Consensus-based care recommendations for adults with myotonic dystrophy type 2
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Article Information
- Received December 10, 2018
- Accepted February 18, 2019
- First Published April 24, 2019.
Article Versions
- Previous version (April 24, 2019 - 12:45).
- You are viewing the most recent version of this article.
Author Disclosures
- Benedikt Schoser, MD,
- Federica Montagnese, MD,
- Guillaume Bassez, MD, PhD,
- Barbara Fossati, MD,
- Josep Gamez, MD, PhD,
- Chad Heatwole, MD,
- James Hilbert, MS,
- Cornelia Kornblum, MD,
- Anne Kostera-Pruszczyk, MD, PhD,
- Ralf Krahe, PhD,
- Anna Lusakowska, MD, PhD,
- Giovanni Meola, MD,
- Richard Moxley III, MD,
- Charles Thornton, MD,
- Bjarne Udd, MD, PhD,
- Paul Formaker,
- on behalf of the Myotonic Dystrophy Foundation
- Benedikt Schoser, MD,
(1) Sanofi-Genzyme Global Pompe advisory board (1) Biomarin Pharmaceutica Global Pompe advisory board (1) Amicus Therapeutics Global advisory board (1) Audentes Therapeutics Global neuromsuclar advisory board (1) Nexien Biopharm Scientific advisor (1) Lupin therapeutics Global advisory board
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(1) Sanofi-Genzyme Global Pompe advisory board: travel support (1) Biomarin Pharmaceutica Global Pompe advisory board: travel support (1) Amicus Therapeutics Global advisory board: travel support (1) Audentes Therapeutics Global neuromsuclar advisory board: travel support (1) Lupin therapeutics Global advisory board: travel support
Editorial advisory board member: Neuromuscular disorders (no compensation) Journal of Neuromuscular disorders (no compensation) Section editor: Current opinion in Neurology (no compensation)
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- Federica Montagnese, MD,
Served on a scientific advisory board organized by Lupin Europe GmbH for the approval of mexiletin for the treatment of myotonia.
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- Guillaume Bassez, MD, PhD,
(1) Lupin pharmaceuticals, scientific advisory board, commercial entity (2) AFM-Telethon, scientific advisory board, non-profit entity (3) Myotonic Dystrophy Fondation, scientific advisory board, non-profit entity
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(1) Myotonic Dystrophy Fondation, non-profit entity, travel (2) Sanofi-Genzyme, commercial, travel
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(1) Lupin pharmaceuticals, commercial entity, consulting honoraria
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FP7 EU grant- Optimistic study
AFM-Telethon Foundation grant-Myotonic dystrophy registry
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- Barbara Fossati, MD,
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- Josep Gamez, MD, PhD,
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- Chad Heatwole, MD,
Biogen: Functional Outcome Measures for Teen and Adult Patients with SMA Advisory Board.
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Myotonic Dystrophy Foundation: Funded airfare for research project in Italy.
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I have recieved royalties for the use of the Myotonic Dystrophy Health Index (MDHI) a disease-specific patient reported outcome measure for use in clinical trials. I have also received royalties from the licensing of my instruments for FSHD, congenital DM1, CMT, SMA, and Huntington's disease.
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Consultant to Imedecs, Maximus, Johns Hopkins University, Biogen, Atyr, Ionis, Acceleron, Cytokinetics, ExpansionRX, AMO, and the Marigold foundation.
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Pfizer provided study drug (rHGH) for a RO1 funded study.
National Institutes of Health (NINDS) STARFiSH: Study of Testosterone and rHGH in FSHD: A Proof- of-Concept Study 2017-2021 PI National Institutes of Health Paul Wellstone Muscular Dystrophy Cooperative Research Center Umbrella Center (MDCRC) U54NS048843 September 2013 ? present Co-Investigator United States Food and Drug Administration Mexiletine Treatment in Myotonic Dystrophy Type-1 R01FD003716 June 2011 ? 2017 PI
Technology Development Fund (University of Rochester) Development of a Disease-specific instrument for Lung Cancer 2018-2020 University of Rochester PI Technology Development Fund (University of Rochester) Development of a Disease-specific instrument for Crohn?s Disease University of Rochester 2017-2018 PI
Development of Disease-Specific Patient Reported Outcome Measures for Duchenne Muscular Dystrophy Therapeutic Trials Muscular Dystrophy Association 2018-2020 PI Cure Spinal Muscular Atrophy 1/15/2018-1/15/2020 PI Amyotrophic Lateral Sclerosis Association Development of a Clinically Relevant Outcome Measure for ALS Therapeutic Trials 1/1/18- 12/31/20 PI Huntington Study Group/ NJ Cure HD Foundation Development of the Huntington Disease Health Index. 2017-2019 PI Cure SMA Development of a Clinically Relevant Outcome Measure for SMA Therapeutic Trials June 2015- June 2018 PI Clinically Relevant Disease Specific Patient Reported Outcome Measures for use in Friedreich?s Ataxia Therapeutic Trials and FDA Drug Labeling Claims Friedreich?s Ataxia Research Alliance (FARA) 2018-2020 PI
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I have recieved license fee payments for the Myotonic Dystrophy Health Index (MDHI) and other disease-specific PROs through the University of Rochester
Inventor and author of the Myotonic Dystrophy Health Index (MDHI) and FSHD Health Index (FSHDHI). I have also received royalties from the licensing of my instruments for congenital DM1, CMT, SMA, and Huntington's disease. Future royalties may be obtained from my instruments related to DM2, crohn's disease, ALS, pediatric SMA, and lung cancer.
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1) Legal Med, Independent Medical Examinations. 2017 to present. 2) Barclay Damon, Independent Medical Examination. 2017 to present. 3) Matis Baum O'Connor; Record review. 2017.
- James Hilbert, MS,
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1.) NIH, #P50NS048843, Study Coordinator, 2010-2019.
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Abrams Family Fund, Cure SMA, Friends of FSH Research, FSH Society, and Saunders Family Foundation
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- Cornelia Kornblum, MD,
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(1) Commercial company: Sanofi-Genzyme, travel funding (2) Commercial company: Sanofi-Genzyme, speaker honoraria (3) Commercial company: Santhera, speaker honoraria (4) Commercial company: Novartis, speaker honoraria (5) Commercial company: Novartis, travel funding (6) Commercial company: Stealth BioTherapeutics, travel funding (7) Non-profit organisation: Deutsche Gesellschaft f?r Muskelkranke e.V., travel funding (8) Non-profit organisation: Marigold Foundation, Canada, travel funding
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(1) Commercial company: Stealth BioTherapeutics, honoraria for clinical advisory board activity (two meetings, 10/2016-02/2017)
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(1) Stealth Biotherapeutics, Principal Investigator SPIMM- 300 and SPIMM-301
(1) BMBF (German Federal Ministry of Education and Research), mitoNET, BMBF - 01GM0862, patient recruitment, 2010 - 2015
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(1) Non-profit organisation: Marigold Foundation, Canada (2) Non-profit-organisation: Deutsche Gesellschaft f?r Muskelkranke e.V., grant number Me4/1, since 2014
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- Anne Kostera-Pruszczyk, MD, PhD,
Scientific Advisory Board for Biogen, PTC, Sarepta, Shire
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personal compensation from Kedrion, Baxter/Shire, CSL Behring, Sanofi Aventis
Neurology, Neurosurgery and Psychiatry Journal
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- Ralf Krahe, PhD,
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PLOS ONE, academic editor, 5 yrs
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- Anna Lusakowska, MD, PhD,
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- Giovanni Meola, MD,
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- Richard Moxley III, MD,
1)NIH/NINDS Steering Committee for Common Data Elements 2)NIH/NINDS Committee on the Development of Neuromuscular Common Data Elements 3)NIH Sub-Committee on Myotonic Dystrophy for Common Data Elements 4) Data Safety Monitoring Board for active studies of CINRG 5) Scientific Advisory Board for Myotonic Dystrophy Foundation
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Ionis Pharmaceuticals, site PI, 2014-2016
(1) NIH, U54NS48843, PI, 10/1/03-8/30/18 (2) NCRR/NIH, 1UL 1RR02416002, Co-Dir., 10/1/06-9/30/16 (3) NIH, N01-AR-5-2274, PI, 9/30/05-9/29/10 (4) NIH/NCI, HHSN2612012003188P, PI, 9/01/2012-06/30/2015 (5) NIH, 1 R13 NS093860-01, PI, 6/1/15-5/31/16 (6) FDA, R01 FD003716-04, PI, 06/05/2006-05/31/2017
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The Saunders Family Foundation The Abrams Family Fund
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- Charles Thornton, MD,
(1) NIH data safety monitoring board (2) Scientific Advisory Board of the Myotonic Dystrophy Foundation (3) Dyne, Scientific Advisory Board
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University of Florida, funding for travel; University of Michigan, funding for travel; American Association of Neurololgy, funding for travel; Muscular Dystrophy Association, funding for travel; Myotonic Dystrophy Foundation, funding for travel; World Muscle Society, funding for travel; Fulcrum Therapeutics, funding for travel, Dyne Therapeutics, funding for travel; Lion Therapeutics, funding for travel; Nature Conferences, funding for travel
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(1) Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression (2) Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy (3) Methods and Compositions for Treatment of Diseases Associated with Aberrant Microsatellite Expansion
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(1) Isis Pharmaceuticals, consultant (2) Biogen Inc., consultant
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(1) Sponsored research support from from Isis Pharmaceuticals (2) Sponsored research support from Biogen Inc.
NIH NS48843, PI; NIH NS094393, PI; NIH NS093177, PI
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(1) model of myotonic dystrophy, Isis Pharmaceuticals
(1) Licensing for mouse model of myotonic dystrophy,
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- Bjarne Udd, MD, PhD,
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Neuromuscular Disorders, editorial board member, 14 years and associate executive Editor 4 years
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Finnish Academy grant for the study of distal myopathies 2005-2010 Finnish Academy grant for the study of distal myopathies 2011-2014 Finnish Academy grant for the study of titinopathies 2015-2019
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the Sigrid Juselius foundation grant for the study of distal myopathies 2017-2019 the Jane and Aatos Erkko foundation for NGS in undetermined myopathies 2018-20
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- Paul Formaker,
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- on behalf of the Myotonic Dystrophy Foundation
- Ludwig-Maximilians- Universität (BS); Friedrich-Baur-Institut (FM), Munich, Germany; Institut de Myologie (GB), Paris, France; U.O. Neurologia (BF), IRCCS Policlinico San Donato, Milan, Italy; Vall d'Hebron University Hospital (JG), Barcelona, Spain; University of Rochester (CH, JH, RM, CT), Rochester, NY; University Hospital of Bonn (CK), Germany; Medical University of Warsaw (AK-P), Poland; University of Texas (RK) MD Anderson cancer center; Medical University of Warsaw (AL), Poland; Department of Biomedical Sciences for health (GM), University of Milan, Italy; Tampere University (BU), Finland; Myotonic Dystrophy Foundation (PF), San Francisco.
- Correspondence
Paul Formaker Leah.Hellerstein{at}myotonic.org
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