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January 2019; 6 (1) ArticleOpen Access

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

Payam Mohassel, Océane Landon-Cardinal, A. Reghan Foley, Sandra Donkervoort, Katherine S. Pak, Colleen Wahl, Robert T. Shebert, Amy Harper, Pierre Fequiere, Matthew Meriggioli, Camilo Toro, Daniel Drachman, Yves Allenbach, Olivier Benveniste, Anthony Béhin, Bruno Eymard, Pascal Lafôret, Tanya Stojkovic, Andrew L. Mammen, Carsten G. Bönnemann
First published December 12, 2018, DOI: https://doi.org/10.1212/NXI.0000000000000523
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Article Information

vol. 6 no. 1 e523
DOI: 
https://doi.org/10.1212/NXI.0000000000000523
PubMed: 
30588482
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2332-7812
History: 
  • Received May 30, 2018
  • Accepted in final form October 16, 2018
  • First Published December 12, 2018.
Copyright & Usage: 
Copyright © 2018 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-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Payam Mohassel, MD*,
    2. Océane Landon-Cardinal, MD*,
    3. A. Reghan Foley, MD,
    4. Sandra Donkervoort, MS, CGC,
    5. Katherine S. Pak, MD,
    6. Colleen Wahl, FNP, DNP,
    7. Robert T. Shebert, MD,
    8. Amy Harper, MD,
    9. Pierre Fequiere, MD,
    10. Matthew Meriggioli, MD,
    11. Camilo Toro, MD,
    12. Daniel Drachman, MD,
    13. Yves Allenbach, MD, PhD,
    14. Olivier Benveniste, MD, PhD,
    15. Anthony Béhin, MD,
    16. Bruno Eymard, MD, PhD,
    17. Pascal Lafôret, MD, PhD,
    18. Tanya Stojkovic, MD,
    19. Andrew L. Mammen, MD, PhD and
    20. Carsten G. Bönnemann, MD
  1. Payam Mohassel, MD*,
    2. 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. National Institutes of Health, NINDS: K22 NS104135

    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

  2. Océane Landon-Cardinal, MD*,
    3. 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. O. Landon-Cardinal is the recipient of a Clinical Fellowship award from the Universit? de Montr?al Rheumatology Program - Abbvie Educational Grant.

    Research Support, Foundations and Societies:

    1. O. Landon-Cardinal is the recipient of a Clinical Fellowship award from the Association des m?decins rhumatologues du Qu?bec - Visithan-Khy Educational Grant.

    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

  3. A. Reghan Foley, MD,
    4. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Travel funding from a non-profit patient organization,

    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. I am an employee of the National Institutes of Health (NIH).

    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

  4. Sandra Donkervoort, MS, CGC,
    5. 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. Government employee

    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

  5. Katherine S. Pak, MD,
    6. 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

  6. Colleen Wahl, FNP, DNP,
    7. 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

  7. Robert T. Shebert, MD,
    8. 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. I have been, but am no longer on the Grifols speakers' bureau, unrelated to the submitted paper.

    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. Expert witness defending a personal injury lawsuit unrelated to any academic pursuit

  8. Amy Harper, MD,
    9. Scientific Advisory Boards:

    1. 10/19/18 Avexis Advisory Board Meeting

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Investigational Meeting travel for clinical research studies: TRINDS/NS Pharma, Italafarmaco, Reveragen

    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. Jett Foundation speaker, local family workshop, 3/24/18 no payment received. VCU Peds at the Beach speaker, 7/20/18, reimbursed for hotel stay and travel. VCU/CHOR MDA grant - reimbursement to travel to MDA conference.

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1. Revergan, Vision DMD, Vamorolone study, A Phase IIb Randomized, Double-blind, Parallel Group, Placebo- and Active-controlled Study to Assess the Efficacy and Safety of Vamorolone in Ambulant Boys with Duchenne Muscular Dystrophy (DMD) 2.Italfarmaco Randomized, double blind, placebo controlled, multi centre study to evaluate the efficacy and safety of givinostat in ambulant patients with Duchenne Muscular Dystrophy, Role: PI 2. Marathon Pharmaceuticals 02/06/2017-9/2017 Deflazacort Expanded Access Program for Children, Adolescents and Adults with Duchenne Muscular DystrophyRole: PI 3. NS Pharma 03/2017 - present A Phase II, Dose Finding Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NS-065/NCNP-01-201 in Boys with Duchenne Muscular Dystrophy, and extension NS-065/NCNP-202 Role: PI 4. Sarepta Therapuetics, Inc. 03/29/2012? 06/24/16 Open Label, Multiple-Dose, Efficacy, Safety, and Tolerability Study of Eteplirsen in Patients with Duchenne Muscular Dystrophy who Participated in Study 4658-US-202, Roles: PI, Sub-I 5. Sarepta Therapuetics, Inc. 11/14/2014 ? 06/24/16 An Open-Label, Multi-Center, 48-Week Study with a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy Role: PI 6.Lilly USA 07/22/2013 ? 02/2016 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy Roles: PI, Sub-I

    Research Support, Government Entities:

    1. 1.NIH/NIAMS/Children?s Research Institute P50AR060836-02 09/09/2011?06/24/2016 Core C Center for Research Translation of Systemic Exon-skipping in Muscular Dystrophy, Roles: PI, Sub-I 2. 8/2018- present SPEEDI Multi-site Trial (1R01HD093624-01A1) Role: Co-I

    Research Support, Academic Entities:

    1. Neuromuscular Research Network - Executive Committee Member, CINRG/TRINDS, non-funded position.

    Research Support, Foundations and Societies:

    1. 1. Children?s Hospital Foundation Research Fund 06/01/2017 Translational Project Congenital Muscular Dystrophy, Novel Gene Zebra Fish Model, Role: Co-PI

    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

  9. Pierre Fequiere, MD,
    10. 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

  10. Matthew Meriggioli, MD,
    11. Scientific Advisory Boards:

    1. Member of DSMB - Novartis

    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. Currently employed by Avexis/Novartis

    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

  11. Camilo Toro, MD,
    12. 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. I'm a full time employee of the NIH. This work was supported by funding from the NIH intramural program.

    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

  12. Daniel Drachman, MD,
    13. 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

  13. Yves Allenbach, MD, PhD,
    14. 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

  14. Olivier Benveniste, MD, PhD,
    15. Scientific Advisory Boards:

    1. Csl Behring Novartis LFB

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) CSL Behring: funding for travel at the ACR 2014 conference (2) LFB: funding for travel at the ICNMD 2014 conference, ACR 2017

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Novartis (2) CSL Behring (3) Neovacs

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) LFB,(2) Novartis, (3) Shire, (4) CSL Behring, (5) Neovacs

    Research Support, Government Entities:

    1. (1) DGOS/INSERM, (2) PHRC

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) AFM, (2) The Myositis Association

    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

  15. Anthony Béhin, MD,
    16. Scientific Advisory Boards:

    1. (1) Ultragenyx Pharmaceutical; (2) Genzyme

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. (1) Ultragenyx pharmaceutical - JNLF 2017, Toulouse

    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

  16. Bruno Eymard, MD, PhD,
    17. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. conferences for LFB, Biogen and BioMarin companies

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Sarepta Pharmaceutics, commercial, consultancy honoraria

    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. (1) AFM-Telethon (Association Fran?aise contre les myopathies, research grant

    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

  17. Pascal Lafôret, MD, PhD,
    18. Scientific Advisory Boards:

    1. I am member of Genzyme-Sanofi Pompe advisory board

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. I received funding for travel and speaker honoraria from Genzyme-Sanofi and Sparks therapeutics

    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. I received research supports from Genzyme-Sanofi for the French Pompe Registry, and from Valerion Therapeutics to support the Glycogenosis type III registry

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. I received fundings from French Glycogenosis Association

    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

  18. Tanya Stojkovic, MD,
    19. Scientific Advisory Boards:

    1. Ultragenyx Biogen

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. I received honororia from the laboratory

    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

  19. Andrew L. Mammen, MD, PhD and
    20. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Experimental Neurology, Editorial Board, 2013- Arthritis and Rheumatism, Editorial Board, 2014-

    Patents:

    1. I am a patent holder on a commercial test for anti-HMGCR antibodies that is licensed to INOVA diagnostics; I receive no financial compensation for this since moving to the NIH in 2014.

    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. Andrew Mammen: (1) NIAMS/NIH, 1-ZIA-AR041203, Principle Investigator, 2014-present Jennifer Mammen (wife of Andrew Mammen): (1) NIDDK/NIH, 5-K23-DK095954, Principle Investigator, 2014-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. I am a patent holder on a commercial test for anti-HMGCR antibodies that is licensed to INOVA diagnostics; I received financial compensation for this only prior to joining the NIH in 2014.

    Royalty Payments, Technology or Inventions:

    1. I am a patent holder on a commercial test for anti-HMGCR antibodies that is licensed to INOVA diagnostics; I received financial compensation for this only prior to joining the NIH in 2014.

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  20. Carsten G. Bönnemann, MD
    21. Scientific Advisory Boards:

    1. Scientific Advisory Board(1) Cure CMD, non-profit entity(2) RYR1 Foundation, non-profit entity(3) Audentes Therapeutics (no compensation)(4) DSMB for 2 Abeona Therapeutics gene therapy trials (no compensation)(5) DSMB for WAVE Therapeutics oligo therapy trial (no compensation)(6) Advisor to DSMB for Solid Therapeutics gene therapy trials (no compensation)

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. Has received travel expenses for lectures or educational activities not funded by industry

    Editorial Boards:

    1. Co-Editor-in-Chief: Journal of Neuromuscular DiseaseEditorial Board: Matrix BiologyEditorial Board: Annals of NeurologyEditorial Board: Journal Muscle Research and Cell Motility

    Patents:

    1. Listed on NINDS held patent: Diagnosing COL6-related Disorders and Methods for treating same Diagnosis and exon skipping technology for a deep intronic pseudo exon mutation in COL6A1

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. Principal investigator of the CALLISTO trial sponsored by Santhera PharmaceuticalsPrincipal investigator of the INCEPTUS and ASPIRO trials sponsored by Audentes Therapeutics

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. I am an employee of the NIH and all my research funding is from intramural NIH resources

    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

  1. From the National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
  1. Correspondence
    Dr. Bönnemann carsten.bonnemann{at}nih.gov
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