Announcing the launch of the European Alliance for Newborn Screening for Spinal Muscular Atrophy (SMA NBS Alliance)
On 31 August 2020, the last day of SMA Awareness Month, SMA Europe is proud to announce the launch of a new European Alliance for Newborn Screening (NBS) in Spinal Muscular Atrophy (SMA).
Opening a new horizon for children born with SMA
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.
Early detection and diagnosis may mean the difference between life and death for an infant with a severe form of SMA.
In order to advocate for newborn screening for SMA in Europe, SMA Europe founded the 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 the 19 national SMA patient organisations that are part of SMA Europe, EURORDIS - Rare Diseases Europe, the European Alliance of Neuromuscular Disorders Associations, TREAT-NMD and the pharmaceutical companies AveXis, Biogen and Roche.
What will the EU Alliance for NBS for SMA plan to do?
The Alliance demands that by 2025, newborn screening programmes in Europe include a test for spinal muscular atrophy for all newborn children.
Alliance members will take part in a variety of activities including writing a Whitepaper on Newborn Screening for SMA that collects the scientific evidence supporting why SMA needs to be included in the national newborn screening programmes.
Additionally, Alliance members are organising activities in their respective countries to request that health regulators evaluate adding SMA to newborn screening panels.
About SMA
Spinal muscular atrophy (SMA) is a rare, progressive, neuromuscular disease which leads to immobility and results in a short life expectancy for many children diagnosed with the condition.
The incidence of SMA is approximately 1 in 8,000 people, depending on the country. Despite being a rare disease, left untreated, SMA is the leading genetic cause of death in infants and toddlers. SMA involves the loss of nerve cells called motor neurons that control muscles.
Once lost, motor neurons cannot be regenerated. 50-60% of children born with SMA can never sit up independently and without treatment, do not live beyond two years of age.
There is no cure for SMA but as of August 2020, there are two treatments approved in Europe that can preserve motor neurons. Being treated as early as possible is therefore a key issue for babies born with SMA and their families.
About newborn screening
Newborn screening (NBS) is the practice of testing all babies in their first days of life for certain disorders that are treatable, but difficult or impossible to detect clinically. This allows for the identification of patients before the first symptoms emerge.
National screening committees regularly review their recommendations on screening for different conditions in light of new research and evidence becoming available. We hope that with newly launched treatments, reviews will now take place and following new applications, revised guidance will be delivered across countries to include SMA.
Newborn screening allows to treat children with SMA, before motor neuron destruction, thus giving them a chance of a normal life. For more information, our position statement and our flyer, please visit our dedicated webpage.
Contact
- SMA Europe Coordinator: Vanessa Christie-Brown: [email protected]
- Alliance Secretariat – admedicum: Rob Pleticha: [email protected]