{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T21:44:56Z","timestamp":1792878296320,"version":"4.5.0"},"reference-count":28,"publisher":"American Medical Association (AMA)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Pediatr"],"published-print":{"date-parts":[[2024,6,1]]},"abstract":"\n Importance<\/jats:title>\n There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that reliably confirm the benefits of newborn screening are lacking.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset.<\/jats:p>\n <\/jats:sec>\n \n Design, Setting, and Participants<\/jats:title>\n \n This nonrandomized controlled trial used data from the SMARTCARE registry to evaluate all children born between January 2018 and September 2021 with genetically confirmed SMA and up to 3\n SMN2<\/jats:italic>\n copies. The registry includes data from 70 participating centers in Germany, Austria, and Switzerland. Data analysis was performed in February 2023 so that all patients had a minimal follow-up of 18 months.\n <\/jats:p>\n <\/jats:sec>\n \n Exposure<\/jats:title>\n Patients born in 2 federal states in Germany underwent screening in a newborn screening pilot project. All other patients were diagnosed after clinical symptom onset. All patients received standard care within the same health care system.<\/jats:p>\n <\/jats:sec>\n \n Main Outcomes<\/jats:title>\n The primary end point was the achievement of motor milestones.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n A total of 234 children (123 [52.6%] female) were identified who met inclusion criteria and were included in the analysis: 44 (18.8%) in the newborn screening cohort and 190 children (81.2%) in the clinical symptom onset cohort. The mean (SD) age at start of treatment with 1 of the approved disease-modifying drugs was 1.3 (2.2) months in the newborn screening cohort and 10.7 (9.1) months in the clinical symptom onset cohort. In the newborn screening cohort, 40 of 44 children (90.9%) gained the ability to sit independently vs 141 of 190 (74.2%) in the clinical symptom onset cohort. For independent ambulation, the ratio was 28 of 40 (63.6%) vs 28 of 190 (14.7%).<\/jats:p>\n <\/jats:sec>\n \n Conclusions and Relevance<\/jats:title>\n This nonrandomized controlled trial demonstrated effectiveness of newborn screening for infants with SMA in the real-world setting. Functional outcomes and thus the response to treatment were significantly better in the newborn screening cohort compared to the unscreened clinical symptom onset group.<\/jats:p>\n <\/jats:sec>\n \n Trial Registration<\/jats:title>\n \n German Clinical Trials Register:\n DRKS00012699<\/jats:ext-link>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1001\/jamapediatrics.2024.0492","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T11:01:12Z","timestamp":1712574072000},"page":"540","source":"Crossref","is-referenced-by-count":78,"title":["Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy"],"prefix":"10.1001","volume":"178","author":[{"given":"Oliver","family":"Schwartz","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, M\u00fcnster University Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Developmental Medicine and Ludwig Maximilians University Center for Children with Medical Complexity, Dr. von Hauner Children\u2019s Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany"},{"name":"Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Pfaffenlehner","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany"},{"name":"Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Behrens","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany"},{"name":"Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Wei\u00df","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Center for Chronically Sick Children, Charit\u00e9, University Medicine Berlin, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessika","family":"Johannsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, 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