2024-04-22 11:48:27
International study with large participation from Austria. Much better treatment results. 50 percent more children go to learn.
One in 10,000 newborns suffers from spinal muscular atrophy (SMA). It is only recently that the disease can be treated with medication or gene therapy. An international study involving numerous Austrian clinics has now shown that the diagnosis immediately following birth is crucial. Around 50 percent more of the children affected go to learn.
“There is increasing evidence that early diagnosis and treatment are fundamental for the further development of young children with spinal muscular atrophy (SMA). Newborn screening programs have been established to detect the disease before symptoms appear. So far there have been “But there are still no controlled studies that prove the benefits of such programs,” wrote the international team of scientists with authors from almost 40 specialized clinics, primarily in Germany and Austria.
The study compared the development of children with SMA who were diagnosed as newborns or only when symptoms appeared – this is primarily a failure to develop healthy motor skills (sitting, walking). The cause of spinal muscular atrophy is a loss or mutation of the so-called SMN1 gene. This gene is the blueprint for the protein called “Survival of Motor Neuron” – SMN for short. SMN is crucial for the functioning of muscles. If the protein is produced too little or incorrectly, the nerve cells that control the muscles are increasingly damaged and lost. This causes increasing muscle weakness, muscle wasting and symptoms of paralysis.
Early diagnosis and subsequent therapy should prevent this as much as possible. There have been several effective ways to do this for several years. In 2017, the first drug therapy for spinal muscular atrophy became available. It improves a residual function in the production of the SMN protein. Since 2020, there has been a gene therapy that introduces a defect-free SMN1 gene into the body’s cells.
It was only these options that made newborn screening for SMA useful. In Austria, spinal muscular atrophy (SMA) and congenital immune deficiencies (SCID) have also been examined since June 2021 as part of a scientific project. For this purpose, just like screening for several dozen congenital metabolic diseases, all it takes is a single drop of blood from the newborn on a sheet of blotting paper.
The new scientific study on SMA screening analyzed the treatment results of 234 children with spinal muscular atrophy who were diagnosed with the disease between January 2018 and September 2021. These were babies with a genetically more severe course of the disease right from the start. The data came from 70 clinics. The observation period was at least 18 months in each case. In 44 children (18.8 percent) the hereditary strain was already diagnosed in newbornhood. In 190 children, this only happened when the first symptoms appeared (81.2 percent).
Accordingly, the start date differed with one of those therapies that can have a beneficial effect on the course of the disease. In newborn screening, treatment was started following an average of 1.3 months, in the comparison group (according to symptoms) only following 10.7 months.
The treatment results suggest that therapy should be started as early as possible following diagnosis as early as possible: 90.9 percent of the affected children learned how to sit independently, compared to only 74.2 percent otherwise. 63.3 percent of the children in the group in whom the disease was diagnosed immediately following birth learned to walk without other help, while only 14.7 percent of the children who were diagnosed following symptoms and started treatment later.
“The results regarding abilities and thus the response to treatment were significantly better in the group with newborn screening compared to the newborns without screening and with a diagnosis at the onset of symptoms,” wrote the scientists led by first author Oliver Schwartz (Münster University Hospital). in JAMA Pediatrics
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