Biomarkers; SMN2 protein, human; Survival of Motor Neuron 2 Protein; Humans; Biomarkers/analysis; Consensus Development Conferences as Topic; Gene Dosage; Prognosis; Muscular Atrophy, Spinal/diagnosis; Muscular Atrophy, Spinal/genetics; Survival of Motor Neuron 2 Protein/genetics; Consensus; Infant, Newborn; Muscular Atrophy, Spinal; Netherlands; Reproducibility of Results; Pediatrics, Perinatology and Child Health; Neurology; Neurology (clinical); Genetics (clinical)
Abstract :
[en] The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians. The workshop involved neuromuscular and clinical experts and representatives of patient advocacy groups and industry. SMN2 copy number is currently one of the main determinants for therapeutic decision in SMA patients: participants discussed the issues that laboratories may encounter in this molecular test and the cruciality of the accurate determination, due the implications as prognostic factor in symptomatic patients and in individuals identified through newborn screening programmes. At the end of the workshop, the attendees defined a set of recommendations divided into four topics: SMA molecular prognosis assessment, newborn screening for SMA, SMN2 copies and treatments, and modifiers and biomarkers. Moreover, the group draw up a series of recommendations for the companies manufacturing laboratory kits, that will help to minimize the risk of errors, regardless of the laboratories' expertise.
Disciplines :
Pediatrics
Author, co-author :
Abiusi, Emanuela; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy
Costa-Roger, Mar; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
Bertini, Enrico Silvio; Research Unit of Neuromuscular Disease, Bambino Gesu’ Children's Hospital, IRCCS, Roma, Italy
Tiziano, Francesco Danilo; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy ; Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy
Tizzano, Eduardo F; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
SMN2 Study group
Abiusi, Emanuela; Section of Genomic Medicine, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, Roma, Italy
Baranello, Giovanni; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, 30 Guilford Street, London WC1N 1EH, UK
Bertini, Enrico; Italy, Research Unit of Neuromuscular Disease, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy
Boemer, François ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale
Burghes, Arthur; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA
Codina-Solà, Marta; Neuromuscular Reference Center, Department of Paediatrics, University Hospital Liege & University of Liege, Belgium
Costa-Roger, Mar; Department of Neurology & Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands
Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques ; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Groen, Ewout; Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Gos, Monika; Department of Neuropediatrics and Muscle Disorders, Medical Center University of Freiburg, Faculty of Medicine, Freiburg, Germany
Jędrzejowska, Maria; Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
Kirschner, Janbernd; Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany
Lemmink, Henny H; AFM Téléthon, Évry, France, SMA Europe, European Alliance for Newborn Screening in Spinal Muscular Atrophy
Müller-Felber, Wolfgang; Pediatric Neuromuscular Unit (NEIDF Reference Center at FILNEMUS & Euro-NMD), Child Neurology Department, Raymond Poincaré Hospital (UVSQ), APHP Université Paris Saclay, Garches France
Ouillade, Marie-Christine; Fundacja SMA, Warsaw, Poland, SMA Europe, European Alliance for Newborn Screening in Spinal Muscular Atrophy
Quijano-Roy, Susana; Univ Rouen Normandie, Inserm U1245, Normandie Univ and CHU Rouen, Department of Genetics and Nord/Est/Ile de France Neuromuscular Reference Center, F-76000 Rouen, France
Rucinski, Kacper; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy
Saugier-Veber, Pascale; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany
Tiziano, Francesco Danilo; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy
Tizzano, Eduardo Fidel; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
Wirth, Brunhilde; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany
This workshop was supported by the SMA NBS Alliance.The workshop and early-career programme are made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and its Full Partners: Association Française contre les Myopathies (France), Deutsche Gesellschaft für Muskelkranke (Germany), Muscular Dystrophy Campaign (UK), Muskelsvindfonden (Denmark), Prinses Beatrix Spierfonds (the Netherlands), Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland), Spierziekten Nederland (the Netherlands), Telethon Foundation (Italy). In addition, we would like to thank the Associated Partners: Finnish Neuromuscular Association (Finland), Österreichische Muskelforschung (Austria), SMA Europe, and World Duchenne Organisation, and the members of the ENMC Company Forum: Amicus Therapeutics, Astellas, Biogen, Ionis Pharmaceuticals, Lupin Neuroscience, Novartis, PerkinElmer, Roche, Sanofi, and Sarepta.
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