Every year, millions of newborn babies around the world have a few drops of blood taken from their heel to screen for a number of rare conditions. Carried out within a few days of birth, the screening is designed to identify conditions for which a clinical diagnosis may not be possible at such an early stage, but where early detection and treatment can save lives and potentially prevent symptoms of disease from developing.
However, despite spinal muscular atrophy (SMA) meeting the World Health Organization's criteria for inclusion in newborn screening programmes, in many countries across Europe this is still not the case. Without screening for SMA at birth, the chance of early diagnosis is missed and the potential to introduce the best possible medical care with the aim of preventing the disease is lost.
In the US, around 85% of newborns are already screened for SMA. Following the publication of the whitepaper and the Europe-wide initiative, progress is being made in many European countries to adopt the recommended SMA screening.
SMA screening has been approved in six European countries including The Netherlands, Belgium, Poland, Slovenia, Norway and Germany. In Norway and Germany, all newborns are screened for SMA. Newborn screening is now approved in Poland and is undergoing staggered implementation across provinces, and in the other three countries, they are pending implementation of screening.
Finland, Sweden and Denmark are all awaiting feedback from submitted applications for national programs. The United Kingdom, Spain, Italy, Austria, Czech Republic and the Russian Federation have active, ongoing pilots for SMA screening.
The ongoing pilot trials in Europe continue to support clinical trial results, showing that pre-symptomatic treatment results in age-appropriate motor development, with all children who went on to receive SMA-targeting treatment before clinical symptoms became apparent showing near-normal development.
As well as advocating at the European level, Alliance members are organising activities in their respective countries to request that health regulators evaluate adding SMA to newborn screening programmes. Applications have now been submitted to regulators in Austria, Denmark, Finland and Sweden and further pilot studies are either underway or being planned in a number of other countries. You can use
The importance and progress of the European Alliance for Newborn Screening in SMA has been recognised and has received the
As a founding member of the Alliance, which also includes European patient organisations, academics and other members of the pharmaceutical industry, Roche is proud to be part of this committed group helping to advocate for the needs of the SMA community.