{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T03:41:35Z","timestamp":1778211695376,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2018,4,16]],"date-time":"2018-04-16T00:00:00Z","timestamp":1523836800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2018,5,29]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Prior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We conducted a prospective, longitudinal data collection of patients treated with nusinersen within the EAP in seven neuromuscular centers in Germany. Standardized assessments including CHOP-INTEND and HINE-2 motor milestones were performed at baseline and 60 and 180 days after start of treatment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Data from 61 SMA type 1 patients (mean age 21.08 months, range 1\u201393) were available for analysis. After six months of treatment, 47 children (77.0%) improved by \u22654 points in CHOP INTEND score. Mean change in CHOP INTEND score was 9.0\u00b18.0 points. Nineteen patients (31.1%) improved by \u22652 points in HINE-2 motor milestones. Regression analysis revealed age at onset of treatment as major determinant of change in CHOP INTEND from baseline.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>When analyzing a broad spectrum of SMA type 1 patients, many children showed an improvement of motor function after six months of treatment with nusinersen, which is generally not expected within the natural course of the disease. Long-term observation and follow-up of patients with later onset types of SMA are crucial to understand the clinical impact of treatment with nusinersen.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-180315","type":"journal-article","created":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T11:55:54Z","timestamp":1523966154000},"page":"135-143","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":118,"title":["Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany"],"prefix":"10.1177","volume":"5","author":[{"given":"Astrid","family":"Pechmann","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thorsten","family":"Langer","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Schorling","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Stein","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibylle","family":"Vogt","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Children\u2019s Hospital 1, University of Duisburg-Essen, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Children\u2019s Hospital 1, University of Duisburg-Essen, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, University Children\u2019s Hospital Muenster, Muenster, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[{"name":"Departement of Child Neurology, University Hospital Giessen, Justus-Liebig-University, Giessen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Giese","sequence":"additional","affiliation":[{"name":"Departement of Child Neurology, University Hospital Giessen, Justus-Liebig-University, Giessen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessika","family":"Johannsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neuropediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonas","family":"Denecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neuropediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Wei\u00df","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Theophil","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, 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