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 sube by，worldwide，can be screened at birth。

What is newborn screening？

信号灯，信号灯

The aim of NBS is to可检测控制条件infantsthat are not clinically evident during the newborn period，in order to intervene as early as possible。1个

时间，时间

This is achieved by a simple blood test24 to 48 hoursafter the baby is born。1个

中小型企业的导入率

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

在中小型企业中提供的高级联机和调试操作

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:

  • 开发，开发life-saving interventions
  • Early treatmenthaving a major influence on outcomes
  • Rapid developmentsin R&D to identify other treatments5
  • 基础设施，基础设施in the US and other countries globally6个

新炉膛通风口

Here is an overview of newborn screening programs as of March 2023。

  • North America：the United States and Canada are screening for SMA。In2018，SMA was added to the U.S.Recommended Uniformed Screening Panel（RUSP）。Currently48 of the 50 states screen for SMA。7In 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 cover80%and44%of newborns respectively。6个
  • 混合燃料和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

中小型企业综合利用率

全局，全局

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。

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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 inall national newborn screening programsby2025.The alliance includes a broad range of organizations，academia and industry。11

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Related Links

About Novartis Gene Therapies
不受影响的电子束电流互感器
Gene Therapy

参考：

  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.Last accessed March92023。
  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 UKhttps://smauk.org.uk/files/files/Research/Our%20Response%20to%20National%20Screening%20Committee%20Review.pdfPublished September 91018。Last accessed March92023。
  6. Data on file。
  7. Cure SMA.Newborn Screening for Spinal Muscular Atrophyhttps://www.curesma.org/newborn-screening-for-sma/#implementation-status.Last accessed March92023。
  8. Map–SMA Newborn Screening Alliance.（2023）。https://www.sma-screening-alliance.org/map.Last accessed March92023。
  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.Accessed March92023。