• 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 prevents an early death or a life with a severe disability.
• As some European countries take the lead, the Alliance calls that by 2025, all children born in Europe are screened for SMA at birth and are able to access immediate treatment.
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 titled 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 for the patient’s life, resulting in severe lifelong disability.
Available causative therapies are able to 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 while treating after the onset of symptoms will always mean 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 as well as to 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 inequality in access to the best possible standard of care and has severe implications for the child’s survival, health, and 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!’”
The Alliance members agree that policy decisions on newborn screening should be taken with the ultimate goal to benefit 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 building more resilient healthcare systems, as unnecessary costs linked to the 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.
For any questions, please contact the press office at [email protected] or +34 653 700 739.
Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disease, impacting around 600 children in Europe every year. SMA leads to progressive muscle weakness, paralysis, and when left untreated, permanent ventilation and early death. Despite the recent development of acceptable treatments and reliable methods for screening, significant discrepancies remain in terms of patient access to NBS for SMA across Europe, leading to health inequalities and avoidable costs for healthcare systems.
About the SMA NBS Alliance
In order to advocate for newborn screening for SMA in Europe, SMA Europe founded this Alliance to bring together all stakeholders who share this vision and are willing to work together towards making it a reality. The founding members of this Alliance include our 19 member national SMA patient organisations, EURORDIS, TREAT-NMD and the pharmaceutical companies Novartis Gene Therapies, Biogen and Roche, 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 NBS 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 better outcomes