Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness. The disease affects 1 in 11,000 live births and before the era of treatment SMA was...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-10-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2021.726468/full |
| _version_ | 1830351137784463360 |
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| author | Katarzyna Kotulska Aviva Fattal-Valevski Jana Haberlova |
| author_facet | Katarzyna Kotulska Aviva Fattal-Valevski Jana Haberlova |
| author_sort | Katarzyna Kotulska |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness. The disease affects 1 in 11,000 live births and before the era of treatment SMA was a leading genetic cause of mortality in infants. Recently, disease modifying therapies have been introduced in clinical practice. They include intrathecal and oral antisense oligonucleotides binding to pre-mRNA of SMN2 gene and increasing the translation of fully functional SMN protein as well as SMN1 gene replacement therapy. Onasemnogene abeparvovec uses the adeno-associated virus 9 (AAV9) vector to deliver the SMN1 gene. Phase 1 and phase 3 clinical trials showed that a single administration of onasemnogene abeparvovec resulted in improvement of motor functions in the majority of infants with SMA. Currently, phase 3 trials in SMA1 and SMA2 patients, as well as presymptomatic infants diagnosed with SMA, are ongoing. The drug was approved for medical use in the US in 2019, and in Japan and the European Union in 2020. Thus, first real-world data on efficacy and safety of onasemnogene abeparvovec in SMA patients are available. |
| first_indexed | 2024-12-20T00:32:50Z |
| format | Article |
| id | doaj.art-7bb19c3cbb2f409b9f9542b458093667 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-20T00:32:50Z |
| publishDate | 2021-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-7bb19c3cbb2f409b9f9542b4580936672022-12-21T19:59:52ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-10-011210.3389/fneur.2021.726468726468Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular AtrophyKatarzyna Kotulska0Aviva Fattal-Valevski1Jana Haberlova2Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, PolandPediatric Neurology Institute, “Dana-Dwek” Children Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, IsraelNeuromuscular Center, Department of Pediatric Neurology, Faculty Hospital Motol, 2nd School of Medicine Charles University, Prague, CzechiaSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness. The disease affects 1 in 11,000 live births and before the era of treatment SMA was a leading genetic cause of mortality in infants. Recently, disease modifying therapies have been introduced in clinical practice. They include intrathecal and oral antisense oligonucleotides binding to pre-mRNA of SMN2 gene and increasing the translation of fully functional SMN protein as well as SMN1 gene replacement therapy. Onasemnogene abeparvovec uses the adeno-associated virus 9 (AAV9) vector to deliver the SMN1 gene. Phase 1 and phase 3 clinical trials showed that a single administration of onasemnogene abeparvovec resulted in improvement of motor functions in the majority of infants with SMA. Currently, phase 3 trials in SMA1 and SMA2 patients, as well as presymptomatic infants diagnosed with SMA, are ongoing. The drug was approved for medical use in the US in 2019, and in Japan and the European Union in 2020. Thus, first real-world data on efficacy and safety of onasemnogene abeparvovec in SMA patients are available.https://www.frontiersin.org/articles/10.3389/fneur.2021.726468/fullspinal muscular atrophyspinal muscular atrophy treatmentonasemnogene abeparvovecgene therapyAAV9 |
| spellingShingle | Katarzyna Kotulska Aviva Fattal-Valevski Jana Haberlova Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy Frontiers in Neurology spinal muscular atrophy spinal muscular atrophy treatment onasemnogene abeparvovec gene therapy AAV9 |
| title | Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy |
| title_full | Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy |
| title_fullStr | Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy |
| title_full_unstemmed | Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy |
| title_short | Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy |
| title_sort | recombinant adeno associated virus serotype 9 gene therapy in spinal muscular atrophy |
| topic | spinal muscular atrophy spinal muscular atrophy treatment onasemnogene abeparvovec gene therapy AAV9 |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2021.726468/full |
| work_keys_str_mv | AT katarzynakotulska recombinantadenoassociatedvirusserotype9genetherapyinspinalmuscularatrophy AT avivafattalvalevski recombinantadenoassociatedvirusserotype9genetherapyinspinalmuscularatrophy AT janahaberlova recombinantadenoassociatedvirusserotype9genetherapyinspinalmuscularatrophy |