What is newborn screening?
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
With SMA as the leading global genetic cause of infant death, it is crucially important to screen for this condition.2
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 treatments4
- Introduction of screening in the US and other countries globally5
Snapshot of newborn screening efforts
Here is an overview of newborn screening programs as of December 2020.
- 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 47 of the 50 United States screen for SMA.7 In Canada, several provinces now screen for the disease at birth.
- Europe: 25% of all newborn lives 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.9,10,11,12
- Asia Pacific: all countries but Myanmar and Laos have national newborn screening programs, though none of these countries screen for SMA. In India, Bangladesh, Cambodia, Indonesia, Pakistan and Vietnam, screening covers less than 5% of newborns.13
- 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.13
- Latin America: all but four countries (Dominican Republic, El Salvador, Haiti and Honduras) have national and/or regional newborn screening programs.13
Collaborating with industry and patient advocacy groups on newborn screenings for SMA
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.
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 Spinal Muscular Atrophy this year, with the goal of including SMA in all national newborn screening programmes by 2025. The alliance includes a broad range of organizations, academia and industry.6