268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Federica Montagnese¹, Katy de Valle², Richard J L F Lemmers³, Karlien Mul⁴, Julie Dumonceaux⁵, Nicol Voermans⁶; 268th ENMC workshop participants

Collaborators, Affiliations

Collaborators

268th ENMC workshop participants:
Giorgio Tasca⁷, Maria Gomez-Rodulfo⁸, Nicol Voermans⁹, Sabrina Sacconi¹⁰, Federica Montagnese¹¹, Katy de Valle¹², Richard Lemmers¹³, Julie Dumonceaux¹⁴, Pilar Camano¹⁵, Emiliano Giardina¹⁶, Nienke van der Stoep¹⁷, Sarah Burton-Jones¹⁸, Frederique Magdinier¹⁹, Valerie Race²⁰, Sheila Hawkins²¹, Alexandre Mejat²², Piraye Oflazer²³, Lorenzo Guizzaro²⁴, Jamshid Arjomand²⁵, Yann Pereon²⁶, Giulia Ricci²⁷, Enrico Bugiardini²⁸, Alexandra Belayew²⁹

Affiliations

¹ Department of Neurology, Ludwig-Maximilian University Munich, Friedrich-Baur-Institute, Germany.
² Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.
³ Department Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁴ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
⁵ NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, United Kingdom of Great Britain and Northern Ireland, London WC1N 1EH, United Kingdom.
⁶ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.
⁷ Unita Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
⁸ patient representative, Spain.
⁹ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
¹⁰ Universite Cote d'Azur (UCA), Peripheral Nervous System, Muscle and ALS Department, Pasteur 2 Hospital, Nice; Universite Cote d'Azur, Inserm, CNRS, Institute for Research on Cancer and Aging of Nice (IRCAN), Nice, France.
¹¹ Friedrich-Baur Institute, Neurology Department, Ludwig-Maximilians University Munich, Germany.
¹² The Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, Australia.
¹³ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
¹⁴ National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research center/University College London Great Ormond Street Institute of Child Health, London, UK.
¹⁵ Clinical Laboratory Geneticist, Biodonostia, San Sebastian, Spain.
¹⁶ Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.
¹⁷ Clinical Laboratory Geneticist, Department of Clinical genetics, Leiden University Medical Center, Leiden, The Netherlands.
¹⁸ Clinical Laboratory Geneticist, North Bristol NHS Trust, Bristol, UK.
¹⁹ Aix Marseille Univ, INSERM, Marseille Medical Genetics, MMG, Marseille, France.
²⁰ Clinical Laboratory Geneticist, Human Genetics, UZ Leuven, Leuven, Belgium.
²¹ Patient Representative, FSHD Europe.
²² AFM-Telethon, France.
²³ Dept of Neurology, Koc University Medical Faculty, Koc University Hospital Muscle Center, I˙stanbul, Turkey.
²⁴ European Medicines Agency, Amsterdam, The Netherlands.
²⁵ Chief Science Officer, FSHD Society, USA.
²⁶ Reference center for Neuromuscular Diseases, Filnemus, Euro-NMD, University Hospital, CHU Nantes, Nantes, France.
²⁷ Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
²⁸ Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
²⁹ Professor emerita, Dept Medicine and Pharmacy, University of Mons, Mons, Belgium.

PMID: 37099914
DOI: 10.1016/j.nmd.2023.04.005

268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Federica Montagnese et al. Neuromuscul Disord. 2023 May.

. 2023 May;33(5):447-462.

doi: 10.1016/j.nmd.2023.04.005. Epub 2023 Apr 8.

Authors

Federica Montagnese¹, Katy de Valle², Richard J L F Lemmers³, Karlien Mul⁴, Julie Dumonceaux⁵, Nicol Voermans⁶; 268th ENMC workshop participants

Collaborators

268th ENMC workshop participants:
Giorgio Tasca⁷, Maria Gomez-Rodulfo⁸, Nicol Voermans⁹, Sabrina Sacconi¹⁰, Federica Montagnese¹¹, Katy de Valle¹², Richard Lemmers¹³, Julie Dumonceaux¹⁴, Pilar Camano¹⁵, Emiliano Giardina¹⁶, Nienke van der Stoep¹⁷, Sarah Burton-Jones¹⁸, Frederique Magdinier¹⁹, Valerie Race²⁰, Sheila Hawkins²¹, Alexandre Mejat²², Piraye Oflazer²³, Lorenzo Guizzaro²⁴, Jamshid Arjomand²⁵, Yann Pereon²⁶, Giulia Ricci²⁷, Enrico Bugiardini²⁸, Alexandra Belayew²⁹

Affiliations

¹ Department of Neurology, Ludwig-Maximilian University Munich, Friedrich-Baur-Institute, Germany.
² Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.
³ Department Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁴ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
⁵ NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, United Kingdom of Great Britain and Northern Ireland, London WC1N 1EH, United Kingdom.
⁶ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.
⁷ Unita Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
⁸ patient representative, Spain.
⁹ Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
¹⁰ Universite Cote d'Azur (UCA), Peripheral Nervous System, Muscle and ALS Department, Pasteur 2 Hospital, Nice; Universite Cote d'Azur, Inserm, CNRS, Institute for Research on Cancer and Aging of Nice (IRCAN), Nice, France.
¹¹ Friedrich-Baur Institute, Neurology Department, Ludwig-Maximilians University Munich, Germany.
¹² The Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, Australia.
¹³ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
¹⁴ National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research center/University College London Great Ormond Street Institute of Child Health, London, UK.
¹⁵ Clinical Laboratory Geneticist, Biodonostia, San Sebastian, Spain.
¹⁶ Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.
¹⁷ Clinical Laboratory Geneticist, Department of Clinical genetics, Leiden University Medical Center, Leiden, The Netherlands.
¹⁸ Clinical Laboratory Geneticist, North Bristol NHS Trust, Bristol, UK.
¹⁹ Aix Marseille Univ, INSERM, Marseille Medical Genetics, MMG, Marseille, France.
²⁰ Clinical Laboratory Geneticist, Human Genetics, UZ Leuven, Leuven, Belgium.
²¹ Patient Representative, FSHD Europe.
²² AFM-Telethon, France.
²³ Dept of Neurology, Koc University Medical Faculty, Koc University Hospital Muscle Center, I˙stanbul, Turkey.
²⁴ European Medicines Agency, Amsterdam, The Netherlands.
²⁵ Chief Science Officer, FSHD Society, USA.
²⁶ Reference center for Neuromuscular Diseases, Filnemus, Euro-NMD, University Hospital, CHU Nantes, Nantes, France.
²⁷ Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
²⁸ Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
²⁹ Professor emerita, Dept Medicine and Pharmacy, University of Mons, Mons, Belgium.

PMID: 37099914
DOI: 10.1016/j.nmd.2023.04.005

No abstract available

Keywords: Clinical trials; Dystrophy; ENMC; Facioscapulohumeral.

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Conflict of interest statement

Declaration of Competing Interest Federica Montagnese: has served as a paid consultant for DYNE Therapeutics. Katy de Valle: has received grant funding from FSHD Society USA and Fulcrum Therapeutics Nicol Voermans: is PI of the REACH trial of Fulcrum at the Radboud university medical center, Nijmegen, the Netherlands, and member of the steering committee of the trial. Financial compensation is paid to the hospital. She is the chair of the FSHD European Trial Network. Julie Dumonceaux: none Karlien Mul: has served as a paid consultant for Avidity Biosciences. Richard Lemmers: none

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268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Collaborators

Affiliations

268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Authors

Collaborators

Affiliations

Conflict of interest statement

Publication types

MeSH terms

Substances