TY  - CONF
AU  - Brkušanin, Miloš
AU  - Garai, Nemanja
AU  - Karanović, Jelena
AU  - Tričković, Matija
AU  - Nikolić, Dimitrije
AU  - Šljivančanin Jakovljević, Tamara
AU  - Dimitrijević, Aleksandra
AU  - Busarać, Ana
AU  - Jovanović, Kristina
AU  - Savić-Pavicević, Dušanka
PY  - 2024
UR  - https://ghent2024.sma-europe.eu/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2338
AB  - Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality.  Pioneering treatments yield utmost advantages only within the presymptomatic phase,  underlining the medical and ethical significance of newborn screening. 
In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn  screening for SMA, working closely alongside the University Children’s Hospital Tirsova  and Association SMA Serbia. The aim was to lay the foundation for the implementation  of statewide newborn screening for SMA in Serbia by conducting screening for ~8000  infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a  year. In the subsequent year, we expanded the initiative to include another maternity  hospital located outside Belgrade, introducing sample shipment via postal services and  extending screening accessibility to a greater number of infants. 
In the initial year, 6 950 newborns underwent testing, revealing SMA in two unrelated  infants. Subsequently, an older sibling of the first newborn, although asymptomatic at  the time, was also tested at the age of 16 months, and SMA diagnosis was confirmed  in this child as well. All three children received therapeutic interventions in <1 month  from birth. To date, they have exhibited no signs of SMA, and there have been no false 
negative outcomes among the newborns who tested negative during the screening. In
the second year, an additional 5 000 newborns underwent testing. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across  various tiers of healthcare, established screening and diagnostic algorithms and  follow-up protocols. Our extensive efforts were primarily aimed at elevating awareness  among all stakeholders about the critical importance of early disease detection.  In this transformative journey, we transitioned from being isolated individuals and  visionaries who championed a singular idea to an entire community and nation that now  acknowledges the paramount significance of newborn screening. As a result, a total of  11 950 infants underwent testing during the 17-month pilot project, culminating in the  rapid incorporation of newborn screening for SMA into the national screening program,  effective as of September 14th 2023. 
Timely detection and treatment can transform SMA into a manageable condition, and  there is substantial evidence supporting its inclusion in state-wide screening programs.
PB  - SMA Europe
C3  - 4th International Congress on Spinal Muscular Atrophy
T1  - Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a  Mandatory Statewide Newborn Screening
EP  - 157
SP  - 157
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2338
ER  - 

@conference{
author = "Brkušanin, Miloš and Garai, Nemanja and Karanović, Jelena and Tričković, Matija and Nikolić, Dimitrije and Šljivančanin Jakovljević, Tamara and Dimitrijević, Aleksandra and Busarać, Ana and Jovanović, Kristina and Savić-Pavicević, Dušanka",
year = "2024",
abstract = "Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality.  Pioneering treatments yield utmost advantages only within the presymptomatic phase,  underlining the medical and ethical significance of newborn screening. 
In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn  screening for SMA, working closely alongside the University Children’s Hospital Tirsova  and Association SMA Serbia. The aim was to lay the foundation for the implementation  of statewide newborn screening for SMA in Serbia by conducting screening for ~8000  infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a  year. In the subsequent year, we expanded the initiative to include another maternity  hospital located outside Belgrade, introducing sample shipment via postal services and  extending screening accessibility to a greater number of infants. 
In the initial year, 6 950 newborns underwent testing, revealing SMA in two unrelated  infants. Subsequently, an older sibling of the first newborn, although asymptomatic at  the time, was also tested at the age of 16 months, and SMA diagnosis was confirmed  in this child as well. All three children received therapeutic interventions in <1 month  from birth. To date, they have exhibited no signs of SMA, and there have been no false 
negative outcomes among the newborns who tested negative during the screening. In
the second year, an additional 5 000 newborns underwent testing. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across  various tiers of healthcare, established screening and diagnostic algorithms and  follow-up protocols. Our extensive efforts were primarily aimed at elevating awareness  among all stakeholders about the critical importance of early disease detection.  In this transformative journey, we transitioned from being isolated individuals and  visionaries who championed a singular idea to an entire community and nation that now  acknowledges the paramount significance of newborn screening. As a result, a total of  11 950 infants underwent testing during the 17-month pilot project, culminating in the  rapid incorporation of newborn screening for SMA into the national screening program,  effective as of September 14th 2023. 
Timely detection and treatment can transform SMA into a manageable condition, and  there is substantial evidence supporting its inclusion in state-wide screening programs.",
publisher = "SMA Europe",
journal = "4th International Congress on Spinal Muscular Atrophy",
title = "Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a  Mandatory Statewide Newborn Screening",
pages = "157-157",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2338"
}

Brkušanin, M., Garai, N., Karanović, J., Tričković, M., Nikolić, D., Šljivančanin Jakovljević, T., Dimitrijević, A., Busarać, A., Jovanović, K.,& Savić-Pavicević, D.. (2024). Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a  Mandatory Statewide Newborn Screening. in 4th International Congress on Spinal Muscular Atrophy
SMA Europe., 157-157.
https://hdl.handle.net/21.15107/rcub_imagine_2338

Brkušanin M, Garai N, Karanović J, Tričković M, Nikolić D, Šljivančanin Jakovljević T, Dimitrijević A, Busarać A, Jovanović K, Savić-Pavicević D. Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a  Mandatory Statewide Newborn Screening. in 4th International Congress on Spinal Muscular Atrophy. 2024;:157-157.
https://hdl.handle.net/21.15107/rcub_imagine_2338 .

Brkušanin, Miloš, Garai, Nemanja, Karanović, Jelena, Tričković, Matija, Nikolić, Dimitrije, Šljivančanin Jakovljević, Tamara, Dimitrijević, Aleksandra, Busarać, Ana, Jovanović, Kristina, Savić-Pavicević, Dušanka, "Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a  Mandatory Statewide Newborn Screening" in 4th International Congress on Spinal Muscular Atrophy (2024):157-157,
https://hdl.handle.net/21.15107/rcub_imagine_2338 .

TY  - JOUR
AU  - Brkušanin, Miloš
AU  - Kosać, Ana
AU  - Branković-Srećković, Vesna
AU  - Jovanović, Kristina
AU  - Perić, Stojan
AU  - Karanović, Jelena
AU  - Matijašević Joković, Suzana
AU  - Garai, Nemanja
AU  - Pešović, Jovan
AU  - Nikolić, Dimitrije
AU  - Stević, Zorica
AU  - Brajušković, Goran
AU  - Milić-Rašić, Vedrana
AU  - Savić-Pavićević, Dušanka
PY  - 2024
UR  - https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1394001/full
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2388
AB  - IntroductionBiomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant promise.MethodsWe conducted a longitudinal prospective study to evaluate pNF-H levels in the cerebrospinal fluid (CSF) and plasma of 29 individuals with childhood-onset SMA treated with Nuinersen (SMA type 1: n = 6, 2: n = 17, 3: n = 6). pNF-H levels before and during treatment were compared with the levels of controls (n = 22), patients with Duchenne muscular dystrophy (n = 17), myotonic dystrophy type 1 (n = 11), untreated SMA individuals with chronic type 3 disease (n = 8), and children with presymptomatic SMA (n = 3).ResultsSMA type 1 showed the highest mean CSF pNF-H levels before treatment initiation. All Nusinersen-treated individuals (types 1, 2, and 3) showed significantly elevated mean baseline CSF pNF-H compared to controls, which inversely correlated with age at disease onset, age at first dose, disease duration and the initial CHOP INTEND result (SMA type 1 and 2). During 22 months of treatment, CSF pNF-H levels declined during loading doses, stabilizing at reduced levels from the initial maintenance dose in all individuals. Baseline plasma pNF-H levels in type 1 and 2 SMA were significantly increased compared to other cohorts and decreased notably in type 1 after 2 months of treatment and type 2 after 14 months. Conversely, SMA type 3, characterized by lower baseline pNF-H levels, did not show significant fluctuations in plasma pNF-H levels after 14 months of treatment.ConclusionOur findings suggest that CSF pNF-H levels in untreated SMA individuals are significantly higher than in controls and that monitoring of CSF pNF-H levels may serve as an indicator of rapid short-term treatment response in childhood-onset SMA individuals, irrespective of the subtype of the disease, while also suggesting its potential for assessing long-term suppression of neurodegeneration. Plasma pNF-H may serve as an appropriate outcome measure for disease progression and/or response to treatment in types 1 and 2 but not in type 3. Presymptomatic infants with SMA may show elevated pNF-H levels, confirming early neuronal degeneration.
PB  - Frontiers
T2  - Frontiers in Neurology
T1  - Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia
VL  - 15
DO  - 10.3389/fneur.2024.1394001
ER  - 

@article{
author = "Brkušanin, Miloš and Kosać, Ana and Branković-Srećković, Vesna and Jovanović, Kristina and Perić, Stojan and Karanović, Jelena and Matijašević Joković, Suzana and Garai, Nemanja and Pešović, Jovan and Nikolić, Dimitrije and Stević, Zorica and Brajušković, Goran and Milić-Rašić, Vedrana and Savić-Pavićević, Dušanka",
year = "2024",
abstract = "IntroductionBiomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant promise.MethodsWe conducted a longitudinal prospective study to evaluate pNF-H levels in the cerebrospinal fluid (CSF) and plasma of 29 individuals with childhood-onset SMA treated with Nuinersen (SMA type 1: n = 6, 2: n = 17, 3: n = 6). pNF-H levels before and during treatment were compared with the levels of controls (n = 22), patients with Duchenne muscular dystrophy (n = 17), myotonic dystrophy type 1 (n = 11), untreated SMA individuals with chronic type 3 disease (n = 8), and children with presymptomatic SMA (n = 3).ResultsSMA type 1 showed the highest mean CSF pNF-H levels before treatment initiation. All Nusinersen-treated individuals (types 1, 2, and 3) showed significantly elevated mean baseline CSF pNF-H compared to controls, which inversely correlated with age at disease onset, age at first dose, disease duration and the initial CHOP INTEND result (SMA type 1 and 2). During 22 months of treatment, CSF pNF-H levels declined during loading doses, stabilizing at reduced levels from the initial maintenance dose in all individuals. Baseline plasma pNF-H levels in type 1 and 2 SMA were significantly increased compared to other cohorts and decreased notably in type 1 after 2 months of treatment and type 2 after 14 months. Conversely, SMA type 3, characterized by lower baseline pNF-H levels, did not show significant fluctuations in plasma pNF-H levels after 14 months of treatment.ConclusionOur findings suggest that CSF pNF-H levels in untreated SMA individuals are significantly higher than in controls and that monitoring of CSF pNF-H levels may serve as an indicator of rapid short-term treatment response in childhood-onset SMA individuals, irrespective of the subtype of the disease, while also suggesting its potential for assessing long-term suppression of neurodegeneration. Plasma pNF-H may serve as an appropriate outcome measure for disease progression and/or response to treatment in types 1 and 2 but not in type 3. Presymptomatic infants with SMA may show elevated pNF-H levels, confirming early neuronal degeneration.",
publisher = "Frontiers",
journal = "Frontiers in Neurology",
title = "Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia",
volume = "15",
doi = "10.3389/fneur.2024.1394001"
}

Brkušanin, M., Kosać, A., Branković-Srećković, V., Jovanović, K., Perić, S., Karanović, J., Matijašević Joković, S., Garai, N., Pešović, J., Nikolić, D., Stević, Z., Brajušković, G., Milić-Rašić, V.,& Savić-Pavićević, D.. (2024). Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia. in Frontiers in Neurology
Frontiers., 15.
https://doi.org/10.3389/fneur.2024.1394001

Brkušanin M, Kosać A, Branković-Srećković V, Jovanović K, Perić S, Karanović J, Matijašević Joković S, Garai N, Pešović J, Nikolić D, Stević Z, Brajušković G, Milić-Rašić V, Savić-Pavićević D. Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia. in Frontiers in Neurology. 2024;15.
doi:10.3389/fneur.2024.1394001 .

Brkušanin, Miloš, Kosać, Ana, Branković-Srećković, Vesna, Jovanović, Kristina, Perić, Stojan, Karanović, Jelena, Matijašević Joković, Suzana, Garai, Nemanja, Pešović, Jovan, Nikolić, Dimitrije, Stević, Zorica, Brajušković, Goran, Milić-Rašić, Vedrana, Savić-Pavićević, Dušanka, "Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia" in Frontiers in Neurology, 15 (2024),
https://doi.org/10.3389/fneur.2024.1394001 . .

TY  - CONF
AU  - Brkušanin, Miloš
AU  - Karanović, Jelena
AU  - Garai, Nemanja
AU  - Tričković, Matija
AU  - Nikolić, Dimitrije
AU  - Šljivančanin Jakovljević, Tamara
AU  - Jovanović, Kristina
AU  - Savić-Pavićević, Dušanka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2216
AB  - Spinal muscular atrophy (SMA) is the most common genetic cause of death in
childhood. Innovative therapies show the greatest benefit only when administered in
the presymptomatic period, making newborn screening an ethical and medical priority
in many countries. In 2022 Centre for Human Molecular Genetics initiated a
feasibility study of the newborn screening for SMA in close collaboration with the
University Children's Hospital Tirsova, Association SMA Serbia and with financial
support from Novartis Gene Therapies, Roche and Biogen/Medis Pharma aiming to
screen up to 8000 babies from the Obstetrics and Gynaecology Clinic Narodni Front
during one year. A total of 6950 newborns were tested and SMA was confirmed in
two unrelated newborns from families with no history of SMA. A 16-month old
sibling of the first baby was also tested, even though he was completely
asymptomatic, and SMA was also confirmed. Average time between birth and the first
screen-positive result was 5 days, and 8 days between birth and final confirmation of
diagnosis. All three children received modifying therapies in less than 10 days from
final diagnosis. So far, no false-negatives have been reported among the newborns
who tested negative in the screening. As pioneers and leaders in this field, we created
synchronised work at different levels of healthcare system, established screening and
diagnostic algorithms and follow-up protocols. We are currently involved in scaling
up screening to include an additional maternity hospital and preparing the ground for
the implementation of the newborn screening for SMA as the official national
screening program.
PB  - Belgrade : Serbian Neuroscience Society
C3  - 8th Congress of the Serbian Neuroscience Society
T1  - One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project
EP  - 91
SP  - 91
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2216
ER  - 

@conference{
author = "Brkušanin, Miloš and Karanović, Jelena and Garai, Nemanja and Tričković, Matija and Nikolić, Dimitrije and Šljivančanin Jakovljević, Tamara and Jovanović, Kristina and Savić-Pavićević, Dušanka",
year = "2023",
abstract = "Spinal muscular atrophy (SMA) is the most common genetic cause of death in
childhood. Innovative therapies show the greatest benefit only when administered in
the presymptomatic period, making newborn screening an ethical and medical priority
in many countries. In 2022 Centre for Human Molecular Genetics initiated a
feasibility study of the newborn screening for SMA in close collaboration with the
University Children's Hospital Tirsova, Association SMA Serbia and with financial
support from Novartis Gene Therapies, Roche and Biogen/Medis Pharma aiming to
screen up to 8000 babies from the Obstetrics and Gynaecology Clinic Narodni Front
during one year. A total of 6950 newborns were tested and SMA was confirmed in
two unrelated newborns from families with no history of SMA. A 16-month old
sibling of the first baby was also tested, even though he was completely
asymptomatic, and SMA was also confirmed. Average time between birth and the first
screen-positive result was 5 days, and 8 days between birth and final confirmation of
diagnosis. All three children received modifying therapies in less than 10 days from
final diagnosis. So far, no false-negatives have been reported among the newborns
who tested negative in the screening. As pioneers and leaders in this field, we created
synchronised work at different levels of healthcare system, established screening and
diagnostic algorithms and follow-up protocols. We are currently involved in scaling
up screening to include an additional maternity hospital and preparing the ground for
the implementation of the newborn screening for SMA as the official national
screening program.",
publisher = "Belgrade : Serbian Neuroscience Society",
journal = "8th Congress of the Serbian Neuroscience Society",
title = "One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project",
pages = "91-91",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2216"
}

Brkušanin, M., Karanović, J., Garai, N., Tričković, M., Nikolić, D., Šljivančanin Jakovljević, T., Jovanović, K.,& Savić-Pavićević, D.. (2023). One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project. in 8th Congress of the Serbian Neuroscience Society
Belgrade : Serbian Neuroscience Society., 91-91.
https://hdl.handle.net/21.15107/rcub_imagine_2216

Brkušanin M, Karanović J, Garai N, Tričković M, Nikolić D, Šljivančanin Jakovljević T, Jovanović K, Savić-Pavićević D. One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project. in 8th Congress of the Serbian Neuroscience Society. 2023;:91-91.
https://hdl.handle.net/21.15107/rcub_imagine_2216 .

Brkušanin, Miloš, Karanović, Jelena, Garai, Nemanja, Tričković, Matija, Nikolić, Dimitrije, Šljivančanin Jakovljević, Tamara, Jovanović, Kristina, Savić-Pavićević, Dušanka, "One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project" in 8th Congress of the Serbian Neuroscience Society (2023):91-91,
https://hdl.handle.net/21.15107/rcub_imagine_2216 .

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 .

TY  - CONF
AU  - Brkusanin, Miloš
AU  - Garai, Nemanja
AU  - Karanović, Jelena
AU  - Tricković, Matija
AU  - Nikolić, Dimitrije
AU  - Sljivančanin Jakovljević, Tamara
AU  - Dimitrijević, Aleksandra
AU  - Jovanović, Kristina
AU  - Savić-Pavićević, Dušanka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2200
AB  - Background: Spinal muscular atrophy
(SMA) is the prevalent genetic cause of childhood
mortality. Pioneering treatments yield utmost advantages
only within the presymptomatic phase,
underlining the significance of newborn screening.
Materials and methods: In 2022, the Centre
for Human Molecular Genetics initiated a pilot
study of the newborn screening for SMA, working
closely alongside the University Children’s Hospital
Tirsova and Association SMA Serbia. The aim
was to lay the foundation for the implementation
of statewide newborn screening for SMA in Serbia
by conducting screening for ~8000 infants from the
Obstetrics and Gynaecology Clinic Narodni Front
over the course of a year.
Results: In the initial year, 6950 newborns
underwent testing, revealing SMA in two unrelated
infants and in an asymptomatic 16-month old sibling
of the first newborn. All three children received
therapeutic interventions in <1 month from birth.
To date, they have exhibited no signs of SMA,
and there have been no false-negative outcomes among the newborns who tested negative during
the screening.
As frontrunners in this field in Serbia, we
orchestrated harmonized efforts across various tiers
of healthcare, established screening and diagnostic
algorithms and follow-up protocols. In the second
year, we included a maternity hospital beyond
Belgrade, introducing sample shipping via mail
and extending screening accessibility to a greater
number of infants. This resulted in 9800 infants
undergoing testing within 16 months. Currently, we
are actively preparing for the official incorporation
of newborn screening for SMA into the national
screening program.
Conclusions: Timely detection and treatment
can transform SMA into a manageable condition.
PB  - International Journal of Medical Genetic
C3  - International Journal of Medical Genetics
T1  - Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period
EP  - 55
IS  - Supplement
SP  - 55
VL  - 26
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2200
ER  - 

@conference{
author = "Brkusanin, Miloš and Garai, Nemanja and Karanović, Jelena and Tricković, Matija and Nikolić, Dimitrije and Sljivančanin Jakovljević, Tamara and Dimitrijević, Aleksandra and Jovanović, Kristina and Savić-Pavićević, Dušanka",
year = "2023",
abstract = "Background: Spinal muscular atrophy
(SMA) is the prevalent genetic cause of childhood
mortality. Pioneering treatments yield utmost advantages
only within the presymptomatic phase,
underlining the significance of newborn screening.
Materials and methods: In 2022, the Centre
for Human Molecular Genetics initiated a pilot
study of the newborn screening for SMA, working
closely alongside the University Children’s Hospital
Tirsova and Association SMA Serbia. The aim
was to lay the foundation for the implementation
of statewide newborn screening for SMA in Serbia
by conducting screening for ~8000 infants from the
Obstetrics and Gynaecology Clinic Narodni Front
over the course of a year.
Results: In the initial year, 6950 newborns
underwent testing, revealing SMA in two unrelated
infants and in an asymptomatic 16-month old sibling
of the first newborn. All three children received
therapeutic interventions in <1 month from birth.
To date, they have exhibited no signs of SMA,
and there have been no false-negative outcomes among the newborns who tested negative during
the screening.
As frontrunners in this field in Serbia, we
orchestrated harmonized efforts across various tiers
of healthcare, established screening and diagnostic
algorithms and follow-up protocols. In the second
year, we included a maternity hospital beyond
Belgrade, introducing sample shipping via mail
and extending screening accessibility to a greater
number of infants. This resulted in 9800 infants
undergoing testing within 16 months. Currently, we
are actively preparing for the official incorporation
of newborn screening for SMA into the national
screening program.
Conclusions: Timely detection and treatment
can transform SMA into a manageable condition.",
publisher = "International Journal of Medical Genetic",
journal = "International Journal of Medical Genetics",
title = "Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period",
pages = "55-55",
number = "Supplement",
volume = "26",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2200"
}

Brkusanin, M., Garai, N., Karanović, J., Tricković, M., Nikolić, D., Sljivančanin Jakovljević, T., Dimitrijević, A., Jovanović, K.,& Savić-Pavićević, D.. (2023). Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period. in International Journal of Medical Genetics
International Journal of Medical Genetic., 26(Supplement), 55-55.
https://hdl.handle.net/21.15107/rcub_imagine_2200

Brkusanin M, Garai N, Karanović J, Tricković M, Nikolić D, Sljivančanin Jakovljević T, Dimitrijević A, Jovanović K, Savić-Pavićević D. Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period. in International Journal of Medical Genetics. 2023;26(Supplement):55-55.
https://hdl.handle.net/21.15107/rcub_imagine_2200 .

Brkusanin, Miloš, Garai, Nemanja, Karanović, Jelena, Tricković, Matija, Nikolić, Dimitrije, Sljivančanin Jakovljević, Tamara, Dimitrijević, Aleksandra, Jovanović, Kristina, Savić-Pavićević, Dušanka, "Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period" in International Journal of Medical Genetics, 26, no. Supplement (2023):55-55,
https://hdl.handle.net/21.15107/rcub_imagine_2200 .