Pre-screening for Spinal Muscular Atrophy could change lives
A team from Great Ormond Street Hospital (GOSH) and the UCL GOS Institute of Child Health (ICH) have shown how ‘blood spot’ testing new-borns could identify children who will go on to develop Spinal Muscular Atrophy, (SMA). The research was supported by the NIHR Great Ormond Street Biomedical Research Centre.
SMA is a life-limiting and potentially fatal condition that affects the motor neurons - the cells in the spinal cord - making muscles weaker and causing problems with movement, breathing and swallowing. When it develops in babies and toddlers, it can significantly reduce life expectancy. It is the most common fatal recessive genetic condition and in the UK in 2019, around 70 babies were born with SMA type 1, the most severe form.
Until recently, treatment was limited to support of the patient and family but in 2020, after GOSH was involved in highly-successful multi-centre clinical trial, Nusinursen (Spinraza) was licensed for use in the NHS for the first time.
Recent developments have seen a gene therapy called Zolgensma become available on the NHS for babies under one year old, but we know that treatment at the very earliest opportunity is crucial to stop this condition in its tracks.
Since early diagnosis and intervention is crucial for therapy to be effective, there has been considerable global interest in new-born screening (NBS) for SMA. Some countries worldwide have now adopted NBS for SMA nationally or, have embarked on pilot studies regionally, but the UK lags behind.
This new research, published in the International Journal of Neonatal Screening, shows how using the same dried ‘blood spot’ testing that is carried out in the UK for diseases like sickle cell disease and cystic fibrosis for new-borns can be used for SMA.
Children with the gene for SMA could then be identified before they start to show symptoms and potentially offered life changing treatment options.
Professor Francesco Muntoni, Paediatric Neurologist at GOSH and Director of the Dubowitz Neuromuscular Centre, at the UCL GOS ICH, who led the research with colleagues said: "There are dramatic differences in the outcome of children treated before they exhibit symptoms, compared to those treated when symptoms have already started.
"If we want to give affected children the best chance to live a life as independent as possible, for example giving them a good chance to walk, and to remain free from mechanical ventilation, the most useful strategy is to treat them at birth. Currently there are approved programs in Germany, Norway, The Netherlands, Slovenia; Turkey, Belgium, Ukraine, Austria, Check Republic, and extensive ongoing pilots in France, Italy, Spain and Australia. In the US, 70% of all new-borns are screened for SMA, so the argument is very solid.
"We are a multiparty group, working with advocacy groups and patients, to ensure we can get this delivered for patients as soon as possible".
You can read the story of how this research has changed the life of one young patient, on the GOSH website.