SMA Newsroom

• The European Alliance for Newborn Screening in Spinal Muscular Atrophy calls upon the government of Europe to include a test for spinal muscular atrophy in national newborn screening programmes.

• Worldwide newborn screening projects and programmes for SMA clearly demonstrate that early detection and treatment of SMA prevent an early death or a life with a severe disability.

• As some European countries take the lead, the Alliance calls for all children born in Europe to be screened for SMA, at birth, by 2025 and to be able to access treatment immediately.

 

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26 March 2021, Brussels, Belgium – The recently formed European Alliance for Newborn Screening for Spinal Muscular Atrophy, composed of European patient organisations, academics and the pharmaceutical industry, today published its first whitepaper, entitled "Spinal muscular atrophy: screen at birth, save lives", wherein it calls upon all European states to introduce routine screening of all newborns for spinal muscular atrophy (SMA) by 2025.

SMA is a rare genetic disease that leads to progressive muscle weakness, paralysis and if left untreated, respiratory failure and early death. Every year, it is diagnosed in around 1,000 children in Europe. Once SMA symptoms develop, they will persist throughout the patient’s life, resulting in severe lifelong disability.

Available causative therapies can entirely prevent the development of symptoms of SMA.

However, only routine newborn screening for SMA makes it possible to diagnose the disorder at its earliest stage and immediately introduce causative treatments that will prevent the disease. Screening at birth also permits to introduce the best standard of medical care, whilst parents and children no longer have to go through the pain of diagnosis when they learn about facing a life with severe disabilities.

Both the practice in the United States, where around 70% of newborns are already screened for SMA and a number of pilot screening projects conducted in Belgium, Italy and Germany, have confirmed the conclusion reached in several clinical trials – that treating SMA at the presymptomatic stage results in age-appropriate motor development, whilst treating after the onset of symptoms means a life with severe mobility impairments.

With this in mind, the Alliance hereby seeks to help foster the introduction of universal newborn screening for SMA in Europe and inform a systematic dialogue within European healthcare systems, with an involvement of healthcare experts, policymakers and patient advocates.

The Alliance calls on all European countries to ensure that by 2025, all children in Europe are tested at birth, for the genetic mutation that causes spinal muscular atrophy.

It is encouraging that some European countries have already made bold steps and have introduced, or are in the process of introducing, routine newborn screening for this severe disease. However, the vast majority of children born in Europe are still not tested at birth for SMA. This results in an inequality in access to the best possible standard of care and has severe implications for the child’s survival, health and the overall quality of life.

Marie-Christine Ouillade, the Chair of the Alliance’s Steering Committee, has stated: “In addition to living a long life with a child affected by severe disabilities, parents blame themselves for not having identified the disease earlier, in order to protect their child from developing severe symptoms of SMA. We will be pressing all national and European institutions to act on our call for SMA newborn screening, as preventing and treating SMA early on saves lives. This can no longer be delayed. Let’s all strive to ‘Screen at birth and save lives!’”

Alliance members agree that policy decisions on newborn screening should be taken with the ultimate goal of benefitting those who live with rare diseases, like spinal muscular atrophy, as well as their closest families. Newborn screening for SMA gives young patients and their families the confidence that they will be taken care of, treated and never left alone in managing their disease.

On the socio-economic level, newborn screening allows to build more resilient healthcare systems, as unnecessary costs linked to SMA and its complications are being avoided. Other important considerations in implementing newborn screening for SMA include minimising the risk of psychological harm to families and compliance with data protection policies.

Resources

• Download the Whitepaper entitled Newborn Screening for SMA: Screen at birth, save lives!
• Discover the status of newborn screening for SMA in your country!
• For any questions, please contact the press office at [email protected] or +34 653 700 739.

 

About SMA

Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disease that is diagnosed in around 1,000 children in Europe every year. SMA leads to progressive muscle weakness, paralysis, and if left untreated, respiratory failure and death usually before the age of two. Despite the availability of effective treatments and the existence of reliable, low-cost screening tests, significant discrepancies remain in terms of the availability of routine newborn screening for spinal muscular atrophy across Europe, which leads to significant health inequalities, suboptimal outcomes for patients, and avoidable costs for healthcare systems.

About the Alliance

In order to advocate for newborn screening for SMA in Europe, SMA Europe founded the Alliance to bring together all stakeholders who share the same vision and who are willing to work together towards making SMA newborn screening a reality. The founding members of this Alliance include our 19 member national SMA patient organisations, the European Reference Network EURO-NMD, the European Organisation for Rare Diseases EURORDIS, the TREAT-NMD Alliance, the European Alliance for Neuromuscular Disorders Associations EAMDA, and the pharmaceutical companies Biogen, Novartis Gene Therapies, and Roche. Additional members include the University of Groningen, Health-Ecore, LaCAR MDX Technologies and PerkinElmer. Secretariat support is provided by Admedicum Business for Patients. The Alliance’s main objectives are to decrease the time it takes for a child born with spinal muscular atrophy to be diagnosed through newborn screening and to assist patient advocacy groups in their efforts to accelerate the identification of such children, given that early diagnosis and treatment of spinal muscular atrophy leads to significantly better outcomes.