SMA NBS progress and status in 2022

• In 2020, only the Netherlands had validated its newborn screening policy to include SMA, though still had not implemented it. A few local pilots were ongoing in Belgium, Germany, and Italy.
• In 2022, the list of European countries actively screening nationwide as part of including SMA in the national screening program includes Belgium, Germany, Norway, and the Netherlands.
• In 2022, nationwide SMA newborn screening pilots are ongoing in Austria, the Czech Republic, Hungary, Portugal, and Poland. In most cases, these pilots are already planned to be included in the permanent national screening programs.
• Slovenia announces the start of its national program at the end of 2022.
• In 2022, regional pilots are ongoing in Denmark, Estonia, Latvia, Spain, Serbia, Ukraine, and the United Kingdom.
• In 2023, nationwide NBS for SMA as part of the national screening program is expected to start in Lithuania, Luxembourg, and Slovakia.
• In 2022, applications for SMA newborn screening were deposited with the national authorities in Sweden and Switzerland with decisions expected by 2023.
• Outside of Europe, nationwide SMA newborn screening started in Turkey on May 9, 2022, and regional pilots continue in the Russian Federation. In the United States 49 out of 50 states screen for SMA at birth which accounts for around 98% of newborn babies that are screened.

For sources on these updates, please visit and select the country: https://www.sma-screening-alliance.org/map/

As newborn screening for SMA is evolving quickly in 2022, if you have an update or correction, you can share it with the Alliance via the Secretariat at: [email protected]

 

SMA NBS Alliance Highlights 2022

• Receives EURORDIS Award for Patient Engagement https://blackpearl.eurordis.org/company-award-for-patient-engagement-2020-2/
• Joins Screen4Rare multi-stakeholder initiative to advocate for harmonized NBS policies https://www.sma-screening-alliance.org/sma-europe-joins-screen4rare/
• Hosts a webinar on SMA NBS Techniques with screening experts and company representatives https://www.youtube.com/watch?v=Jh0iJLL_7Hs
• The Alliance took part in over 17 events with posters, presentations, or abstracts including MYOLOGY 2022, TREAT-NMD Congress, Cure SMA Annual Conference, and the SMA Europe Scientific Congress.
• The Whitepaper was translated into Spanish, Portuguese, and Romanian: https://www.sma-screening-alliance.org/tools/
• A study on the Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands was published by the Alliance members from Health-Ecore and the University of Groningen. This study found SMA NBS was cost-effective for the health system in the Netherlands.  https://pubmed.ncbi.nlm.nih.gov/35963838/
• Charles River Associates, in close collaboration with SMA Europe, published a document about the role of patient organisations in NBS implementation https://www.sma-screening-alliance.org/wp-content/uploads/2022/12/CRA-LS-Insights-NBS-Policy.pdf
• Two important national meetings happened in Bucharest, Romania and Dublin, Ireland to support the initiatives to include SMA in the national NBS programmes in these countries

 

Ongoing SMA NBS Alliance activities

• Supporting national SMA organisations: Greece, N. Macedonia, and the Baltic countries
• Website: map information will be duplicated on the ODYSMA website beginning of 2023 
• ENMC meeting on SMN2 copy numbers has been approved by the ENMC board in December and is planned for March 2023. This event is led by Alliance Steering Committee member Dr. Eduardo Tizzano.
• An EU Policy event with the president of the EU Commission and some MEPs was quite challenging to organise in 2022 and is under discussion and being planned for 2023.

 

Welcome to the New Alliance Members in 2022

• IBIMA – Malaga Biomedical Research Institute and Nanomedicine Platform
• ScholarRock

Thank you to the Alliance Steering Committee Members for their time and commitment to SMA newborn screening!

• Marie-Christine-Ouillade, Kacper Rucinski, and Angela Smith-Morgan of SMA Europe
• Dr. Eduardo Tizzano, Vall d’Hebron University Hospital
• Gulcin Gumus (PhD), EURORDIS
• Jana Popova, EAMDA, European Patients’ Forum