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February 1, 2019
Open Access

GNE genotype explains 20% of phenotypic variability in GNE myopathy

Oksana Pogoryelova, PhD, Ian J. Wilson, PhD, Hank Mansbach, MD, Zohar Argov, MD, Ichizo Nishino, PhD, and Hanns Lochmüller, MDAuthors Info & Affiliations
February 2019 issue
5 (1)
https://doi.org/10.1212/NXG.0000000000000308
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Publication history

Received by Neurology September 7, 2018. Accepted in final form December 20, 2018.

Information & Authors

Information

Published In

Neurology® Genetics
Volume 5 • Number 1 • February 2019

Copyright

Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Publication History

Received: September 7, 2018
Accepted: December 20, 2018
Published online: February 1, 2019
Published in print: February 2019

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Disclosure

O. Pogoryelova has served as a clinical trial investigator for Ultragenyx Pharmaceutical Inc. I. J. Wilson reports no disclosures. Z. Argov was a consultant for Ultragenyx Pharmaceutical and was Special Medical Advisor for CEO of BioBlast Pharma. The GNE research at Hadassah received grants from AFM, NDF, ISF, and GIF. I. Nishino was an advisor for Ultragenyx Pharmaceutical. The GNE myopathy research is supported currently by Intramural Research Grant (29-4 and 29-3) for Neurological and Psychiatric Disorders of NCNP; AMED under grant numbers JP17ek0109285h0001, JP17ek0109085h0003, JP17ek0109196h0001, and JP17kk0205001s0202; and Health, Labour and Welfare Sciences Research Grants (H29-Nanchito (Nan)-Ippan-030); and was previously by Health, Labour and Welfare Sciences Research Grants, Patients Association for Distal Myopathies, and Neuromuscular Disease Foundation. H. Mansbach is employed and holds stock options with Ultragenyx Pharmaceutical Inc. H. Lochmüller has served as a clinical trial investigator for Ultragenyx Pharmaceutical Inc. Financial support to the Newcastle University and the Newcastle NHS Trust for research projects and clinical trials by AMO Pharmaceuticals, Biogen, GW Pharma, Pfizer, PTC Therapeutics, Roche, and Ultragenyx. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

Study Funding

No targeted funding reported.

Authors

Affiliations & Disclosures

Oksana Pogoryelova, PhD*
From the Institute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center—University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
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
Ian J. Wilson, PhD*
From the Institute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center—University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
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
Hank Mansbach, MD
From the Institute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center—University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
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.
Ultragenyx; VP, Global Clinical Development; 3.5 years
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.
Ultragenyx
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
Zohar Argov, MD
From the Institute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center—University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
Sanofi Genzyme- speaker honorarium and travel
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.
German Israel fund for research about hereditary inclusion body myopathy (HIBM)
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
Ichizo Nishino, PhD
From the Institute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center—University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Disclosure
Scientific Advisory Boards:
1.
(1) Ultragenyx (2) Novartis
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
(1) Sanofi, Speaker honoraria (2) Daiichi-Sankyo, Speaker honoraria (3) Japan Blood Products Organization, Speaker honoraria (4) Astellas Pharma, Speaker honoraria
Editorial Boards:
1.
(1) Neuromuscular Disorders, Associate Editor, 9 years (2) Neurology and Clinical Neuroscience, Associate Editor, 5 years (3) Therapeutic Advances in Neurological Disorders, Editorial Board, 9 years (4) Journal of the Neurological Sciences, Editorial Board, 5 years (5) Skeletal Muscle, Editorial Board, 4 years (6) Journal of Neuromuscular Diseases, Editorial Board, 4 years
Patents:
1.
(1) Clinical utility of IP-10 measurement in inflammatory myopathy patients
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.
(1) Astellas, (2) Daiichi-Sankyo, (3) Sanofi
Research Support, Government Entities:
1.
(1) Intramural Research Grant for Neurological and Psychiatric Disorders of NCNP, 29-4, PI, FY2017-2019 (2) Practical Research Project for Rare / Intractable Diseases from Japan Agency for Medical Research and Development (AMED); 17ek0109285h0001; PI; FY2017-2019 (3) The Integrated Database Construction Program for Clinical Genome Informatics from Japan Agency for Medical Research and Development (AMED); 17kk0205001s0202; Co-PI; FY2016-2019
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
Hanns Lochmüller, MD
From the Institute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center—University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Disclosure
Scientific Advisory Boards:
1.
(1) German Duchenne parents project (2)IRDiRC Interdisciplinary Scientific Committee (3)German Muscular Dystrophy Network (4) Myotubular Trust Patient Registry (5) Action Duchenne Patient Registry (6) German Patient Registries on DMD and SMA
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
(1) Journal of Neuromuscular Diseases, Editor in Chief, 2014-current (2)Journal of Neurology, Editorial Board Member, 2007-current
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
(1)Roche Pharmaceuticals (2)Ultragenyx Pharmaceutical Inc. (3)AMO Pharma (4)Sarepta (5) Santhera
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
(1) Ultragenyx Pharmaceutical Inc (2) AMO Pharma (3) GW Pharma
Research Support, Government Entities:
1.
(1)European Commission (RD-Connect), 305444, Coordinator, 2012-2018 (2) European Commission (OPTIMISTIC), 305697, co-investigator, 2012-2016 (3)European Commission (NeurOmics), 305121, co-investigator, 2012-2017 (4)Medical Research Council (MRC), co-investigator, 2013-2018 (5)Wellcome Trust Pathfinder Award, 2016-2017
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
(1)Action Duchenne, (2) Association Francaise Contre les Myopathies (3)British Heart Foundation (4)Muscular Dytrophy UK (5)National Cancer Institute (6) Spinal Muscular Atrophy Support UK (7)Wellcome Trust (8)Jennifer Trust (9)Duchenne Parent Project
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

Notes

Correspondence Dr. Pogoryelova [email protected]
*
Contributed equally to the study.
Supported by TREAT-NMD operating grants, FP6 LSHM-CT-2006-036825, 20123307 UNEW FY2013, and AFM 16104. Further support came from the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 305444 (RD-Connect) and Medical Research Council, UK (reference G1002274, grant ID 98482).
Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.
The Article Processing Charge was funded by the RCUK.

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