## [Newborn Screening for Spinal Muscular Atrophy (SMA)](/diseases/spinal-muscular-atrophy-sma/newborn-screening-spinal-muscular-atrophy-sma "Newborn Screening for Spinal Muscular Atrophy (SMA)") In its most severe forms, spinal muscular atrophy (SMA) can progress rapidly. But the early signs can sometimes be subtle, and may even go unseen for weeks or months as the disease progresses. Early diagnosis of SMA through newborn screening (NBS) can help detect the disease before symptoms appear, potentially transforming the lives of patients and their families. Novartis Gene Therapies recognizes the urgent need to “screen the unseen” and partner with key stakeholders across the globe to ensure that every baby, worldwide, can be screened at birth. var kPlayer = KalturaPlayer_55802022 || KalturaPlayer; var config = { targetId: "kaltura_player_6a8efcfc30293512437404", provider: { widgetId: "1_55ccywbt", partnerId: "2076321", uiConfId: "55802022" }, playback: { autoplay: false, autopause: false, muted: false, loop: false }, sources: { options: {}, startTime: 0 }, disableUserCache: "true", plugins: {}, sources: { options: {}, startTime: 0 }, ui: { showCCButton: false, settings: { showQualityMenu: true, showSpeedMenu: false }, components: { fullscreen: { disableDoubleClick: false } }, uiComponents: [ { presets: ['Playback', 'Live'], area: 'BottomBarRightControls', replaceComponent: 'Fullscreen', get: kPlayer.ui.components.Remove } ] } }; // Check and add plugins only if they exist if (kPlayer.plugins["download"]) { config.plugins.download = { disable: true }; } if (kPlayer.plugins["transcript"]) { config.plugins["playkit-js-transcript"] = { position: "right", // Default: bottom;('left', 'right', 'top', 'bottom') to enable transcript. expandMode: "over", // Default: alongside;('alongside', 'hidden', 'over') expandOnFirstPlay: false, showTime: true, downloadDisabled: false, printDisabled: false, disable: true }; } if (kPlayer.plugins["preventSeek"]) { config.plugins.preventSeek = { preventSeekForward: false, preventSeek: false }; } config.plugins.floating = { disable: true }; if (kPlayer.plugins["navigation"]) { config.plugins.navigation = { position: "right", expandMode: "over", expandOnFirstPlay: false, visible: false }; } if (kPlayer.plugins["hotspots"]) { config.plugins['playkit-js-hotspots'] = { disable: true }; } if (kPlayer.plugins["moderation"]) { config.plugins['playkit-js-moderation'] = { disable: true }; } if (kPlayer.plugins["info"]) { config.plugins['playkit-js-info'] = { disable: true }; } if (kPlayer.plugins["share"]) { config.plugins.share = { disable: true }; } config.ui.uiComponents = []; if (kPlayer.plugins["googleAnalytics"]) { config.plugins.googleTagManager = {}; config.plugins.googleTagManager.customEventsTracking = {}; config.plugins.googleTagManager.containerId = 'GTM-57RJQ5'; config.plugins.googleTagManager.customEventsTracking.custom = []; config.plugins.googleTagManager.customEventsTracking = { preset: { coreEvents: true, UIEvents: false, playlistEvents: false, castEvents: false } }; } // Ensure the global player registry array always exists, regardless of embed type. window.kalturaPlayerVideos = window.kalturaPlayerVideos || []; try { var thumbEmbedPromise = __thumbnailEmbed({config, mediaInfo: {entryId: "1_pjb0p5lv"}}); // __thumbnailEmbed() returns a Promise that resolves with the player instance // when the user clicks the thumbnail. Use .then() to capture the player directly. thumbEmbedPromise .then(function(player) { window.kalturaPlayerVideos.push(player); // Notify kaltura_datalayer.js that a new player is ready so it can // attach custom event listeners immediately, regardless of when // the user clicked the thumbnail relative to page load. document.dispatchEvent(new CustomEvent('kalturaPlayerReady', { detail: { player: player } })); }) .catch(function(error) { console.error(error); }); } catch (e) { console.error(e.message) } ## What is newborn screening? ![Magnifying glass icon](/sites/novartis_com/files/styles/crop_freeform/public/2021-09/visual-metaphor-magnifying-glass-blue.png.webp?itok=6Rs37gW4 "Magnifying glass icon") The aim of NBS is to **detect treatable conditions in infants** that are not clinically evident during the newborn period, in order to intervene as early as possible.1 ![time icon](/sites/novartis_com/files/styles/crop_freeform/public/2023-07/everyday-time-icon-blue.png.webp?itok=1FQnQUYv "time icon") This is achieved by a simple blood test **24 to 48 hours** after the baby is born.1 ## Importance of newborn screening for SMA Diagnosing and treating SMA quickly is crucial to stopping progression of the disease, which robs infants of valuable motor neurons that allow them to walk, sit and even breathe.2,3,4 With SMA being one of the leading global genetic causes of infant death, it is crucially important to screen for this condition.2 var kPlayer = KalturaPlayer_55802022 || KalturaPlayer; var config = { targetId: "kaltura_player_6a8efcfc3945b362791201", provider: { widgetId: "1_pypehoc7", partnerId: "2076321", uiConfId: "55802022" }, playback: { autoplay: false, autopause: false, muted: false, loop: false }, sources: { options: {}, startTime: 0 }, disableUserCache: "true", plugins: {}, sources: { options: {}, startTime: 0 }, ui: { showCCButton: false, settings: { showQualityMenu: true, showSpeedMenu: false }, components: { fullscreen: { disableDoubleClick: false } }, uiComponents: [ { presets: ['Playback', 'Live'], area: 'BottomBarRightControls', replaceComponent: 'Fullscreen', get: kPlayer.ui.components.Remove } ] } }; // Check and add plugins only if they exist if (kPlayer.plugins["download"]) { config.plugins.download = { disable: true }; } if (kPlayer.plugins["transcript"]) { config.plugins["playkit-js-transcript"] = { position: "right", // Default: bottom;('left', 'right', 'top', 'bottom') to enable transcript. expandMode: "over", // Default: alongside;('alongside', 'hidden', 'over') expandOnFirstPlay: false, showTime: true, downloadDisabled: false, printDisabled: false, disable: true }; } if (kPlayer.plugins["preventSeek"]) { config.plugins.preventSeek = { preventSeekForward: false, preventSeek: false }; } config.plugins.floating = { disable: true }; if (kPlayer.plugins["navigation"]) { config.plugins.navigation = { position: "right", expandMode: "over", expandOnFirstPlay: false, visible: false }; } if (kPlayer.plugins["hotspots"]) { config.plugins['playkit-js-hotspots'] = { disable: true }; } if (kPlayer.plugins["moderation"]) { config.plugins['playkit-js-moderation'] = { disable: true }; } if (kPlayer.plugins["info"]) { config.plugins['playkit-js-info'] = { disable: true }; } if (kPlayer.plugins["share"]) { config.plugins.share = { disable: true }; } config.ui.uiComponents = []; if (kPlayer.plugins["googleAnalytics"]) { config.plugins.googleTagManager = {}; config.plugins.googleTagManager.customEventsTracking = {}; config.plugins.googleTagManager.containerId = 'GTM-57RJQ5'; config.plugins.googleTagManager.customEventsTracking.custom = []; config.plugins.googleTagManager.customEventsTracking = { preset: { coreEvents: true, UIEvents: false, playlistEvents: false, castEvents: false } }; } // Ensure the global player registry array always exists, regardless of embed type. window.kalturaPlayerVideos = window.kalturaPlayerVideos || []; try { var thumbEmbedPromise = __thumbnailEmbed({config, mediaInfo: {entryId: "1_91ug3cb4"}}); // __thumbnailEmbed() returns a Promise that resolves with the player instance // when the user clicks the thumbnail. Use .then() to capture the player directly. thumbEmbedPromise .then(function(player) { window.kalturaPlayerVideos.push(player); // Notify kaltura_datalayer.js that a new player is ready so it can // attach custom event listeners immediately, regardless of when // the user clicked the thumbnail relative to page load. document.dispatchEvent(new CustomEvent('kalturaPlayerReady', { detail: { player: player } })); }) .catch(function(error) { console.error(error); }); } catch (e) { console.error(e.message) } ## Advances in research and treatment options for SMA Advances in understanding and treating SMA have encouraged the SMA community to call for a renewed commitment to implement NBS on a global scale. These advances include: - Development of **life-saving interventions** - **Early treatment** having a major influence on outcomes - **Rapid developments** in R&D to identify other treatments5 - **Introduction of screening** in the US and other countries globally6 ### Snapshot of newborn screening efforts Here is an overview of newborn screening programs as of March 2023. - **North America**: the United States and Canada are screening for SMA. In 2018, SMA was added to the U.S. Recommended Uniformed Screening Panel (RUSP). Currently 48 of the 50 states screen for SMA.7 In Canada, the majority of provinces now screen for the disease at birth. - **Europe**: 45% of all newborn babies across Europe are now screened for SMA at birth. Novartis Gene Therapies continues to partner with governments and advocacy groups to increase the number of countries permanently screening.5, 8 - **Asia Pacific**: all countries but Myanmar and Laos have national newborn screening programs, however, they do not include SMA. Taiwan and Australia have extensive screening programs for SMA which cover 80% and 44% of newborns respectively.6 - **Middle East and North Africa**: newborn screening programs exist but they do not screen for SMA. Somalia and Sudan have no national NBS programs. Little information for newborn screening in Sub-Saharan Africa exists.9 - **Latin America**: the majority of countries in Latin America have national and/or regional newborn screening programs.10 ## Collaborating with industry and patient advocacy groups on newborn screenings for SMA ### Global Novartis Gene Therapies has worked with leading rare disease advocacy organizations on matters of policy and patient support. We gladly lend our resources and voice to activities that benefit families impacted by rare disease. [Learn More](/about/novartis-gene-therapies/resources-rare-disorders-patient-community "Resources for the Rare Disorders Patient Community") ### Europe In Europe, Novartis partners with SMA Europe, the umbrella organization for European patient organizations for SMA. SMA Europe launched the European Alliance for Newborn Screening in SMA this year, with the goal of including SMA in **all national newborn screening programs** by 2025. The alliance includes a broad range of organizations, academia and industry.11 [Learn More](https://www.sma-screening-alliance.org/) ## Related Links [About Novartis Gene Therapies](/about/novartis-gene-therapies/about-novartis-gene-therapies "About Novartis Gene Therapies") [Understanding Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy-sma "Understanding Spinal Muscular Atrophy") [Gene Therapy](/research-and-development/technology-platforms/gene-therapy "Gene Therapy") References: 1. Watson MS, et al. Ment Retard Dev Disabil Res Rev. 2006;12(4):230-235. 2. Kolb SJ, et al. Ann Neurol. 2017; 82: 883–91. 3. National Organization for Rare Disorders (2012). Spinal Muscular Atrophy: [http://rarediseases.org/rarediseases/spinal-muscular-atrophy](http://rarediseases.org/rarediseases/spinal-muscular-atrophy/). Last accessed March 9, 2023. 4. Kariyawasam, Didu S, et al. The Lanc Child & Adol Health. 2023. 5. Response to the UK National Screening Committee review of screening for SMA. SMA UK. Published September 9, 2018. Last accessed March 9, 2023. 6. Data on file. 7. Cure SMA. Newborn Screening for Spinal Muscular Atrophy. . Last accessed March 9, 2023. 8. Map – SMA Newborn Screening Alliance. (2023). [https://www.sma-screening-alliance.org/map](https://www.sma-screening-alliance.org/map/). Last accessed March 9, 2023. 9. Therrell BL, et al. Semin Perinatal. 2015;39(3):171-187. 10. Giugliani R, et al. Front. Genet. 2022;13: 3447. 11. European Alliance for Newborn Screening in Spinal Muscular Atrophy. Available at: [https://www.sma-screening-alliance.org](https://www.sma-screening-alliance.org/). Accessed March 9, 2023.