(S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy
The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this context, newborn screening (NBS) is increasingly...
| Main Authors: | , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
AIP Publishing
2019
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| _version_ | 1797055502066122752 |
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| author | Boemer, F Caberg, JH Dideberg, V Beckers, P Marie, S Marcelis, L Bours, V Dangouloff, T Servais, L |
| author_facet | Boemer, F Caberg, JH Dideberg, V Beckers, P Marie, S Marcelis, L Bours, V Dangouloff, T Servais, L |
| author_sort | Boemer, F |
| collection | OXFORD |
| description | The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this context, newborn screening (NBS) is increasingly considered as the next step in several countries or regions. In 2018, we initiated a pilot study for NBS of SMA in French- and German-speaking Belgium. We aim to evaluate the feasibility, the efficacy, and the cost-effectiveness of such a program. Initially covering the region of Liege, the program was recently extended to the whole Southern Belgium and currently covers about 55.000 newborns per year. On June 1st 2019, 35.000 newborns had been screened and 5 affected babies were identified and referred to neuromuscular centers for early treatment. A full evaluation of the program will take place after three years to consider the inclusion of SMA screening in the publically-funded NBS program in Southern Belgium. |
| first_indexed | 2024-03-06T19:11:35Z |
| format | Journal article |
| id | oxford-uuid:16f5376f-4399-4a9b-aeb5-04ec615ccb86 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:11:35Z |
| publishDate | 2019 |
| publisher | AIP Publishing |
| record_format | dspace |
| spelling | oxford-uuid:16f5376f-4399-4a9b-aeb5-04ec615ccb862022-03-26T10:34:19Z(S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophyJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:16f5376f-4399-4a9b-aeb5-04ec615ccb86EnglishSymplectic ElementsAIP Publishing2019Boemer, FCaberg, JHDideberg, VBeckers, PMarie, SMarcelis, LBours, VDangouloff, TServais, LThe treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this context, newborn screening (NBS) is increasingly considered as the next step in several countries or regions. In 2018, we initiated a pilot study for NBS of SMA in French- and German-speaking Belgium. We aim to evaluate the feasibility, the efficacy, and the cost-effectiveness of such a program. Initially covering the region of Liege, the program was recently extended to the whole Southern Belgium and currently covers about 55.000 newborns per year. On June 1st 2019, 35.000 newborns had been screened and 5 affected babies were identified and referred to neuromuscular centers for early treatment. A full evaluation of the program will take place after three years to consider the inclusion of SMA screening in the publically-funded NBS program in Southern Belgium. |
| spellingShingle | Boemer, F Caberg, JH Dideberg, V Beckers, P Marie, S Marcelis, L Bours, V Dangouloff, T Servais, L (S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy |
| title | (S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy |
| title_full | (S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy |
| title_fullStr | (S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy |
| title_full_unstemmed | (S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy |
| title_short | (S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy |
| title_sort | s un m ay a rise on sma the hope of a region without spinal muscular atrophy |
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