
Crossref
PubMed
Google Scholar
11.
Oskoui M, Levy G, Garland C, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007;69:1931–1936.
Crossref
PubMed
Google Scholar
12.
Kaufmann P, McDermott MP, Darras BT, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 2011;68:779–786.
Crossref
PubMed
Google Scholar
13.
Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012;79:1889–1897.
Crossref
PubMed
Google Scholar
14.
Wang C, Finkel R, Bertini E, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027–1049.
Crossref
PubMed
Google Scholar
15.
Glanzman A, Mazzone E, Main M, et al. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord 2010;20:155–161.
Crossref
PubMed
Google Scholar
16.
Glanzman AM, O'Hagen JM, McDermott MP, et al. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol 2011;26:1499–1507.
Crossref
PubMed
Google Scholar
17.
Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005;57:704–712.
Crossref
PubMed
Google Scholar
18.
Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med 2012;13:e161–e165.
Crossref
PubMed
Google Scholar
19.
Rudnik-Schoneborn S, Lutzenrath S, Borkowska J, Karwanska A, Hausmanowa-Petrusewicz I, Zerres K. Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I–III from the point of view of progression and severity. Eur Neurol 1998;39:154–162.
Crossref
PubMed
Google Scholar
20.
Crawford TO, Sladky JT, Hurko O, Besner-Johnston A, Kelley RI. Abnormal fatty acid metabolism in childhood spinal muscular atrophy. Ann Neurol 1999;45:337–343.
Crossref
PubMed
Google Scholar
21.
Bowerman M, Swoboda KJ, Michalski JP, et al. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol 2012;72:256–268.
Crossref
PubMed
Google Scholar

Information & Authors

Information

Published In

Neurology®
Volume 83 • Number 9 • August 26, 2014
Pages: 810-817
PubMed: 25080519

Copyright

© 2014 American Academy of Neurology.

Publication History

Received: July 10, 2013
Accepted: May 23, 2014
Published online: July 30, 2014
Published in print: August 26, 2014

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Disclosure

R. Finkel served as a Data and Safety Monitoring Board (DSMB) member for a trial sponsored by Sarepta Therapeutics and now serves on a DSMB for an scAAV9 gene therapy clinical trial at Nationwide Children's Hospital, serves on advisory boards for DuchenneConnect, Families of SMA, SMA-REACH, PTC Therapeutics, Inc., Isis Pharmaceuticals, Inc; has received honoraria from Novartis and Roche, has received travel expenses for lectures not funded by industry; serves on the editorial board of Neuromuscular Disorders and Journal of Neuromuscular Disorders; receives research support from Isis Pharmaceuticals, Inc., PTC Therapeutics, Inc. (PTC124-016 study, site PI), Santhera Pharmaceuticals (DELOS Study in Duchenne MD, site PI), the NIH (5R21-NS058926 [PI], U54 AR0526446-03 [Co-I], 1U54 NS065712-01 [Co-I]), RO1-AR056973 [Co-I]), the SMA Foundation (PNCR network for SMA, site PI), the Muscular Dystrophy Association, Genzyme Corporation, and the Charcot-Marie-Tooth Association; and his spouse serves on the editorial board of Arthritis Research and Therapy, holds and has received license fees for numerous patents related to T-cell activation and HIV, and receives research support from the Gates Foundation, Merck Serono, and the NIH in the field of T-cell activation, HIV, and genomics of juvenile arthritis. M. McDermott serves as a DSMB member for trials sponsored by Isis Pharmaceuticals, Biogen Idec, Inc., The ALS Association/FDA, and the Muscular Dystrophy Association. He serves on the editorial board for Movement Disorders and has been a consultant for the New York State Department of Health, Teva Pharmaceutical Industries, Ltd., Synosia, Inc., Smith & Nephew, Inc., Impax Pharmaceuticals, Bioness, Inc., and Asubio Pharmaceuticals, Inc. He receives research support from the Michael J. Fox Foundation, Spinal Muscular Atrophy Foundation, Muscular Dystrophy Association, American Dental Association, the FDA, and NIH. P. Kaufmann reports no disclosures relevant to the manuscript. B. Darras has received publishing royalties from UpToDate and consulting fees from Isis Pharmaceuticals, Quest Diagnostics, Guidepoint Global Consultation, Easton Associates, Clearview Healthcare Partners, and Gerson Lehrman Group. He has received honoraria from the American Academy of Neurology and the Muscular Dystrophy Association. He has received research support from PTC Therapeutics, Isis Pharmaceuticals, NIH/NIAMS 2P01NS-40828-6A11, NIH/National Institute of Neurological Disorders and Stroke (NINDS) 1U10NS077269; NIH/NIAMS 1R01AR060850, SMA Foundation, Muscular Dystrophy Association, and Slaney Family Fund for SMA. He serves on the editorial boards of Neurology and Pediatric Neurology. W. Chung reports no disclosures relevant to the manuscript. D. Sproule receives research funding from PTC Therapeutics, the SMA Foundation, and NINDS-sponsored Neurological Sciences Academic Development Award (K12 NS01698). P. Kang received travel funding from Isis Pharmaceuticals and various nonprofit entities during the study period. He previously served as an occasional consultant for LEK consulting, Gerson Lehrman Group, and Leerink Swann, all commercial consulting firms. He has received honoraria for grant reviews from nonprofit entities and federal government agencies. He previously performed medico-legal consulting for Gross, Minsky & Mogul and currently does so for a federal government agency. He performs EMGs (15% effort). Dr. Kang receives honoraria for serving as an officer of the Massachusetts Medical Society, a nonprofit entity, and has received occasional honoraria from other nonprofit entities. He has received compensation from Oakstone Publishing and Springer, both commercial publishing firms. Dr. Kang receives research support from the NIH and the Muscular Dystrophy Association, and previously received research support from Harvard University and Boston Children's Hospital. His spouse receives research support from the NIH and Boston Children's Hospital, and receives royalties from a gene therapy patent. A. Foley receives research support from the Muscular Dystrophy Campaign (UK). M. Yang and W. Martens report no disclosures relevant to the manuscript. M. Oskoui received research support from the Public Health Agency of Canada, project RT736230, for 2 years and the Spinal Muscular Atrophy Foundation (2004–2007, fellowship). Dr. Oskoui receives research support from SickKids Foundation–CIHR over 3 years. Dr. Oskoui is a Clinician Research Scholar of the Fonds de recherche du Québec–Santé (FRQS). A. Glanzman received funding for travel and training from GlaxoSmithKline, PTC Therapeutics, and Eli Lilly, and receives research support from the SMA Foundation. J. Flickinger reports no disclosures relevant to the manuscript. J. Montes is a consultant for Isis Pharmaceuticals Inc. and is funded in part by Department of Defense grant USAMRAA 09131005. S. Dunaway is funded in part by Department of Defense grant USAMRAA 09131005. J. O'Hagen and J. Quigley report no disclosures relevant to the manuscript. S. Riley received honoraria from the SMA Foundation for speaking at an SMA/Scoliosis conference at the Children's Hospital of Philadelphia. M. Benton, P. Ryan, M. Montgomery, and J. Marra report no disclosures relevant to the manuscript. C. Gooch is a consultant for NeuralStem, a medical advisory board member of the GBS/CIDP Foundation International, and an employee of the FDA. He is an editorial board member of the Journal of Clinical Neuromuscular Disease and Neurology (journal of the American Academy of Neurology). He receives travel funding from the NIH as chair of the DSMB (IVIg in Autonomic Neuropathy). D. De Vivo serves on the scientific advisory boards for Colleen Giblin Foundation, SMA Foundation, Canavan Foundation, Pediatric Neurotransmitter Disease Association, Milestones for Children, Will Foundation, Glut1 Deficiency Foundation, and Isis Pharmaceuticals. He has received compensation as a consultant for Isis Pharmaceuticals and Ultragenyx Pharmaceutical Inc. Dr. De Vivo receives research support from the NIH/NICHD and NINDS, Department of Defense, SMA Foundation, Colleen Giblin Foundation, Milestones for Children, Glut1 Deficiency Foundation, and the Will Foundation. Go to Neurology.org for full disclosures.

Study Funding

This study was sponsored by the SMA Foundation (New York) through funding to the Pediatric Neuromuscular Clinical Research Network. Additional clinical research support was provided through CTSA 1 NIH UL1 RR024134 (The Children's Hospital of Philadelphia), CTSA NIH 1 UL1 RR024156 and the NSADA K12 program (Columbia University), and NIH 1 UL1 RR025755 from the National Center for Research Resources, NIH, to the Harvard Catalyst Clinical & Translational Science Center (Harvard Catalyst).

Authors

Affiliations & Disclosures

Richard S. Finkel, MD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
(1) PTC Therapeutics, medical advisory board, 2007-12 (2) DuchenneConnect, medical advisory board, 2008- (3) Families of SMA, medical advisory board, 2004- (4) TREAT-NMD, clinical representative on the Advisory Committee for Therapeutics, 2009-11 (5) AVI/Sarepta, DSMB member, 2012 (6)Nationwide Children's Hospital scAAV9 study in SMA, DSMB member, 2013-
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
(1) Families of SMA - funding for travel, 2005- (2) SMA Foundation - funding for travel, 2007- (3) Parent Project MD - funding for travel, 2005- (4) Muscular Dystrophy Assn - funding for travel, 2011- (5) Isis Pharmaceuticals - speaker honoraria, 2013.
Editorial Boards:
1.
Editorial advisory board member without compensation: (1) Neuromuscular Disorders, 2010- (2) J. Neuromuscular Diseases, 2013- Spouse serves on the editorial board of Arthritis Research and Therapy without compensation, 1999-
Patents:
1.
Patents held by spouse: 1. Finkel, T.H., Kubo, R.: Mouse Anti-TCR Zeta Antibody to Southern Biotechnology Associates. 2. Finkel, T.H., Kubo, R.: Anti-Human TCR Zeta mAb to Upstate Pharmaceuticals, NY. 3. Finkel, T.H., Kubo, R.: Anti- Human TCR Zeta mAb to Santa Cruz Biotechnology.
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
(1) Isis pharmaceuticals - 2012
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
Approximately 15% of my time and effort is in dealing with patients with muscular dystrophy, the population being addressed in this manuscript. Some of these patients are enrolled in clinical trials (natural history, drug intervention studies) where standard clinical assessments and study related testing (myometry, motor function tests,pulmonary function testing, electrophysiological testing) are performed.
Research Support, Commercial Entities:
1.
Dr. Richard Finkel: (1)PTC Therapeutics, PI and co-I, various studies, 2006-12 (2)Santhera Pharmaceuticals, PI, 2009-12 (3)Isis Pharmaceuticals, advisor, 2012- March, 2013; investigator April, 2013- (4) Eli Lilly Pharmaceuticals, investigator, 2013-
Research Support, Government Entities:
1.
Dr. Richard Finkel: (1) U54AR0526446-03, co-I, 2008- (2) 1U54NS065712-01, co-I, 2009- (3) 5R21NS058926-02, PI, 2010-13 (4) 5U54AR052646-03, co-I (5) R01NS043264, co-I (6) NHHSN265200423611C (7) RO1AR056973, co-I Spouse has the following NIH grants: (1) RC1 AR058606, PI,09/30/2009-11 (2) 1R21 AI078387, PI, 07/01/2008-10 (4) 1R41 A1071927, PI, 8/15/2006-10 (6) 1U19AIO82726, C0-I, 5/8/2009-2014 (7) NIH,Program Project Core Director, 10% effort, 07/01/99-06/30/14
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
(1) Spinal Muscular Atrophy Foundation, 2005- (2) Families of Spinal Muscular Atrophy, 2002- (3) Muscular Dystrophy Association, 2010- (5) Charcot-marie-Tooth Association, 2010-
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
Spouse recieves licensing fee payments: 1. Finkel, T.H., Kubo, R.: Mouse Anti-TCR Zeta Antibody to Southern Biotechnology Associates. 2. Finkel, T.H., Kubo, R.: Anti-Human TCR Zeta mAb to Upstate Pharmaceuticals, NY. 3. Finkel, T.H., Kubo, R.: Anti-Human TCR Zeta mAb to Santa Cruz Biotechnology.
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
1. United States Dept of Justice - expert witness on two Vaccination Compensation Act claims, 2010-13.
View all articles by this author
Michael P. McDermott, PhD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
Isis Pharmaceuticals (DSMB for clinical trial in ALS); Biogen Idec, Inc. (DSMB for clinical trial in ALS); The ALS Association/FDA (DSMB for clinical trial in ALS); Novartis Pharmaceuticals Corporation (DSMB for clinical trials in spinal and bulbar muscular atrophy and severe burn patients); and Muscular Dystrophy Association (DSMB for clinical trial in ALS).
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
Movement Disorders, Editorial Board, 2010-2014; Chance, Editor, 2014.
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
Received consulting fees from the New York State Department of Health (2010-2014), Bioness, Inc. (2012), Biotie Therapies Corporation (2012), and Asubio Pharmaceuticals, Inc. (2012-2013).
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
Received grant support from Forest Research Institute; Medivation, Inc.; NeuroSearch Sweden AB; Boehringer Ingelheim Pharmaceuticals, Inc.; Pfizer, Inc.; and Endo Pharmaceuticals.
Research Support, Government Entities:
1.
Received grant support from: NIH, NS48843, Co-I, 2003- present; NIH, NS52619, PI, 2005-present; NIH, NS61795, PI, 2010-present; NIH, AT04526, Co-I, 2007-present; NIH, EY17387, Co-I, 2009-present; NIH, NS60118, Co-I, 2009- 2013; NIH, NS65712, Co-I, 2009-present; NIH, HD57977, Co- I, 2009-2013; NIH, GM96850, Co-I, 2010-present; NIH, DE21047, Co-I, 2012-2013; NIH, AR65119, Co-I, 2013- present; NIH, NS80840, Co-I, 2014-present; CDC, DD00510, Co-I, 2009-2012; FDA, FD03710, Co-I, 2009-present; FDA, FD03716, Co-I, 2011-present; FDA, Co-I, 2011-2013; NYSTEM, C028502, Co-I, 2013-present.
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
Received grant support from Spinal Muscular Atrophy Foundation.
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Petra Kaufmann, MD, MSc
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
Spinal Muscular Atrophy Foundation (uncompensated), Cure Congenital Muscular Dystrophy Foundation (uncompensated), Mitochondrial Research Network External Advisory Board (uncompensated) GOSH Pediatric Research External Advisory Board (uncompensated)
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
Journal of Neuromuscular Disorders, member of the editorial advisory board, since summer 2013
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
This work was performed while I was working at Columbia University. It does not relate to my current position at NIH and does not reflect opinions or positions of NIH.
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
While working at Columbia University and prior to August 2009 I have received research support from Santhera Pharmaceuticals (PI, <1 year), Pennwest Pharmaceuticals (PI, 1 year), and PTC (site PI, 3 years)
Research Support, Government Entities:
1.
While working at Columbia University and prior to 2009 I have received research support from NIH (PI, and co-investigator, approximately 9 years), Department of Defense (co- investigator, approximately 4 years).
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
While working at Columbia University prior to 2009I have received support from the SMA Foundation (site PI, approximately 5 years).
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Basil T. Darras, MD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
(1) Various titles, UpToDate, 1999-present
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
(1) ISIS Pharmaceuticals (2) Quest Diagnostics (3) Guidepoint Global Consultation (4) Easton Associates Consultation (5) Clearview Healthcare Partners (6) Gershon Lehrman Group (7) Roche Pharmaceuticals
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
(1) PTC Therapeutics (2) Isis Pharmaceuticals
Research Support, Government Entities:
1.
(1) NIH/NIAMS, 2P01 NS040828-6A11, Co-PI, 2000-2012. (2) NIH/NINDS, 1U10NS077269, Site-PI/PD, 2011-2018. (3) NIH/NIAMS, 1R01AR060850, Co-PI, 2011-2015.
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
(1) SMA Foundation (2) Muscular Dystrophy Association (3) Slaney Family Fund for SMA
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Wendy K. Chung, MD, PhD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Douglas M. Sproule, MD, MSc
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
My participation with the work in question occurred while on staff at Columbia University Medical Center, New York.I assumed a position with Genzyme, A Sanofi Company, on April 1, 2013; my present position is unrelated to my work on this manuscript.
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
(1)PTC Therapeutics, Inc. (2)GlaxoSmithKline plc. (3)Santhera Pharmaceuticals (4)Isis Pharmaceuticals, Inc. (5)Genzyme, a Sanofi Company
Research Support, Government Entities:
1.
(1)Department of Defense, co-PI, 2010-2013 (2)National Institute of Neurological Disease and Stroke,Neurological Sciences Academic Development Award, 2008-2011 (3)NICHD, K23HD069459-01A1, PI, 2012-2013
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
(1) SMA Foundation (2) Hannah's Hope Fund, Inc. (3) American Academy of Neurology Foundation, Practice Research Training Development Award 2011-2013
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
1. Pfizer 2013 2. Sanofi 2014
Legal Proceedings:
1.
NONE
View all articles by this author
Peter B. Kang, MD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
DMD Advisory Board, Sarepta Therapeutics.
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
(1) ISIS Pharmaceuticals, travel funding for training session. (2) Improving the Use of Electromyography in Paediatrics, non-profit conference organization, travel funding to give lecture in 2013 (3) Amy & Friends Cockayne syndrome network, non-profit entity, travel funding to attend annual retreat in 2013
Editorial Boards:
1.
(1) Editorial board, Pediatric Neurology (no compensation) (2) Editorial board, Pediatrics (no compensation)
Patents:
1.
(1) Compositions and methods for treating glycogen storage diseases (by spouse), 08730667.6-1212 PCT/US2008054911, filed February 25, 2008
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
(1) Fondazione Cariplo (Italy), non-profit, grant reviews (2) Telethon (Italy), non-profit, grant reviews (3) 3rd Rock Ventures, commercial, consulting
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
(1) Massachusetts Medical Society, non-profit entity, honorarium for service as secretary-treasurer (2) US Department of Health and Human Services, government agency, honorarium for medicolegal consulting in vaccine injury program
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
ISIS Pharmaceuticals, commercial entity, 2012
Research Support, Government Entities:
1.
(1) NINDS, K08 NS48180, PI, 2005-2011 (2) NIH HL068915, HL088206, postdoctoral fellow (spouse) (3) NINDS, R01 NS080929, PI, 2013-2018
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
(1) Muscular Dystrophy Association, Research Grant 186796, PI, 2011-2014
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
(1) A5891:Recombinant Adeno-Associated Virus Serotype 1 Vectors for Gene Replacement Therapy for Glycogen Storage Disorder Type II, Pompe Disease (by spouse), University of Florida Research Foundation, 2009.
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
A. Reghan Foley, MD, PhD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
Travel funding from a non-profit patient organization (Cure CMD)
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
Muscular Dystrophy Campaign (UK)
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Michelle L. Yang, MD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
1) DHHS/CDC/CDPHE;5U01DD000191-04/10FHA0062; co- investigator; 11/2009-present 2) ARRA; 4R01NR011051-03; co-investigator; 12/2009-present
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
William B. Martens, BA
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Maryam Oskoui, MD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
2008-2010 CIHR (Canadian Institutes of Health Research) fellowship award for Master's degree, thesis unrelated to this manuscript. 2013-current FRQS (Fonds de Recherche du Quebec) clinician research salary award, junior 1, for work unrelated to this manuscript.
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
SickKids Foundation Young Investigator Award 2013-2016 in conjunction with the CIHR for research study nrelated to this manuscript.
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Allan M. Glanzman, DPT
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
PTC theraputics, clinical evaluator GlaxoSmithKline, evaluation trainer Eli lilly, clinical evaluator Isis Pharmaceutical, clinical evaluator/trainer
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
SMA foundation clinical evaluator 2004 - present
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Jean Flickinger, PT
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Jacqueline Montes, DPT, EdD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
(1) ISIS Pharmeceuticals (2) SMA Foundation
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
(1) Department of Defense; USAMRAA Grant/Cooperative award number: 09131005(W81XWH-10-1-0127), Co-Investigator, May 2010 - 2013.
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Sally Dunaway, DPT
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
(1)Department of Defense; USAMRAA Grant/Cooperative award number: 09131005(W81XWH-10-1-0127), clinical evaluator, May 2010-2013
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Jessica O'Hagen, DPT
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Janet Quigley, PT
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Susan Riley, DPT
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Maryjane Benton, BS, RN
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Patricia A. Ryan, MA, OT
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Megan Montgomery, BS, MPH
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
(1) Spinal Muscular Atrophy Foundation- National CME Course Consultant
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Jonathan Marra, MA
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Clifton Gooch, MD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
1. NeuralStem (DSMB Committee Member)
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
1. Neurology (Editorial Board Member, 2006 to present) 2. Journal of Clinical Neuromuscular Disease (Editorial Board Member, 2004 to present)
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
1.NeuralStem (Consultant for Neuro-regenerative Research) 2.CSL Behring (Consultant for Neuroimmunological disease therapeutic research) 3.Baxter Pharma (Consultant for Neuroimmunological disease therapeutic research)
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
Friedreich's Ataxia Research Alliance
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Darryl C. De Vivo, MD
From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.
Disclosure
Scientific Advisory Boards:
1.
SMA Foundation. The Colleen Giblin Foundation. Pediatric Neurotransmitter Disease Association. International Reye Syndrome foundation. The Will Foundation Glut1 Deficiency Foundation The Grace Wilsey Foundation
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
Speaker Honorarium from the American Academy of Neurology
Editorial Boards:
1.
Current Opinion in Neurology, Editorial Board Medlink in Neurology, Editorial Board
Patents:
1.
NONE
Publishing Royalties:
1.
Elsevier Publishers. Lippincott Publishers.
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
Isis Pharmaceuticals Ultragenyx Pharmaceuticals
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
Santhera Pharmaceuticals Isis Pharmaceuticals Ultragenyx Pharmaceuticals
Research Support, Government Entities:
1.
NINDS, NICHD, DoD
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
SMA Foundation. The Colleen Giblin Foundation. The Will Foundation The Pediatric Neurotransmitter Disease Association The Glut1 Deficiency Foundation
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
Expert witness.
View all articles by this author

Notes

Correspondence to Dr. Finkel: [email protected]
All the authors are members of the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy and are members of the Muscle Study Group.
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Author Contributions

Dr. Finkel's contributions include drafting/revising the manuscript for content, study concept and design, analysis and interpretation of data, acquisition of data, study supervision or coordination, and obtaining funding. Dr. McDermott's contributions include drafting/revising the manuscript for content and analysis or interpretation of data. Dr. Kaufmann's contributions include drafting/revising the manuscript for content, study concept or design, analysis or interpretation of data, acquisition of data, study supervision or coordination, and obtaining funding. Dr. Darras' contributions include drafting/revising the manuscript for content, study concept or design, acquisition of data, study supervision or coordination, and obtaining funding. Dr. Chung's contributions include revising the manuscript for content and data acquisition. Dr. Sproule's contributions include drafting/revising the manuscript for content, study concept or design, analysis, interpretation of data, acquisition of data, and study supervision or coordination. Dr. Kang's contributions include data acquisition and revision of the manuscript for content. Dr. Foley's contributions include review/revision of the manuscript and data acquisition. Dr. Yang's contributions include review/revision of the manuscript and data acquisition. William Martens' contributions include revising the manuscript for content, analysis or interpretation of data, and data acquisition. Dr. Oskoui's contributions include revising the manuscript for content and data acquisition. Allan Glanzman's contributions include review/revision of the manuscript and data acquisition. Jean Flickinger's contributions include drafting/revising the manuscript for content and data acquisition. Jacqueline Montes' contributions include drafting/revising the manuscript for content, study concept or design, analysis or interpretation of data, acquisition of data, and study supervision or coordination. Sally Dunaway's contributions include revising the manuscript for content and data acquisition. Jessica O’Hagen's contributions include revising the manuscript for content, data acquisition, and study supervision or coordination. Janet Quigley's contributions include review/revision of the manuscript and data acquisition. Susan Riley's contributions include review/revision of the manuscript and data acquisition. Maryjane Benton's contributions include review/revision of the manuscript, analysis or interpretation of data, data acquisition, and study supervision or coordination. Patricia Ryan's contributions include revising the manuscript for content and data acquisition. Megan Montgomery's contributions include review/revision of the manuscript for content, data acquisition, and study supervision or coordination. Jonathan Marra's contributions include review/revision of the manuscript and data acquisition. Dr. Gooch's contributions include drafting/revising the manuscript for content, study concept or design, acquisition of data, and study supervision or coordination. Dr. De Vivo's contributions include drafting/revising the manuscript for content, study concept or design, analysis or interpretation of data, acquisition of data, study supervision or coordination, and obtaining funding.

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