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Children with spinal muscular atrophy develop significantly better motor skills if treatment starts before the onset of symptoms / Study by the SMArtCARE network proves the importance of newborn screening

If children are diagnosed with spinal muscular atrophy (SMA) during newborn screening and treatment is started immediately, they show significantly better motor development than if they are diagnosed after the onset of symptoms. This is shown by a study by an international research team led by the Medical Center - University of Freiburg, which was published in JAMA Pediatrics on April 8, 2024. Itillustrates how crucial early diagnosis and treatment is for improving the quality of life of affected children.

SMA is a rare genetic disorder that affects muscle control. "The study confirms the benefits of newborn screening, which gives many affected children a chance to develop almost normally," explains Prof. Dr. Janbernd Kirschner, Medical Director of the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg.

The disease was detected in 44 children thanks to screening

Newborn screening for SMA has been tested in a pilot project in some regions of Germany since 2018. In the controlled study of the SMArtCARE registry, the 44 children who were identified through screening have now been compared with 190 children who were only diagnosed after the onset of symptoms in the same period. Children identified through newborn screening began drug treatment at an average of 1.3 months, compared to 10.7 months for children diagnosed after the onset of symptoms. Of the children diagnosed early, 90.9 percent learned to sit independently and 63.6 percent learned to walk, compared to 74.2 percent and 14.7 percent respectively in the group diagnosed later.

Since October 2021, a genetic test for SMA has been part of general newborn screening in Germany. In many other countries, however, there is still debate as to whether the effort and cost of testing all newborns is justified. The current study is the first to prove the benefits of newborn screening by comparing it with a parallel control group. "The results of our study clearly support the inclusion of SMA in newborn screening programs and highlight the importance of early detection for affected children," says Kirschner.

Spinal muscular atrophy: increasing muscle weakness leads to paralysis

Spinal muscular atrophy is a relatively common "rare disease": approximately one in 6-10,000 newborns is affected and around one in 45 people is a carrier of the disease. SMA leads to muscle weakness, especially in the muscles near the trunk and more in the legs than in the arms. Chewing and swallowing muscles as well as respiratory muscles can also be affected, which increases susceptibility to lung problems. Various drug therapies have been available for some years now, which significantly improve the course of the disease, especially if treatment is started early. While many patients used to die in the past, this is now the exception rather than the rule.

SMArtCARE Register

The SMArtCARE Register(www.smartcare.de) is a joint initiative of neurologists, neuropaediatricians and patient organizations in German-speaking countries. Data from the clinical routine of people with SMA is collected in a disease-specific registry. The aim of the data collection is to gather further data on the efficacy and safety of the various therapies. More than 70 clinics are currently participating in the initiative, which is led by the Medical Center - University of Freiburg. So far, over 20,000 visits from 1,900 participating patients have been collected.

Original title of the publication: Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy - A Nonrandomized Controlled Trial

DOI: 10.1001/jamapediatrics.2024.0492

Link to the study:https://jamanetwork.com/journals/jamapediatrics/fullarticle/2817302