TY - JOUR
T1 - 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands
AU - Abiusi, Emanuela
AU - Costa-Roger, Mar
AU - Bertini, Enrico Silvio
AU - Tiziano, Francesco Danilo
AU - Tizzano, Eduardo F
AU - participants, all
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
KW - SMN1
KW - SMN2
KW - Spinal muscular atrophy
KW - SMN1
KW - SMN2
KW - Spinal muscular atrophy
UR - https://publicatt.unicatt.it/handle/10807/260661
U2 - 10.1016/j.nmd.2023.12.008
DO - 10.1016/j.nmd.2023.12.008
M3 - Article
SN - 0960-8966
VL - jan
SP - 114
EP - 122
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 34
ER -