SMA Newborn Screening Alliance Wins EURORDIS Company Award for Patient Engagement
Brussels, 8 February 2022 – The European Alliance for Newborn Screening for Spinal Muscular Atrophy (Alliance) won the 2022 Black Pearl Award in the category: “EURORDIS Company Award for Patient Engagement”.
The Alliance is proud and honoured to receive this recognition for its work to promote the early implementation of newborn screening (NBS) for spinal muscular atrophy (SMA) throughout Europe. The Alliance’s aim is to have NBS for SMA as standard practice in all European countries by 2025. It is widely recognised that the new treatments developed by different pharma companies are highly effective if babies receive them as soon as possible after birth so having NBS for SMA should be a right for all newborns in Europe, not just a lucky few.
The SMA NBS Alliance was founded by SMA Europe in 2020 to reduce the time it takes for newborns in Europe to be diagnosed with SMA.
Chair of the Alliance Steering Committee, Marie-Christine Ouillade said, “Identifying children living with SMA when pre-symptomatic through NBS allows for treatment to be started on time, preventing motor neuron death and a life with severe disabilities. If not, the health care systems pay for permanent treatment and the social care systems pay for a lifelong disability.”
There is no more time to waste for babies born with SMA – The Alliance calls for newborn screening programmes for SMA in all European countries by 2025.
We need NBS for SMA now, it’s the only way to save lives and avoid permanent disability that impacts both the lives of children born with SMA and their families.
About SMA and NBS
SMA is a very severe monogenetic disease, and prior to treatments being available, half of the affected babies would die before reaching two years of age, with the others having severe motor disabilities. The disease gradually kills the motor neurons and day by day children loose motor function.
There is now hope of new innovative treatments that can stop the death of the motoneurons and stabilise motor function. Unfortunately, neuron regeneration is very slow and occurs only up to the age of 25 years, so patients who are diagnosed and treated only once symptoms present will now usually still live but will not recover completely and will have long life motor disabilities.
SMA is easy to diagnose in a blood drop test, and if babies are treated before the onset of damage, they have a good likelihood of normal development without any disabilities.
Country of birth is now a huge discriminator for children in Europe with the same genetic disease. Those some born for example in Belgium, in Germany, or in Poland can expect to live a normal life, and others born in France, or the UK will currently be condemned to lifelong disabilities.
In 2021, more than 6.9 million babies were born in Europe, 4 million in the European Union. Of these, at least 700 babies will develop the disease during their lifetimes and half of them will have a severe form, with symptoms before the age of 6 months. Less than 13% of this population was screened for SMA. With the support of all our stakeholders, the Alliance expects that in 2022, the percentage will reach just 20%.
About the SMA NBS Alliance
SMA Europe decided that multi-stakeholder collaboration would accelerate the implementation of NBS for SMA in national screening programmes once the efficiency of different treatments was proven in early 2020.
SMA Europe works to bring together a wide audience, with other patient organisations like EURORDIS or EAMDA (European Alliance for neuromuscular association), but also medical and scientific networks like EURO NMD (European reference network for neuromuscular diseases) and TREAT-NMD, academic research and university institutions like Groningen University and Health-Ecore from the Netherlands and IBIMA Institute in Malaga Spain.
In addition, the three pharma companies that have an approved treatment for SMA are partners in the Alliance, Biogen, Roche, and Novartis Gene Therapies, and some testing kit manufacturers like LaCAR MDX Technologies, PerkinElmer and ImmunoIVD. admedicum provides secretariat support for the Alliance.
To date, the Alliance has produced multiple tools to support national organisations to apply for NBS including a policy flyer, conference posters and presentations, videos, and a Whitepaper collecting scientific and technical evidence that is requested by national screening committees. The Alliance also offers webinars for member organisations to educate the different stakeholders about NBS for SMA.
All the information is available on the website, where there is also an up-to-date map tracking the progress towards NBS throughout all of Europe.