Abstract
Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 507-520 |
| Number of pages | 14 |
| Journal | Neurology: Clinical Practice |
| Volume | 8 |
| Issue number | 6 |
| DOIs | |
| State | Published - Dec 1 2018 |
ASJC Scopus subject areas
- Clinical Neurology
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Consensus-based care recommendations for adults with myotonic dystrophy type 1. / Ashizawa, Tetsuo; Gagnon, Cynthia; Groh, William J. et al.
In: Neurology: Clinical Practice, Vol. 8, No. 6, 01.12.2018, p. 507-520.Research output: Contribution to journal › Review article › peer-review
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TY - JOUR
T1 - Consensus-based care recommendations for adults with myotonic dystrophy type 1
AU - Ashizawa, Tetsuo
AU - Gagnon, Cynthia
AU - Groh, William J.
AU - Gutmann, Laurie
AU - Johnson, Nicholas E.
AU - Meola, Giovanni
AU - Moxley, Richard
AU - Pandya, Shree
AU - Rogers, Mark T.
AU - Simpson, Ericka
AU - Angeard, Nathalie
AU - Bassez, Guillaume
AU - Berggren, Kiera N.
AU - Bhakta, Deepak
AU - Bozzali, Marco
AU - Broderick, Ann
AU - Byrne, Janice L.B.
AU - Campbell, Craig
AU - Cup, Edith
AU - Day, John W.
AU - De Mattia, Elisa
AU - Duboc, Denis
AU - Duong, Tina
AU - Eichinger, Katy
AU - Ekstrom, Anne Berit
AU - Van Engelen, Baziel
AU - Esparis, Belen
AU - Eymard, Bruno
AU - Ferschl, Marla
AU - Gadalla, Shahinaz M.
AU - Gallais, Benjamin
AU - Goodglick, Todd
AU - Heatwole, Chad
AU - Hilbert, James
AU - Holland, Venessa
AU - Kierkegaard, Marie
AU - Koopman, Wilma J.
AU - Lane, Kari
AU - Maas, Daphne
AU - Mankodi, Ami
AU - Mathews, Katherine D.
AU - Monckton, Darren G.
AU - Moser, David
AU - Nazarian, Saman
AU - Nguyen, Linda
AU - Nopoulos, Peg
AU - Petty, Richard
AU - Phetteplace, Janel
AU - Puymirat, Jack
AU - Raman, Subha
AU - Richer, Louis
AU - Roma, Elisabetta
AU - Sampson, Jacinda
AU - Sansone, Valeria
AU - Schoser, Benedikt
AU - Sterling, Laurie
AU - Statland, Jeffrey
AU - Subramony, S. H.
AU - Tian, Cuixia
AU - Trujillo, Careniña
AU - Tomaselli, Gordon
AU - Turner, Chris
AU - Verma, Aparajitha
AU - White, Molly
AU - Winblad, Stefan
N1 - Funding Information: T. Ashizawa serves on scientific advisory boards for the Myotonic Dystrophy Foundation, NIH, and National Ataxia Foundation; has received funding for travel from Biohaven, PacBio, and NIH; receives research support from Myotonic Dystrophy Foundation, National Ataxia Foundation, Biohaven Pharmaceuticals, Biogen, and NIH/NINDS; he is associated with Weill Cornell Medical College (Professor), Baylor College of Medicine (Adjunct Professor), Central South University, China (Guest Faculty). C. Gagnon has received speaker honoraria from Biogen Idec; and receives research support from Bioblast Pharma, Ataxia Charlevoix-Saguenay Foundation, Fondation de ma vie, and Fonds de dotation santé Jonquière. W.J. Groh serves on the editorial board of Heart Rhythm Journal; serves as Chief of Medicine for VAMC and Cardiology Physician for Medical University of South Carolina; and receives research support from Biogen. L. Gutmann has received speaker honoraria from UC San Diego; receives publishing royalties from Up-to-Date Online; and receives research support from Alexion, NIH, and Charcot Marie Tooth Association. N. Johnson serves on scientific advisory boards for Cytokinetics, AveXis, AMO Pharma, and Biogen Idec; has received funding for travel and/or speaker honoraria from Strongbridge; serves as a consultant for AMO Pharma, AveXis, and Vertex Pharma; and receives research support from Ionis Pharmaceuticals, Biogen Idec, Valerion Therapeutics, Cyto-kinetics, Acceleron, AveXis, AMO Pharma, NIH/NINDS, FDA, Muscular Dystrophy Association, and Myotonic Dystrophy Foundation. G. Meola reports no disclosures. R. Moxley, III serves on scientific advisory boards for NIH/ NINDS and Myotonic Dystrophy Foundation; and receives research support from Ionis, NIH (NCRR, NCI), FDA, Saunders Family Foundation, and Abrams Family Fund. S. Pandya receives research support from NIH and CDC. M.T. Rogers reports no disclosures. E. Simpson receives publishing royalties for Case Files for Neurology, 3rd Edition (McGraw Hill, 2017); serves on speakers’ bureaus for Alexion and Grifols; and holds an endowed chair supported by philanthropic donations. N. Angeard reports no disclosures. G. Bassez serves on scientific advisory boards for Lupin pharmaceuticals, AFM-Telethon, and Myotonic Dystrophy Foundation; serves as a consultant for Lupin pharmaceuticals; and receives research support from FP7 EU, AFM-Telethon, and Myotonic dystrophy registry. K. Berggren serves on a scientific advisory board for Biogen; and receives funding for travel and/or speaker honoraria from HDSA and FSH Society. D. Bhakta reports no disclosures. M. Bozzali serves as an Associate Editor for Journal of Alzheimer’s disease and Frontiers Cellular Neuroscience; and receives research support from the Italian Ministry of Health. A. Broderick reports no disclosures. J.L.B. Byrne receives publishing royalties for Diagnostic Imaging: Obstetrics, 3rd Edition (Elsevier, 2016). C. Campbell serves on scientific advisory boards for Catabasis and PTC Therapeutics; and receives research support from Valerion Pharmaceuticals, PTC Therapeutics, Pfizer, Ionis, Eli Lilly, Prosensa, Child Health Foundation, and Jesse’s Journey Foundation. E. Cup receives research support from Prinses Beatrix Spierfonds and ZonMw DoelmatigheidsOnderzoek. J.W. Day serves on scientific advisory boards for NIH, PPMD, and Marathon Pharmaceuticals; has received gifts for research from family benefactors; has served as a consultant for Biogen, Sarepta, AveXis, and Cytokinetics; has received funding for travel and/ or speaker honoraria from Cytokinetics, Biogen, Roche, AveXis, Isis Pharmaceuticals, Spinal Muscular Atrophy Foundation, Parent’s Project Muscular Dystrophy, Myotonic Dystrophy Foundation, American Association of Pediatrics, PPMD, Carrel-Krusen Organization, and AMO: is author on a patent re: (1) Myotonic Dystrophy type 2 genetic testing and (2) Spinocerebellar Ataxia type 5 genetic testing; serves as a consultant for Isis, Biogen, Cytokinetics, Sarepta Therapeutics, PTC Therapeutics, AveXis, Santhera, and Pfizer; receives research support from Genzyme, Isis, Sarepta, Cytokinetics, AveXis, Biogen, Bristol-Myers, Roche, PTC Therapeutics, Wave Therapeutics, NIH/NINDS, Muscular Dystrophy Association, Myotonic Dystrophy Foundation, Spinal Muscular Atrophy Foundation, and CureSMA; and receives royalty payments for DM2 genetic testing and SCA5 genetic testing from Athena Diagnostics. E. De Mattia, D. Funding Information: Duboc, and T.T. Duong report no disclosures. K. Eichinger has received funding for travel from the FSH Society and the Myotonic Dystrophy Foundation; and serves as a consultant for Ionis Pharmaceuticals, Biogen, and Acceleron Pharmaceuticals. A.-B. Ekstrom reports no disclosures. B.G.M. van Engelen serves as a consultant and clinical advisor for Fulcrum; Is author on a patent re: an IBM-specific autoantibody licensed to Euroimmun; and receives institutional support from the Radboud University Medical Centre and grant support from European Union’s Horizon 2020 research and innovation programme (Murab), European Union 7th Framework Programme (OPTIMISTIC), the Netherlands Organisation for Scientific Research (NWO), The Netherlands Organisation for Health Research and Development (ZonMw), Global FSH, Prinses Beatrix Spierfonds, Spieren voor Spieren, Association Francaise contre les Myopathies, and the Dutch FSHD Foundation. B. Esparis reports no disclosures. B. Eymard has received funding for travel and/or speaker honoraria from LFB, Biogen, and BioMarin; serves as a consultant for Sarepta Pharmaceutics; and receives research support from AFM-Telethon. M. Ferschl reports no disclosures. S.M. Gadalla serves as Editor of International Journal of Chronic Diseases; and is an employee of the NIH whose work is supported by the Intramural Program of the National Cancer Institute. B. Gallais has received funding for travel from the Myotonic Dystrophy Foundation and receives research support from the Myotonic Dystrophy Foundation and Wyck Foundation. T. Goodglick reports no disclosures. C. Heatwole serves on scientific advisory boards for Biogen; has received funding for travel from Myotonic Dystrophy Foundation; serves as a consultant for Imedecs, Maximus, Johns Hopkins University, Biogen, Atyr, Ionis, Acceleron, Cytoki-netics, ExpansionRX, AMO, and the Marigold Foundation; receives research support from Pfizer, Technology Development Fund (University of Rochester), Cure Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis Association, Huntington Study Group/NJ Cure HD Foundation, NIH (NIAMS, NINDS), and United States Food and Drug Administration; has royalties for use of the Myotonic Dystrophy Health Index (MDHI), a disease-specific patient-reported outcome measure for use in clinical trials and royalties from licensing instruments for FSHD, congenital DM1, CMT, SMA, and Huntington disease; and has participated in medico-legal cases. J. Hilbert receives research support from Biogen, NIH, Abrams Family Fund, FSH Society, and Friends of FSH Research. V. Holland serves on a scientific advisory board for and received funding for travel from Hill Rom; contracts with the Houston Methodist Neurologic Institute as a pulmonary specialist; serves on the speakers’ bureau for Bureaus AANEM; and has served as an expert witness in a legal case regarding environmental exposures. M. Kierkegaard serves on a scientific advisory board for OPTIMISTIC; has received funding for travel from OPTIMISTIC and Muscular Dystrophy Foundation; and receives research support from Karolinska Institutet Foundation, Neuro Sweden, Einar Belvén Foundation, and Réseau provincial de recherché en adaptation. W.J. Koopman, K. Lane, and D. Maas report no disclosures. A. Mankodi receives support from NINDS Intramural Research Funds. K.D. Mathews serves on scientific advisory boards for NIAMS, Santhera, Sarepta, BMS, and Muscular Dystrophy Foundation; has received funding for travel from Santhera, Sarepta, and Bristol-Meyer-Squibb; serves as a consultant for Serepta Therapeutics, Bristol-Meyer-Squibb, and Santhera; and receives research support from PTC Therapeutics, Sarepta Therapeutics, Pfizer, Fibrogen, Roche, Intalfarmaco, Reata, Takeda, NIH Centers for Disease Control and Prevention, and Friedreich’s Ataxia Research Alliance. D.G. Monckton serves on scientific advisory boards for AMO Pharma, the Myotonic Dystrophy Support Group, the UK Myotonic Dystrophy Registry, and Myotonic Dystrophy Foundation; has received finding for travel and/or speaker honoraria from Cure Huntington Disease Initiative, European Huntington Disease Network, Muscular Dystrophy UK, University of Munich, European Neuromuscular Centre, Myotonic Dystrophy Support Group, Scottish Church Theological Society, Oxford Global, University of Iowa, 9th International Unstable Microsatellites and Human Disease Conference, Cardiff University, Vertex Pharmaceuticals, Charles River, NHS Scotland, and Biotexcel; serves as a consultant for AMO Pharma and Biogen Idec; receives research support from AMO Pharma, NIH, Cure Huntington Disease Initiative, European Huntington Disease Network, Muscular Dystrophy UK, Myotonic Dystrophy Support Group, Wellcome Trust, and Chief Scientist’s Office (Scotland). D. Moser receives research support from NIH/NINDS. S. Nazarian has received speaker honoraria from Boston Scientific Inc.; serves on editorial boards for Heart Rhythm Journal and Circulation, Arrhythmia and Electrophysiology; serves as a consultant for Boston Scientific, ImriCor, Siemens, CardioSolv, and St Jude Medical; is a clinical cardiac electrophysiologist and occasionally asked to provide arrhythmia care, including electrophysiology studies, and pacemaker or ICD implantation for DM1 patients; and receives research support from Siemens, ImriCor, Biosense Webster, and NIH/NHLBI. L. Nguyen serves on a scientific advisory board for Allergan; receives publishing royalties from Up to Date; and serves as a consultant for Theravance and Genentech. P. Nopoulos receives research support from NIH (NIDCR, NINDS, NHLBI). R. Petty has received funding for travel from Myotonic Dystrophy Support Group UK. J. Phetteplace serves as a consultant for My Gene Counsel and her salary is partially funded through the Muscular Dystrophy Association. J. Puymirat and S. Raman report no disclosures. L. Richer has received funding for travel from the Myotonic Dystrophy Foundation. E. Roma reports no disclosures. J. Sampson has received funding for travel from the Myotonic Dystrophy Foundation and has provided expert testimony, not related to industry. V. Sansone reports no disclosures. B. Schoser serves on scientific advisory boards for and received funding for travel from Sanofi-Genzyme, Biomarin, Amicus Therapeutics, and Audentes Therapeutics; serves on the editorial boards for Neuromuscular Disorders and Journal of Neuromuscular Disorders and as Section Editor: for Current Opinion in Neurology. L. Sterling reports no disclosures. J. Statland serves on scientific advisory boards for Sarepta, PTC, and Acceleron; has received funding for travel and/or speaker honoraria from Strongbridge; serves as a consultant for Acceleron, Fulcrum, Regeneron, and Expansion; and receives research support from NIH/NINDS and FSH Society. S.H. Subramony receives publishing royalties for Handbook of Clinical Neurology (Elsevier, 2011); performs clinical electrophysiology (20% effort) at University of Florida Department of Neurology; and receives research support from Inonis, Reata, Horizon, Biohaven, Pharnext, Acceleron, Medosome Biotec, NIH, US FDA, Friedreich Ataxia Research Alliance, Muscular Dystrophy Association, Myotonic Dystrophy Wyck Foundation, and National Ataxia Foundation. C. Tian reports no disclosures. C. Trujillo serves on scientific advisory boards for Sarepta Therapeutics and Biogen. G. Tomaselli serves on a scientific advisory board for Amgen; serves on the editorial board for Journal of Clinical Investigation; and receives research support from NIH and Maryland Stem Cell Research Fund. C. Turner serves on the steering committee of the UK Myotonic Dystrophy National registry; has received speaker honoraria from Genzyme; serves on the editorial board for Neuromuscular Disorders; receives research support from Genzyme, NIHR, and LCRN; and has participated in medico-legal cases. S. Venance receives publishing royalties for Neurology in Practice. Neuromuscular Disorders (Wiley-Blackwell, 2011). A. Verma’s spouse is on the speakers’ bureau for UCB, Sunovion, Lundbeck, and Eisai Pharmaceuticals. M. White and S. Winblad report no disclosures. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp. Publisher Copyright: Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
PY - 2018/12/1
Y1 - 2018/12/1
N2 - Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.
AB - Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.
UR - http://www.scopus.com/inward/record.url?scp=85060818972&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85060818972&partnerID=8YFLogxK
U2 - 10.1212/CPJ.0000000000000531
DO - 10.1212/CPJ.0000000000000531
M3 - Review article
AN - SCOPUS:85060818972
VL - 8
SP - 507
EP - 520
JO - Neurology: Clinical Practice
JF - Neurology: Clinical Practice
SN - 2163-0402
IS - 6
ER -