One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project
Authors
Brkušanin, MilošKaranović, Jelena
Garai, Nemanja
Tričković, Matija
Nikolić, Dimitrije
Šljivančanin Jakovljević, Tamara
Jovanović, Kristina
Savić-Pavićević, Dušanka
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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.
Keywords:
SMA / newborn screening / Serbia / spinal muscular atrophySource:
8th Congress of the Serbian Neuroscience Society, 2023, 91-91Publisher:
- Belgrade : Serbian Neuroscience Society
Note:
- BOOK OF ABSTRACTS: 8th CONGRESS OF SERBIAN NEUROSCIENCE SOCIETY with international participation 31 May – 2 June 2023. Belgrade, Serbia
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Institution/Community
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 .