Gene therapy for spinal muscular atrophy: the Qatari experience
<p dir="ltr">Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy medicine, FDA-approved in May 2019 for the treatment of SMA....
محفوظ في:
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| مؤلفون آخرون: | , , , , , , , , , , , , , , , , , |
| منشور في: |
2021
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إضافة وسم
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| _version_ | 1864513555891486720 |
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| author | Hossamaldein Gaber Ali (14152632) |
| author2 | Khalid Ibrahim (3853360) Mahmoud Fawzi Elsaid (14152635) Reem Babiker Mohamed (14152638) Mahmoud I. A. Abeidah (14152641) Azhar Othman Al Rawwas (14152644) Khaled Elshafey (14152647) Hajer Almulla (14152650) Karen El-Akouri (14152653) Mariam Almulla (14152656) Amna Othman (14152659) Sara Musa (14152662) Fatma Al-Mesaifri (14152665) Rehab Ali (14152668) Noora Shahbeck (14152671) Mariam Al-Mureikhi (7317614) Reem Alsulaiman (14152674) Saad Alkaabi (14152677) Tawfeg Ben-Omran (6663634) |
| author2_role | author author author author author author author author author author author author author author author author author author |
| author_facet | Hossamaldein Gaber Ali (14152632) Khalid Ibrahim (3853360) Mahmoud Fawzi Elsaid (14152635) Reem Babiker Mohamed (14152638) Mahmoud I. A. Abeidah (14152641) Azhar Othman Al Rawwas (14152644) Khaled Elshafey (14152647) Hajer Almulla (14152650) Karen El-Akouri (14152653) Mariam Almulla (14152656) Amna Othman (14152659) Sara Musa (14152662) Fatma Al-Mesaifri (14152665) Rehab Ali (14152668) Noora Shahbeck (14152671) Mariam Al-Mureikhi (7317614) Reem Alsulaiman (14152674) Saad Alkaabi (14152677) Tawfeg Ben-Omran (6663634) |
| author_role | author |
| dc.creator.none.fl_str_mv | Hossamaldein Gaber Ali (14152632) Khalid Ibrahim (3853360) Mahmoud Fawzi Elsaid (14152635) Reem Babiker Mohamed (14152638) Mahmoud I. A. Abeidah (14152641) Azhar Othman Al Rawwas (14152644) Khaled Elshafey (14152647) Hajer Almulla (14152650) Karen El-Akouri (14152653) Mariam Almulla (14152656) Amna Othman (14152659) Sara Musa (14152662) Fatma Al-Mesaifri (14152665) Rehab Ali (14152668) Noora Shahbeck (14152671) Mariam Al-Mureikhi (7317614) Reem Alsulaiman (14152674) Saad Alkaabi (14152677) Tawfeg Ben-Omran (6663634) |
| dc.date.none.fl_str_mv | 2021-07-19T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1038/s41434-021-00273-7 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Gene_therapy_for_spinal_muscular_atrophy_the_Qatari_experience/21598068 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences Chemical sciences Medicinal and biomolecular chemistry Gene therapy Neurological disorders |
| dc.title.none.fl_str_mv | Gene therapy for spinal muscular atrophy: the Qatari experience |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy medicine, FDA-approved in May 2019 for the treatment of SMA. This study aimed to describe Qatari experience with onasemnogene abeparvovec by reviewing the clinical outcomes of 9 SMA children (7 SMA type 1 and 2 with SMA type 2) aged 4‒23 months treated between November 2019 and July 2020. Children <2 years with 5q SMA with a bi-allelic mutation in the SMN1 gene were eligible for gene therapy. Liver function (aspartate aminotransferase [AST], alanine aminotransferase [ALT], and total bilirubin), platelet count, coagulation profile, troponin-I levels, and motor scores (Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders [CHOP INTEND]), were regularly monitored following gene therapy. All patients experienced elevated AST or ALT, two experienced high prothrombin time, and one experienced elevated bilirubin; all of these patients were asymptomatic. Furthermore, one event of vomiting after infusion was reported in one patient. Significant improvements in CHOP INTEND scores were observed following therapy. This study describes the short-term outcomes and safety of onasemnogene abeparvovec, which is well tolerated and shows promise for early efficacy.</p><h2>Other Information</h2><p dir="ltr">Published in: Gene Therapy<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1038/s41434-021-00273-7" target="_blank">http://dx.doi.org/10.1038/s41434-021-00273-7</a></p><p dir="ltr">Additional institutions affiliated with: National Center for Rare Disease in Qatar - HMC</p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_d0f56edc3a2965e724e39f761945766a |
| identifier_str_mv | 10.1038/s41434-021-00273-7 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/21598068 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Gene therapy for spinal muscular atrophy: the Qatari experienceHossamaldein Gaber Ali (14152632)Khalid Ibrahim (3853360)Mahmoud Fawzi Elsaid (14152635)Reem Babiker Mohamed (14152638)Mahmoud I. A. Abeidah (14152641)Azhar Othman Al Rawwas (14152644)Khaled Elshafey (14152647)Hajer Almulla (14152650)Karen El-Akouri (14152653)Mariam Almulla (14152656)Amna Othman (14152659)Sara Musa (14152662)Fatma Al-Mesaifri (14152665)Rehab Ali (14152668)Noora Shahbeck (14152671)Mariam Al-Mureikhi (7317614)Reem Alsulaiman (14152674)Saad Alkaabi (14152677)Tawfeg Ben-Omran (6663634)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesNeurosciencesChemical sciencesMedicinal and biomolecular chemistryGene therapyNeurological disorders<p dir="ltr">Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy medicine, FDA-approved in May 2019 for the treatment of SMA. This study aimed to describe Qatari experience with onasemnogene abeparvovec by reviewing the clinical outcomes of 9 SMA children (7 SMA type 1 and 2 with SMA type 2) aged 4‒23 months treated between November 2019 and July 2020. Children <2 years with 5q SMA with a bi-allelic mutation in the SMN1 gene were eligible for gene therapy. Liver function (aspartate aminotransferase [AST], alanine aminotransferase [ALT], and total bilirubin), platelet count, coagulation profile, troponin-I levels, and motor scores (Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders [CHOP INTEND]), were regularly monitored following gene therapy. All patients experienced elevated AST or ALT, two experienced high prothrombin time, and one experienced elevated bilirubin; all of these patients were asymptomatic. Furthermore, one event of vomiting after infusion was reported in one patient. Significant improvements in CHOP INTEND scores were observed following therapy. This study describes the short-term outcomes and safety of onasemnogene abeparvovec, which is well tolerated and shows promise for early efficacy.</p><h2>Other Information</h2><p dir="ltr">Published in: Gene Therapy<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1038/s41434-021-00273-7" target="_blank">http://dx.doi.org/10.1038/s41434-021-00273-7</a></p><p dir="ltr">Additional institutions affiliated with: National Center for Rare Disease in Qatar - HMC</p>2021-07-19T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1038/s41434-021-00273-7https://figshare.com/articles/journal_contribution/Gene_therapy_for_spinal_muscular_atrophy_the_Qatari_experience/21598068CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/215980682021-07-19T06:00:00Z |
| spellingShingle | Gene therapy for spinal muscular atrophy: the Qatari experience Hossamaldein Gaber Ali (14152632) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences Chemical sciences Medicinal and biomolecular chemistry Gene therapy Neurological disorders |
| status_str | publishedVersion |
| title | Gene therapy for spinal muscular atrophy: the Qatari experience |
| title_full | Gene therapy for spinal muscular atrophy: the Qatari experience |
| title_fullStr | Gene therapy for spinal muscular atrophy: the Qatari experience |
| title_full_unstemmed | Gene therapy for spinal muscular atrophy: the Qatari experience |
| title_short | Gene therapy for spinal muscular atrophy: the Qatari experience |
| title_sort | Gene therapy for spinal muscular atrophy: the Qatari experience |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences Chemical sciences Medicinal and biomolecular chemistry Gene therapy Neurological disorders |