TY  - CONF
AU  - Brkušanin, Miloš
AU  - Milić-Rašić, Vedrana
AU  - Branković, Vesna
AU  - Stević, Zorica
AU  - Nikolić, Dimitrije
AU  - Kosać, Ana
AU  - Jovanović, Kristina
AU  - Karanović, Jelena
AU  - Pešović, Jovan
AU  - Brajusković, Goran
AU  - Savić-Pavićević, Dušanka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2195
AB  - Considering the substantial impact of genetic therapies for spinal muscular atrophy (SMA), longitudinal
follow-up of patients undergoing treatment is crucial to effectively monitor treatment response. While
functional rating scales are commonly used as primary outcome measures, they may not fully capture all
the therapeutic benefits. To address this limitation, the phosphorylated neurofilament heavy chain (pNFH)
protein has emerged as a promising biomarker for evaluating treatment response. pNF-H is a neuron-
specific filament that exhibits increased levels in the cerebrospinal fluid (CSF) and plasma in the
presence of neuronal degeneration. Our study includes individuals treated with Nusinersen (CSF and
plasma samples) and Risdiplam (plasma), as well as age- and sex-matched control subjects (CSF and
plasma). By examining the dynamics of pNF-H levels in these groups, we sought to identify significant
differences indicative of treatment response. Before treatment, SMA individuals typically exhibit higher
levels of pNF-H compared to non-SMA individuals. Elevated levels of pNF-H are associated with more
severe clinical manifestations of the disease. During Nusinersen treatment, a notable decline in pNF-H
levels during the first 2 months can be observed. Current findings suggest that genetic therapies have
a notable impact on reducing pNF-H levels over time. By examining the changes in pNF-H levels, our
study offers valuable insights into the underlying biochemical alterations associated with these therapies.
Furthermore, it supports the use of pNF-H as a complementary measure to functional rating scales and
as a potential biomarker for evaluating treatment effectiveness and monitoring disease progression in
SMA.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Neurofilament as a biomarker of response to genetically designed therapies for spinal muscular atrophy
EP  - 33
SP  - 33
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2195
ER  - 

@conference{
author = "Brkušanin, Miloš and Milić-Rašić, Vedrana and Branković, Vesna and Stević, Zorica and Nikolić, Dimitrije and Kosać, Ana and Jovanović, Kristina and Karanović, Jelena and Pešović, Jovan and Brajusković, Goran and Savić-Pavićević, Dušanka",
year = "2023",
abstract = "Considering the substantial impact of genetic therapies for spinal muscular atrophy (SMA), longitudinal
follow-up of patients undergoing treatment is crucial to effectively monitor treatment response. While
functional rating scales are commonly used as primary outcome measures, they may not fully capture all
the therapeutic benefits. To address this limitation, the phosphorylated neurofilament heavy chain (pNFH)
protein has emerged as a promising biomarker for evaluating treatment response. pNF-H is a neuron-
specific filament that exhibits increased levels in the cerebrospinal fluid (CSF) and plasma in the
presence of neuronal degeneration. Our study includes individuals treated with Nusinersen (CSF and
plasma samples) and Risdiplam (plasma), as well as age- and sex-matched control subjects (CSF and
plasma). By examining the dynamics of pNF-H levels in these groups, we sought to identify significant
differences indicative of treatment response. Before treatment, SMA individuals typically exhibit higher
levels of pNF-H compared to non-SMA individuals. Elevated levels of pNF-H are associated with more
severe clinical manifestations of the disease. During Nusinersen treatment, a notable decline in pNF-H
levels during the first 2 months can be observed. Current findings suggest that genetic therapies have
a notable impact on reducing pNF-H levels over time. By examining the changes in pNF-H levels, our
study offers valuable insights into the underlying biochemical alterations associated with these therapies.
Furthermore, it supports the use of pNF-H as a complementary measure to functional rating scales and
as a potential biomarker for evaluating treatment effectiveness and monitoring disease progression in
SMA.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Neurofilament as a biomarker of response to genetically designed therapies for spinal muscular atrophy",
pages = "33-33",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2195"
}

Brkušanin, M., Milić-Rašić, V., Branković, V., Stević, Z., Nikolić, D., Kosać, A., Jovanović, K., Karanović, J., Pešović, J., Brajusković, G.,& Savić-Pavićević, D.. (2023). Neurofilament as a biomarker of response to genetically designed therapies for spinal muscular atrophy. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 33-33.
https://hdl.handle.net/21.15107/rcub_imagine_2195

Brkušanin M, Milić-Rašić V, Branković V, Stević Z, Nikolić D, Kosać A, Jovanović K, Karanović J, Pešović J, Brajusković G, Savić-Pavićević D. Neurofilament as a biomarker of response to genetically designed therapies for spinal muscular atrophy. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:33-33.
https://hdl.handle.net/21.15107/rcub_imagine_2195 .

Brkušanin, Miloš, Milić-Rašić, Vedrana, Branković, Vesna, Stević, Zorica, Nikolić, Dimitrije, Kosać, Ana, Jovanović, Kristina, Karanović, Jelena, Pešović, Jovan, Brajusković, Goran, Savić-Pavićević, Dušanka, "Neurofilament as a biomarker of response to genetically designed therapies for spinal muscular atrophy" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):33-33,
https://hdl.handle.net/21.15107/rcub_imagine_2195 .