Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses
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Article Information
- Received May 26, 2022
- Accepted in final form October 21, 2022
- First Published December 1, 2022.
Article Versions
- Previous version (December 1, 2022 - 12:45).
- You are viewing the most recent version of this article.
Author Disclosures
- Kyriakos Martakis, MD,
- Jens Claassen, MD,
- Jordi Gascon-Bayari, MD,
- Nicolina Goldschagg, MD,
- Andreas Hahn, MD,
- Anhar Hassan, MBBCh,
- Anita Hennig, MD,
- Simon Jones, MD,
- Richard Kay, PhD,
- Heather Lau, MD,
- Susan Perlman, MD,
- Reena Sharma, MD,
- Susanne Schneider, MD and
- Tatiana Bremova-Ertl, MD, PhD
- Kyriakos Martakis, MD,
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- Jens Claassen, MD,
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The Author recieved consulting fees <br><br>for blinded rater service from IntraBio
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- Jordi Gascon-Bayari, MD,
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- Nicolina Goldschagg, MD,
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(1) IntraBio Inc., principal place of business at University <br>of Oxford Begbroke Science Park, Begbroke Hill, Woodstock <br>Road, Begbroke OX5 1PF: central reviewer team
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- Andreas Hahn, MD,
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- Anhar Hassan, MBBCh,
1) DSMB for Clinical Trial Readiness for SCA1 and SCA3<br><br>(U01) (no compensation)
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(1) Parkinsonism and Related Disorders, Editorial Board <br><br>Member, 2016-2021. No personal compensation.
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(1) Intrabio -research support to fund patient evaluation during the study
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- Anita Hennig, MD,
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- Simon Jones, MD,
1)<br>Sanofi<br>Takeda<br>Biomarin<br>Alexion<br>Mina<br>Orchard<br>Avrobio<br>Orphazyme
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travel/speaking<br>Sanofi<br>Takeda<br>Biomarin<br>Alexion<br>Mina<br>Orchard<br>Avrobio<br>Orphazyme
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Sanofi<br>Takeda<br>Biomarin<br>Alexion<br>Mina<br>Orchard<br>Avrobio<br>Orphazyme
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Sanofi<br>Biomarin<br>Orchard<br>Avrobio
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- Richard Kay, PhD,
Minoryx (DSMB)
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Minoryx
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- Heather Lau, MD,
1. National Tay Sachs and <br>Allied Diseases Scientific<br>Advisory Board<br>2. Adult Polyglucosan Body <br>Disorder Foundation <br>Scientific<br>Advisory Board<br>3. Takeda Advisory Board<br>4. Sanofi Genzyme Advisory <br>Board
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National Tay Sachs and <br>Allied Diseases Foundation <br>travel<br>MPS Society<br>Fabry Information and <br>Support Group<br>Muscular dystrophy society <br>Sanofi Genzyme <br>honoraria<br>Ultragenyx travel
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Ultragenyx Executive <br>Director, Global Clinical <br>Development, 1.5yrs
1. Sanofi Genzyme<br>2. Pfize<br>4. Ultragenyx<br>5. Takeda<br>6. Amicus<br>8. Biomarin<br>9. Taysha
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1. Sanofi Genzyme<br>2. Takeda<br>3. Amicus<br>4. Mallinckrodt<br>5. Biomarin<br>6. Ultragenyx<br>7. Pfizer<br>8. Protalix<br>9. Sangamo<br>10. Prevail<br>11. ASPA therapeutics
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National Tay Sachs and <br>Allied Diseases Foundation <br>Grant
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Ultragenyx
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- Susan Perlman, MD,
(1) National Ataxia Foundation Medical Research Advisory <br>Board.<br>Employment, Commercial Entity: <br>(1) UCLA Medical Center, fulltime staff physician, 40 years
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(1) Santhera Phamaceuticals<br>(2) Edison Pharmaceuticals<br>(3) Viropharma Pharmaceuticals<br>(4) Horizon Pharmaceuticals<br>(5) Reata Pharmaceuticals<br>(6) Biohaven Pharmaceuticals<br>(7) Teva Pharmaceuticals<br>(8) Takeda Pharmaceuticals<br>(9) Cadent Pharmaceuticals
(1) ARRAS funding via the RDN-CRC, subcontracted from <br>University of Florida, PI at UCLA for the study 2009-2011
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(1) Friedreich Ataxia Research Alliance<br>(2) National Ataxia Foundation
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- Reena Sharma, MD,
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- Susanne Schneider, MD and
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editorial board member of Journal of Neurology and <br>Parkinsonism Related Disorders and Clinical Parkinsonism <br>Related Disorders (all without financial compensation)
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- Tatiana Bremova-Ertl, MD, PhD
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(1) Actelion Ltd, speaker honoraria, funding for travel to <br>conferences.<br>(2) Sanofi-Genzyme, funding for travel to speak at <br>conferences.
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(1) University Hospital Inselspital, Inselgruppe hospital
(1) Actelion, consultancy <br>(2) Sanofi Genzyme, consultancy<br>(3) Intrabio, payed services as blinded reviewer
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(1) German Federal Ministry of Education and Research,<br>grant code 01 EO 0901, Site Investigator, 2011-2014
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(1) Baasch-Medicus Stiftung, Grant No. baas31, 07/2022-06/2024<br>(2) InnoSuisse, Grant No. 55424.1 IP-LS, 10/22-04/23<br>(3) University of Bern, UniBE Initiator Grant 2020
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- From the Department of Pediatric Neurology (K.M., Andreas Hahn), University Children's Hospital (UKGM) and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany; Department of Pediatrics (K.M.), Medical Faculty and University Hospital, University of Cologne, Cologne, Germa; Department of Neurology (J.C.), Essen University Hospital, University of Duisburg-Essen, Germany; Department of Neurocritical Care, Neurological and Neurosurgical First Stage Rehabilitation and Weaning, MediClin Klinik Reichshof, Germany; Department of Neurologic Diseases and Neurogenetics (J.G.-B.), Institut D'Investigació Biomèdica de Bellvitge, Barcelona, Spain; Department of Neurology (N.G., Anita Hennig, S.S.), Ludwig Maximilian University of Munich, Germany; Department of Neurology (Anhar Hassan), Mayo Clinic, Rochester, MN, United States; Willink Unit (S.J.), Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, United Kingdom; RK Statistics, Brook House, Mesne Lane, Bakewell DE45 1AL, United Kingdom 9. Division of Neurogenetics, New York University Langone, NY, United States; Department of Neurology (H.L.), New York University Langone School of Medicine, NY, United States; Department of Neurology (S.P.), University of California Los Angeles, CA, United States; Department of Adult Metabolic Medicine (R.S.), Salford Royal Foundation NHS Trust, United Kingdom; and Department of Neurology (T.B.-E.), University Hospital Bern (Inselspital), Switzerland.
- Correspondence
Dr. Martakis kyriakos.martakis{at}paediat.med.uni-giessen.de
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