Newborn screening and gene therapy in SMA: Challenges related to vaccinations
Spinal muscular atrophy (SMA) affects one in 7,500–10,000 newborns. Before the era of disease-modifying therapies, it used to be the major genetic cause of mortality in infants. Currently, there are three therapies approved for SMA, including two molecules modifying the splicing of the SMN2 gene and...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.890860/full |
| _version_ | 1811216044673466368 |
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| author | Katarzyna Kotulska Sergiusz Jozwiak Maria Jedrzejowska Monika Gos Magdalena Ogrodnik Jacek Wysocki Hanna Czajka Ernest Kuchar |
| author_facet | Katarzyna Kotulska Sergiusz Jozwiak Maria Jedrzejowska Monika Gos Magdalena Ogrodnik Jacek Wysocki Hanna Czajka Ernest Kuchar |
| author_sort | Katarzyna Kotulska |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA) affects one in 7,500–10,000 newborns. Before the era of disease-modifying therapies, it used to be the major genetic cause of mortality in infants. Currently, there are three therapies approved for SMA, including two molecules modifying the splicing of the SMN2 gene and one gene therapy providing a healthy copy of the SMN gene with a viral vector. The best effects of any of these therapies are achieved when the treatment is administered in the presymptomatic stage of the disease, therefore newborn screening programs are being introduced in many countries. Patients identified in newborn screening might be eligible for gene therapy. However, gene therapy and the associated administration of steroids in newborns might interfere with the vaccination schedule, which includes live immunization against tuberculosis in some countries. The timing of gene therapy in patients who received live vaccinations has not yet been addressed neither in the clinical trials nor in the existing international guidelines. The Polish Vaccinology Association has developed the first recommendations for gene therapy administration in newborns who received live vaccination against tuberculosis. Their statement was implemented in the current guidelines for Polish SMA patients identified in the newborn screening program and might be helpful for medical professionals in other countries where live vaccine against tuberculosis is still in routine use in newborns. |
| first_indexed | 2024-04-12T06:33:01Z |
| format | Article |
| id | doaj.art-d0bb356a06ee4daca10b9cd8146ba4a9 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-12T06:33:01Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-d0bb356a06ee4daca10b9cd8146ba4a92022-12-22T03:43:58ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-11-011310.3389/fneur.2022.890860890860Newborn screening and gene therapy in SMA: Challenges related to vaccinationsKatarzyna Kotulska0Sergiusz Jozwiak1Maria Jedrzejowska2Monika Gos3Magdalena Ogrodnik4Jacek Wysocki5Hanna Czajka6Ernest Kuchar7Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, PolandResearch Department, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Neurology, Medical University of Warsaw, Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, PolandDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Preventive Medicine, Poznań University of Medical Sciences, Poznań, PolandPediatric Department, Rzeszów University, Rzeszów, PolandDepartment of Pediatrics with Clinical Assessment Unit, Medical University of Warsaw, Warsaw, PolandSpinal muscular atrophy (SMA) affects one in 7,500–10,000 newborns. Before the era of disease-modifying therapies, it used to be the major genetic cause of mortality in infants. Currently, there are three therapies approved for SMA, including two molecules modifying the splicing of the SMN2 gene and one gene therapy providing a healthy copy of the SMN gene with a viral vector. The best effects of any of these therapies are achieved when the treatment is administered in the presymptomatic stage of the disease, therefore newborn screening programs are being introduced in many countries. Patients identified in newborn screening might be eligible for gene therapy. However, gene therapy and the associated administration of steroids in newborns might interfere with the vaccination schedule, which includes live immunization against tuberculosis in some countries. The timing of gene therapy in patients who received live vaccinations has not yet been addressed neither in the clinical trials nor in the existing international guidelines. The Polish Vaccinology Association has developed the first recommendations for gene therapy administration in newborns who received live vaccination against tuberculosis. Their statement was implemented in the current guidelines for Polish SMA patients identified in the newborn screening program and might be helpful for medical professionals in other countries where live vaccine against tuberculosis is still in routine use in newborns.https://www.frontiersin.org/articles/10.3389/fneur.2022.890860/fullspinal muscular atrophynewborn screeningvaccinationsgene therapyonasemnogene abeparvovec |
| spellingShingle | Katarzyna Kotulska Sergiusz Jozwiak Maria Jedrzejowska Monika Gos Magdalena Ogrodnik Jacek Wysocki Hanna Czajka Ernest Kuchar Newborn screening and gene therapy in SMA: Challenges related to vaccinations Frontiers in Neurology spinal muscular atrophy newborn screening vaccinations gene therapy onasemnogene abeparvovec |
| title | Newborn screening and gene therapy in SMA: Challenges related to vaccinations |
| title_full | Newborn screening and gene therapy in SMA: Challenges related to vaccinations |
| title_fullStr | Newborn screening and gene therapy in SMA: Challenges related to vaccinations |
| title_full_unstemmed | Newborn screening and gene therapy in SMA: Challenges related to vaccinations |
| title_short | Newborn screening and gene therapy in SMA: Challenges related to vaccinations |
| title_sort | newborn screening and gene therapy in sma challenges related to vaccinations |
| topic | spinal muscular atrophy newborn screening vaccinations gene therapy onasemnogene abeparvovec |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.890860/full |
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