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April 2020; 6 (2) ArticleOpen Access

Mitochondrial diseases in North America

An analysis of the NAMDC Registry

Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Haas, Johan L.K. Van Hove, Fernando Scaglia, Sumit Parikh, Jirair K. Bedoyan, Susanne D. DeBrosse, Ralitza H. Gavrilova, Russell P. Saneto, Gregory M. Enns, Peter W. Stacpoole, Jaya Ganesh, Austin Larson, Zarazuela Zolkipli-Cunningham, Marni J. Falk, Amy C. Goldstein, Mark Tarnopolsky, Andrea Gropman, Kathryn Camp, Danuta Krotoski, Kristin Engelstad, Xiomara Q. Rosales, Joshua Kriger, Johnston Grier, Richard Buchsbaum, John L.P. Thompson, Michio Hirano
First published March 2, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000402
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Article Information

vol. 6 no. 2 e402
DOI: 
https://doi.org/10.1212/NXG.0000000000000402
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received June 13, 2019
  • Accepted in final form December 16, 2019
  • First Published March 2, 2020.
Copyright & Usage: 
Copyright © 2020 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. Emanuele Barca, MD, PhD,
    2. Yuelin Long, MS,
    3. Victoria Cooley, MS,
    4. Robert Schoenaker, MD, BS,
    5. Valentina Emmanuele, MD, PhD,
    6. Salvatore DiMauro, MD,
    7. Bruce H. Cohen, MD,
    8. Amel Karaa, MD,
    9. Georgirene D. Vladutiu, PhD,
    10. Richard Haas, MBBChir,
    11. Johan L.K. Van Hove, MD, PhD,
    12. Fernando Scaglia, MD,
    13. Sumit Parikh, MD,
    14. Jirair K. Bedoyan, MD, PhD,
    15. Susanne D. DeBrosse, MD,
    16. Ralitza H. Gavrilova, MD,
    17. Russell P. Saneto, DO, PhD,
    18. Gregory M. Enns, MBChB,
    19. Peter W. Stacpoole, MD, PhD,
    20. Jaya Ganesh, MD,
    21. Austin Larson, MD,
    22. Zarazuela Zolkipli-Cunningham, MD,
    23. Marni J. Falk, MD,
    24. Amy C. Goldstein, MD,
    25. Mark Tarnopolsky, MD, PhD,
    26. Andrea Gropman, MD,
    27. Kathryn Camp, MS, RD,
    28. Danuta Krotoski, PhD,
    29. Kristin Engelstad, MS,
    30. Xiomara Q. Rosales, MD,
    31. Joshua Kriger, MS,
    32. Johnston Grier, MS,
    33. Richard Buchsbaum,
    34. John L.P. Thompson, PhD and
    35. Michio Hirano, MD
  1. Emanuele Barca, MD, PhD,
    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. NAMDC fellowship (NIH U54 NS078059) 2017-2018

    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. Yuelin Long, MS,
    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. 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

  3. Victoria Cooley, MS,
    4. 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

  4. Robert Schoenaker, MD, BS,
    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. 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

  5. Valentina Emmanuele, MD, PhD,
    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. Salvatore DiMauro, MD,
    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. NICHD P01 HD32062-19 (Mitochondrial Encephalomyopathies and Mental Retardation) MDA-218924 (Therapeutic Strategies in Neutral Lipid Storage Disease with Myopathy)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF)

    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. Bruce H. Cohen, MD,
    8. Scientific Advisory Boards:

    1. 1. DSMB-Stem Cell Transplantation for MNGIE (non-profit) 2. Chairman-External Advisory Board of Clinical Protocols, Neurofibromatosis Consortium, Department of Defense 3. Dichlororacetate for Pyruvate Dehydrogenase Deficiency DSMB

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Honoraria from the AAN for speaking activities and serving as The CPT Advisor Honoraria speakers bureau for Stealth Biotherapeutics

    Editorial Boards:

    1. Editorial Board for Pediatric Neurology, unpaid Editorial Board for Mitochondrion, unpaid Editorial Board for Brain and Life, unpaid

    Patents:

    1. NONE

    Publishing Royalties:

    1. Russell P. Saneto, Sumit Parikh, Bruce H. Cohen, eds. Mitochondrial Case Studies, Underlying Mechanisms and Diagnosis. ISBN: 978-0-12-800877-5 Academic Press/Elsevier, London, 2016.

    Employment, Commercial Entity:

    1. Akron Children's Hospital, Director of The NeuroDevelopmental Science Center and Interim VP and Medical Director Rebecca D. Considine Research Institute, 9 years. Primary Employer

    Consultancies:

    1. Stealth Biotherapeutics: Commercial Modis Pharma: Commercial NeuroVive Pharmaceuticals: Commercial Mitobridge/Astellas: Commercial Reneo Pharma: Commerical

    Speakers' Bureaus:

    1. Honoraria speakers bureau for Stealth Biotherapeutics

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) BioElectron Technologies (2) Stealth Biotherapeutics (3) Reata Pharma

    Research Support, Government Entities:

    1. 1. NIH grant U54 NS078059, Investigator, 2016-2017, 2018- 2019, 2019-2024. 2. I am a consultant to Health and Human Services for the Vaccine Compensation Program and review cases and intend to provide testimony in the future.

    Research Support, Academic Entities:

    1. Northeast Ohio Medical University, Professor of Pediatrics and Professor of Integrative Medical Sciences

    Research Support, Foundations and Societies:

    1. United Mitochondrial Disease Foundation, Board of Trustees

    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. I am a consultant to Health and Human Services for the Division of Vaccine Injury Compensation Program; Government 2008-present.

  8. Amel Karaa, MD,
    9. Scientific Advisory Boards:

    1. MitoAction (non profit) United Mitochondrial Disease Foundation (non profit) NeuroVive(commercial) Reneo (commercial) MitoBridge Astellas (commercial)

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. United Mitochondrial Disease Foundation (non profit) Fabry Support and Information group (non profit) Takeda(commercial)

    Editorial Boards:

    1. NEJM Knowledge +

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. United Mitochondrial Disease Foundation (non profit)

    Other activities:

    1. President of the Mitochondrial Medicine Society (non profit) Board member of the mitochondrial care network

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Genzyme Sanofi (commercial) Reata pharmaceutical (commercial) Shire pharmaceutical (commercial) Stealth Biotherapeutics (commercial)

    Research Support, Government Entities:

    1. NIH grant U54 NS078059

    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

  9. Georgirene D. Vladutiu, PhD,
    10. Scientific Advisory Boards:

    1. Malignant Hyperthermia Association of the U.S., Board of Directors

    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. Richard Haas, MBBChir,
    11. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. 1. Stealth Biotherapeutics Travel and Hotel Costs 1. GW Pharma and Hotel Costs 1. Acadia Pharma and Hotel Costs 1.Travel for Investigator Meeting to all of the above

    Editorial Boards:

    1. Mitochondrion Editorial Board, 2019

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. 1. Stealth Biotherapeutics 1. SPARC

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical procedures or imaging studies:

    1. 1. UCSD Neurometabolic Clinic Billing for Patient care which may be in part related to treatment with Elamipretide if it becomes FDA approved

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. FDA and NIH Grant support to the University of California San Diego

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. William Wright Family Foundation donation to the UCSD 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

  11. Johan L.K. Van Hove, MD, PhD,
    12. Scientific Advisory Boards:

    1. (1) Stealth Biotherapeutics advisory board

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) The Journal of Inherited Metabolic Disease (unpaid communicating editor)

    Patents:

    1. A biomarker for pyridoxine dependent epilepsy (completely unrelated

    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. Children's Hospital Colorado Pathology Laboratory (performs mitochondrial functional assays)

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. (1) NIH U54NS078059, site PI, 2015-present - PI on pilot grant - mentor on pilot grant - project grant; (2) NIH U01 DK062453, mitochondrial core lab director, 2009-present; (3) WAMF CU12-2905, co-investigator, 2016-2017

    Research Support, Academic Entities:

    1. University of Colorado; Children's Hospital Colorado (not sure which one is mentioned)

    Research Support, Foundations and Societies:

    1. (1) Children's Hospital Colorado Foundation; (2) University of Colorado Foundation

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. (1) Technology related to Pompe disease, Genzyme (completely unrelated)

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  12. Fernando Scaglia, MD,
    13. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) BMC Medical Genetics (2) Molecular Genetics and Metabolism Reports

    Patents:

    1. NONE

    Publishing Royalties:

    1. 1. Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways, Oxford University Press, 2014

    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) BioElectron (2) Stealth (3) Raptor

    Research Support, Government Entities:

    1. (1) NIH, U54, PI, 2018-2020

    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. Sumit Parikh, MD,
    14. Scientific Advisory Boards:

    1. UMDF, SMAB member, not-for-profit entity CHAMP Foundation, SMAB member, not-for-profit entity

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. On Speaker's Bureau for UMDF, not-for-profit entity. They support travel for speaking engagements.

    Editorial Boards:

    1. Co-editor, The Mitochondrial and Metabolic Medicine (M3) journal. 2018-present. No compensation

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Cleveland Clinic, Clinical Staff/Attending, since 2004

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. UMDF, not-for-profit

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Acadia pharmaceuticals (Rett syndrome drug study) Minovia Therapeutics (Mitochondrial Disease therapy study) Stealth pharmaceuticals (Mitochondrial Disease drug study) Curemark (Autism drug study)

    Research Support, Government Entities:

    1. NIH - one site of NAMDC - part of U54 grant. Serve as site PI since 2013

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Mitochondrial Medicine Society

    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. Jirair K. Bedoyan, MD, PhD,
    15. 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. Genzyme/Sanofi

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. 9/30/2019 – 8/31/2024, NIH RDCRN 5U54 NAMDC, Cleveland Site PI 11/2014 – 10/2019 NIH 5U54NS078059-05; Project NAMDC 7413, Cleveland Site PI 09/17/2003 – 07/31/2024 NIH NICHD U54HD061221, UCDC Cleveland Site PI

    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

  15. Susanne D. DeBrosse, MD,
    16. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Alternating Hemiplegia of Childhood Foundation (non- profit), travel support

    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) NIH, 2U54 NS078059-04, site PI, 2014-2019 (2) NIH, U54 NS078059-04, site PI, 2014-2019

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Philanthropic Account for Pyruvate Dehydrogenase Complex Deficiency Research, University Hospitals Case Medical Center

    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. Ralitza H. Gavrilova, MD,
    17. Scientific Advisory Boards:

    1. Mitochondrial Medicine Society Board

    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

  17. Russell P. Saneto, DO, PhD,
    18. Scientific Advisory Boards:

    1. REATA: DSMB board for clinical trial

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Speakers Bureau, GW Pharmaceuticals, speaker honoraria

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. GW Pharmaceuticals, speaker bureau

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Stealth Biotherapeutics, site PI for clinical trial Biotherapeutics, site PI for clinical trial

    Research Support, Government Entities:

    1. NIH; U34 grant for the Natural History of Mitochondrial disease (site PI)

    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

  18. Gregory M. Enns, MBChB,
    19. Scientific Advisory Boards:

    1. (1) Audentes Therapeutics (2) BioMarin (3) Amicus (4) RegenxBio (5) Neurovia

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Moderna Therapeutics, travel

    Editorial Boards:

    1. (1) Molecular Genetics and Metabolism, editorial board member, 2005-present (2) Molecular Genetics and Metabolism Reports, editorial board, editorial board, 2013-present (3) Journal of Inborn Errors of Metabolism and Screening, editorial board, 2015-present

    Patents:

    1. (1) AMPK agonists for treatment of mitochondrial disease

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Moderna Therapeutics, (2) Horizon Pharma, (3) Glycomine, (4) HemoShear, (5)LogicBio, (6) Orphan Technologies

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Stealth Biotherapeutics, (2) Aeglea Biotherapeutics, (3) Bioelectron Technology Corporation, (4) Retrophin, Inc., (5) Horizon Therapeutics, (6) Shire Human Genetics Therapies, Inc., (7) Alexion Pharmaceuticals, Inc., (8) Genzyme Corporation

    Research Support, Government Entities:

    1. (1) NIH, 5U01HG00708-04, co-I, 2014-present, (2) FDA, R01FD005407, co-I, 2017-present, (3) NIH, 14-GG006326, co-I

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) National Urea Cycle Disease 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. (1) Hyperion Therapeutics

  19. Peter W. Stacpoole, MD, PhD,
    20. Scientific Advisory Boards:

    1. (1)

    Gifts:

    1. Basic science research grant from Saol Therapeutics

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Metabolism Editorial Adv. Board

    Patents:

    1. Development of a genotyping strategy for patients receiving dichloroacetate.

    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

  20. Jaya Ganesh, MD,
    21. 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

  21. Austin Larson, MD,
    22. 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. Stealth Biotherapeutics

    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

  22. Zarazuela Zolkipli-Cunningham, MD,
    23. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. 1. Oxygen Nanosensor to measure tissue Oxygen levels. 1065-18. 2. Methods of Treating Mitochondrial Dysfunction. 62/689.

    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. NICHD U24 Leigh syndrome gene curation grant support.

    Research Support, Foundations and Societies:

    1. United Mitochondrial Disease Foundation Early Stage Investigator Award, 2019. Spinal Muscular Atrophy Foundation (SMAF) funding support for Spinal Muscular Atrophy Natural History Study, 2016- 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

  23. Marni J. Falk, MD,
    24. Scientific Advisory Boards:

    1. 1. United Mitochondrial Disease Foundation - non-profit, chair of scientific and medical advisory board 2. Genesis Foundation - non-profit, member of scientific advisory board

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. -Speaker honorarium and travel reimbursement from New York University for grand rounds presentation in May 2019 -Travel reimbursement for speaking at grand rounds and mitochondrial medicine symposia by United Mitochondrial Disease Foundation -Travel reimbursement for attending Reneo Pharma scientific Advisory Board Meeting in December 2019

    Editorial Boards:

    1. NONE

    Patents:

    1. Not relevant to current study. 1. Patent for minimally invasive tissue oxygen nanosensor to assess mitochondrial function 2. Patent for genetic diagnostics of mitochondrial disease 3. Patent for clinical trial outcome measure in mitochondrial disease myopathy (not relevant to current study design) 4. Patent for simple model animals methodology and therapeutic leads to evaluate for mitochondrial disease therapies

    Publishing Royalties:

    1. Marni Falk, Editor. Mitochondrial Disease Genes Compendium. Elsevier. 2019 - In press.

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. 1. Stealth Biotherapeutics (completed) 2. Mitobridge (active) 3. Neurovive (completed) 4. Mission Therapeutics (active) 5. Cyclerion (active) 6. Imel Therapeutics (planned)

    Speakers' Bureaus:

    1. United Mitochondrial Disease Foundation (non-profit)

    Other activities:

    1. Co-founder, MitoCUREia, Inc. (2019)

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1. Stealth Biotherapeutics 2. Neurovive 3. RiboNova, Inc. 4. Reata Therapeutics 5. Raptor Therapeutics 6. AADI Bio

    Research Support, Government Entities:

    1. 1. NIH, 5R01GM120762-08, PI, 8/16-6/20 2. NIH, 3R01GM120762-08S1, PI, 9/18-8/20 3. NIH, 5R01GM115730-03, PI, 10/15-9/19 4. NIH, U24-HD093483-01, PI, 7/17-6/20 5. NIH, 1-R42-DA042467-01, Co-I, 9/16-2/19 6. NIH, 5U54HD086984-03, Co-I, 11/15-6/20 7. NIH, 1U01HG010219, Co-I, 7/18-6/22 8. Department of Defense: PR171698, Co-Investigator, Sept 2018 - Aug 2019

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. March of Dimes Transdisciplinary Research Center for Preterm Birth at The University of Pennsylvania, 11/14 - 12/19 United Mitochondrial Disease Foundation (UMDF) Leigh Syndrome Consortium informatics planning grant, 9/19 - 12/19

    Stock/Stock Options/Board of Directors Compensation:

    1. MitoCUREia, Inc (stock options) - scientific advisory board co-chair.

    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

  24. Amy C. Goldstein, MD,
    25. Scientific Advisory Boards:

    1. United Mitochondrial Disease Foundation Scientific and Medical Advisory Board MitoAction Advisory Board MitoCon Advisory Board

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Journal of Child Neurology, editorial board, since 2008

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. United Mitochondrial Disease Foundation MitoAction

    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

  25. Mark Tarnopolsky, MD, PhD,
    26. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. 1) Sanofi/Genzyme - 1-3 talks/year on mitochondrial and neuromuscular disease (2012-present).

    Editorial Boards:

    1. Editorial board of Mitochondrion.

    Patents:

    1. 1. US and Canadian patent - The use of IL-15 in metabolic disorders.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. CEO and CSO of Exerkine Corporation - We are working on protein delivery systems and nutritional approaches for neurological genetic disorders, obesity and aging. I receive no remuneration but have shares in the company.

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Genzyme Canada - Pompe study 2012-2014 - no personal remuneration - research costs only.

    Research Support, Government Entities:

    1. CIHR, Principle Investigator 2012-current - Exosomes as mediators of the multi-systemic benefits of exercise. Stock/Stock Options, Medical Equipment & Materials: 1. Exerkine - stockholder.

    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

  26. Andrea Gropman, MD,
    27. Scientific Advisory Boards:

    1. National Urea cycle foundation PRISMS (parents and researchers interested in Smith Magenis syndrome)

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. National Urea cycle foundation, funding to speak at yearly parent/family conference

    Editorial Boards:

    1. Editorial board, Journal of Child Neurology 2016-present

    Patents:

    1. NONE

    Publishing Royalties:

    1. Swaiman's Pediatric Neurlogy, 6th edition, Elsevier, 6th edition, 2018

    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. NICHD/NCATS U54 HD061221, P.I. 2019-2024 NICHD/NCATS U54 HD061221 15S1,P.I. 2018-2019

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. National Urea cycle foundation Propionic acidemia foundation O'Malley Foundations

    Stock/Stock Options/Board of Directors Compensation:

    1. Marriott International, employee stock options, spouse Bioreference Laboratories, employee stock options, spouse

    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

  27. Kathryn Camp, MS, RD,
    28. 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

  28. Danuta Krotoski, PhD,
    29. 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

  29. Kristin Engelstad, MS,
    30. 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

  30. Xiomara Q. Rosales, MD,
    31. 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

  31. Joshua Kriger, MS,
    32. 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

  32. Johnston Grier, MS,
    33. 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. 1) Bristol-Meyers Squibb, Clinical Site Manager, <1 year (since 06-NOV-2017)

    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

  33. Richard Buchsbaum,
    34. 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) NCATS, 5UL1TR001873-03 , Data Systems Consultant, 7/1/2016 – 5/31/2021 (2) NIMH, 2P30MH043520-30, Data Manager, 9/30/2017 – 1/31/2023 (3) FDA, 5R01FD005407-02 , Data Manager, 6/1/2016 – 12/31/2020 (4) NHLBI, 1R34HL137659-01A1, Data Manager, 4/15/2018 – 3/31/20 (5) NCI, 2U01CA164920-06, Data Manager, 9/12/2012 – 4/30/2023 (6) NIEHS, 5P42ES010349-17, Data Manager, 6/1/2000 – 3/31/2020 (7) NIEHS, 2P30ES009089-20, Data Manager, 4/1/2018 – 3/31/2023 (8)NIA, 5R01AG050819-02, Data Manager, 9/1/2016 – 5/31/2021 (9) NHLBI, 1R01HL136753-01, Data Manager, 7/5/2017 – 6/30/2022 (10) NIH/NINDS, 5U54NS078059-08, Data Manager, 9/15/2014 – 08/31/2019

    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

  34. John L.P. Thompson, PhD and
    35. Scientific Advisory Boards:

    1. Translational Sciences of Rare Diseases, 2016-

    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) NIH/NINDS, 1U54 NS078059-06, PI for Statistics and Data Management. 2014-19 North American Mitochondrial Disease Consortium (NAMDC)(2) NIEHS P30 ES009089-15, Director, Integrative Health Sciences Core) 1998-present. Center for Environmental Health in Northern Manhattan (CEHNM) (3) FDA UFDSP00011270, Statistical PI. 2016-2020 Data Coordinating Center for a phase 3 trial in children for dichloroacetate (DCA) in pyruvate dehydrogenase complex deficiency (PDCD)

    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

  35. Michio Hirano, MD
    36. Scientific Advisory Boards:

    1. 1) I have received honoraria for serving on advisory boards of Stealth Biotherapeutics, Sarepeta, and Biogen.

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. 1) The American Society for Human Genetics, a non-profit entity, provided travel funds. 2) The United Mitochondrial Disease Foundation, a non-profit entity, provided lodging funds to attend a meeting.

    Editorial Boards:

    1. I served as a guest editor for Current Opinions in Neurology in 2019.

    Patents:

    1. I am listed as an inventor on a Columbia University patent application for deoxynucleoside therapy for mitochondrial DNA depletion syndrome including TK2 deficiency. The pending patent have been licensed via the Columbia Technology Ventures office to Modis (formerly Meves) Therapeutics (a subsidiary of Zogenix).

    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 have received research support from (1) Entrada Therapeutics (2) Stealth Biotherapeutics, and (3) Modis Therapeutics (a subsidiary of Zogenix).

    Research Support, Government Entities:

    1. National Institutes of Health U54NS078059, PI, 2011-present; R01HD057543 PI, 2010-14; and P01HD032062, Co-PI, 2010-present.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Muscular Dystrophy Association (MDA) USA and Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF).

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License fee payments, Technology or Inventions:

    1. 1) I am listed as an inventor on a Columbia University patent application and hold Rare Pediatric Disease (RPD) and Orphan Drug Designations (ODD) for deoxynucleoside therapy for mitochondrial DNA depletion syndrome including TK2 deficiency. The patent, RDD, and OPD have been licensed via the Columbia Technology Ventures office to Modis (formerly Meves) Therapeutics (a subsidiary of Zogenix). In addition, in 2019, I have received an inventor's share from the Columbia Technology Ventures (CTV) office for technology licensed to Modis.

    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 Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.
  1. Correspondence
    Dr. Hirano mh29{at}columbia.edu
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