Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective
Abstract Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases. Hence, it is important that clinicians gain knowledge and understanding in gene thera...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-11-01
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| Series: | Molecular and Cellular Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40348-023-00171-5 |
| _version_ | 1797559104601849856 |
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| author | Michelle A. Farrar Loudella Calotes-Castillo Ranil De Silva Peter Barclay Lani Attwood Julie Cini Monica Ferrie Didu S. Kariyawasam |
| author_facet | Michelle A. Farrar Loudella Calotes-Castillo Ranil De Silva Peter Barclay Lani Attwood Julie Cini Monica Ferrie Didu S. Kariyawasam |
| author_sort | Michelle A. Farrar |
| collection | DOAJ |
| description | Abstract Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases. Hence, it is important that clinicians gain knowledge and understanding in gene therapy-based treatment strategies for SMA. In this review, we describe the development and translation of onasemnogene abeparvovec from clinical trials to healthcare practice and share knowledge on the facilitators and barriers to implementation. Rapid and accurate SMA diagnosis, awareness, and education to safely deliver gene therapy to eligible patients and access to expertise in multidisciplinary management for neuromuscular disorders are crucial for health system readiness. Early engagement and intersectoral collaboration are required to surmount complex logistical processes and develop policy, governance, and accountability. The collection and utilisation of real-world evidence are also an important part of clinical stewardship, informing ongoing improvements to care delivery and access. Additionally, a research-enabled clinical ecosystem can expand scientific knowledge and discovery to optimise future therapies and magnify health impacts. Important ethical, equity, economic, and sustainability issues are evident, for which we must connect globally. |
| first_indexed | 2024-03-10T17:40:52Z |
| format | Article |
| id | doaj.art-7ff92684f8d54270a393e3593777febc |
| institution | Directory Open Access Journal |
| issn | 2194-7791 |
| language | English |
| last_indexed | 2024-03-10T17:40:52Z |
| publishDate | 2023-11-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Molecular and Cellular Pediatrics |
| spelling | doaj.art-7ff92684f8d54270a393e3593777febc2023-11-20T09:41:55ZengSpringerOpenMolecular and Cellular Pediatrics2194-77912023-11-0110111110.1186/s40348-023-00171-5Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspectiveMichelle A. Farrar0Loudella Calotes-Castillo1Ranil De Silva2Peter Barclay3Lani Attwood4Julie Cini5Monica Ferrie6Didu S. Kariyawasam7Department of Neurology, Sydney Children’s Hospital NetworkDivision of Paediatric Neurology, Department of Paediatrics and Neurosciences, University of the Philippines - Philippine General HospitalFaculty of Medical Sciences, Interdisciplinary Centre for Innovation in Biotechnology and Neuroscience (ICIBN), University of Sri JayewardenepuraPharmacy Department, Sydney Children’s Hospitals NetworkKids Advanced Therapeutics Programme, Sydney Children’s Hospitals Network, Kids ResearchAdvocacy Beyond BordersAdvocacy Beyond BordersDepartment of Neurology, Sydney Children’s Hospital NetworkAbstract Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases. Hence, it is important that clinicians gain knowledge and understanding in gene therapy-based treatment strategies for SMA. In this review, we describe the development and translation of onasemnogene abeparvovec from clinical trials to healthcare practice and share knowledge on the facilitators and barriers to implementation. Rapid and accurate SMA diagnosis, awareness, and education to safely deliver gene therapy to eligible patients and access to expertise in multidisciplinary management for neuromuscular disorders are crucial for health system readiness. Early engagement and intersectoral collaboration are required to surmount complex logistical processes and develop policy, governance, and accountability. The collection and utilisation of real-world evidence are also an important part of clinical stewardship, informing ongoing improvements to care delivery and access. Additionally, a research-enabled clinical ecosystem can expand scientific knowledge and discovery to optimise future therapies and magnify health impacts. Important ethical, equity, economic, and sustainability issues are evident, for which we must connect globally.https://doi.org/10.1186/s40348-023-00171-5Spinal muscular atrophyNewborn screeningGene therapyRare diseasesClinical translationImplementation |
| spellingShingle | Michelle A. Farrar Loudella Calotes-Castillo Ranil De Silva Peter Barclay Lani Attwood Julie Cini Monica Ferrie Didu S. Kariyawasam Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective Molecular and Cellular Pediatrics Spinal muscular atrophy Newborn screening Gene therapy Rare diseases Clinical translation Implementation |
| title | Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective |
| title_full | Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective |
| title_fullStr | Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective |
| title_full_unstemmed | Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective |
| title_short | Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective |
| title_sort | gene therapy based strategies for spinal muscular atrophy an asia pacific perspective |
| topic | Spinal muscular atrophy Newborn screening Gene therapy Rare diseases Clinical translation Implementation |
| url | https://doi.org/10.1186/s40348-023-00171-5 |
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