TY - JOUR
T1 - Neurofilament light protein as a biomarker for spinal muscular atrophy
T2 - A review and reference ranges
AU - Bayoumy, Sherif
AU - Verberk, Inge M. W.
AU - Vermunt, Lisa
AU - Willemse, Eline
AU - den Dulk, Ben
AU - van der Ploeg, Ans T.
AU - Pajkrt, Dasja
AU - Nitz, Elisa
AU - van den Hout, Johanna M. P.
AU - van der Post, Julie
AU - Wolf, Nicole I.
AU - Beerepoot, Shanice
AU - Groen, Ewout J. N.
AU - Tüngler, Victoria
AU - Teunissen, Charlotte E.
N1 - Publisher Copyright: © 2024 the author(s), published by De Gruyter, Berlin/Boston 2024.
PY - 2024/1/15
Y1 - 2024/1/15
N2 - Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive neuromuscular degeneration resulting from mutations in the survival motor neuron (SMN1) gene. The availability of disease-modifying therapies for SMA therapies highlights the pressing need for easily accessible and cost-effective blood biomarkers to monitor treatment response and for better disease management. Additionally, the wide implementation of newborn genetic screening programs in Western countries enables presymptomatic diagnosis of SMA and immediate treatment administration. However, the absence of monitoring and prognostic blood biomarkers for neurodegeneration in SMA hinders effective disease management. Neurofilament light protein (NfL) is a promising biomarker of neuroaxonal damage in SMA and reflects disease progression in children with SMA undergoing treatment. Recently, the European Medicines Agency issued a letter of support endorsing the potential utilization of NfL as a biomarker of pediatric neurological diseases, including SMA. Within this review, we comprehensively assess the potential applications of NfL as a monitoring biomarker for disease severity and treatment response in pediatric-onset SMA. We provide reference ranges for normal levels of serum based NfL in neurologically healthy children aged 0-18 years. These reference ranges enable accurate interpretation of NfL levels in children and can accelerate the implementation of NfL into clinical practice.
AB - Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive neuromuscular degeneration resulting from mutations in the survival motor neuron (SMN1) gene. The availability of disease-modifying therapies for SMA therapies highlights the pressing need for easily accessible and cost-effective blood biomarkers to monitor treatment response and for better disease management. Additionally, the wide implementation of newborn genetic screening programs in Western countries enables presymptomatic diagnosis of SMA and immediate treatment administration. However, the absence of monitoring and prognostic blood biomarkers for neurodegeneration in SMA hinders effective disease management. Neurofilament light protein (NfL) is a promising biomarker of neuroaxonal damage in SMA and reflects disease progression in children with SMA undergoing treatment. Recently, the European Medicines Agency issued a letter of support endorsing the potential utilization of NfL as a biomarker of pediatric neurological diseases, including SMA. Within this review, we comprehensively assess the potential applications of NfL as a monitoring biomarker for disease severity and treatment response in pediatric-onset SMA. We provide reference ranges for normal levels of serum based NfL in neurologically healthy children aged 0-18 years. These reference ranges enable accurate interpretation of NfL levels in children and can accelerate the implementation of NfL into clinical practice.
KW - blood biomarker
KW - neurofilament light protein
KW - pediatric neurology
KW - reference range
KW - spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=85182580759&partnerID=8YFLogxK
U2 - https://doi.org/10.1515/cclm-2023-1311
DO - https://doi.org/10.1515/cclm-2023-1311
M3 - Review article
C2 - 38215341
SN - 1434-6621
JO - Clinical chemistry and laboratory medicine
JF - Clinical chemistry and laboratory medicine
ER -