Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
Findings from a study published in the Journal of Neuromuscular Diseases demonstrate a positive effect of nusinersen treatment on motor function in ambulant pediatric and adult spinal muscular atrophy patients
A positive effect of nusinersen treatment on motor function in ambulant pediatric and adult spinal muscular atrophy (SMA) patients during a 38-month period has been demonstrated by an analysis of data from the SMArtCARE registry. Researchers not only observed a stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance in a subgroup of patients. The findings of the study have been published in the Journal of Neuromuscular Diseases.
SMArtCARE is a disease-specific registry with 58 participating centers in Germany, Austria and Switzerland. Data are collected as real-world data during routine patient visits. The study’s analysis included all patients being treated with nusinersen able to walk independently before the start of treatment, with a focus on changes in motor function.
Disease progression in patients with SMA has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there are still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients.
Commenting on the findings of the study, lead investigator PD Dr. Astrid Pechmann, MD, Department of Neuropediatrics and Muscle Disorders, Medical Center of the University of Freiburg, Faculty of Medicine, Freiburg, Germany, says: "Real-world data from different countries and disease registries indicate that nusinersen has the potential to positively influence disease progression in ambulant patients in the short-term follow-up. However, data on the long-term effect of nusinersen in ambulant patients are still scarce. Due to reimbursement policies, this led to limited access to treatment for adult or ambulant patients in different countries."
Data from 231 ambulant patients were included in the analysis. During the observation period, changes in walking distance were assessed via the 6-Minute-Walk-Test. The study showed that 31 pediatric walkers (27.2%) and 31 adult walkers (26.5%) experienced a clinically meaningful improvement. In contrast, only five adult walkers (7.7%) showed a decline in walking distance, and two pediatric walkers (1.8%) lost the ability to walk unassisted under treatment with nusinersen.
“Our results contribute to the increasing evidence on the positive long-term effect of nusinersen treatment in this patient population. This is necessary to develop treatment recommendations, but also to facilitate and guarantee access to treatment,” according to PD Dr. Pechmann.
With the leading symptom of a progressive muscle weakness and atrophy, SMA is a rare neuromuscular disorder with a broad clinical spectrum affecting patients of all ages. Disease severity is determined by different biomarkers and correlates inversely with the age at symptom onset. Patients developing the first symptoms of muscle weakness at an age older than 18 months are expected to have a milder phenotype of SMA type 3. These patients gain the ability to walk independently, but often lose ambulation as the disease progresses.
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NOTES FOR EDITORS
“Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study,” by Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Meike Steinbach, Astrid Blaschek, Matthias Baumann, Manuela Baumgartner, Benedikt Becker, Marina Flotats-Bastardas, Johannes Friese, Rene Günther, Andreas Hahn, Hanna Küpper, Jessika Johannsen, Christoph Kamm, Jan Christoph Koch, Cornelia Köhler, Heike Kölbel, Kirsten Kolzter, Arpad von Moers, Steffen Naegel, Christoph Neuwirth, Susanne Petri, Annekathrin Rödiger, Mareike Schimmel, Bertold Schrank, Gudrun Schreiber, Martin Smitka, Christian Stadler, Elisabeth Steiner, Eva Stögmann, Regina Trollmann, Matthias Türk, Markus Weiler, Corinna Stoltenburg, Ekkehard Willichowsky, Daniel Zeller, Andreas Ziegler, Hanns Lochmüller, and Janbernd Kirschnea, and SMArtCARE study group (https://doi.org/10.3233/JND-221600), Journal of Neuromuscular Diseases, Volume 10, issue 1. The article is openly available.
The study’s data collection and analysis were carried out by the academic SMArtCARE network, independent of its commercial partners.
The authors would like to thank all patients and families that agreed to share their data within the SMArtCARE registry. They further thank all participating centers in Germany, Austria, and Switzerland.
Copies of this paper are also available to credentialed journalists upon request. Please contact Diana Murray, IOS Press, at +1 718-640-5678 or email@example.com for the full text of the article or additional information. Journalists who wish to interview the authors should contact SMArtCARE at +49 761 270 43150 or firstname.lastname@example.org.
ABOUT THE JOURNAL OF NEUROMUSCULAR DISEASES (JND)
The Journal of Neuromuscular Diseases facilitates progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis, and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias, and myositis). The journal publishes research reports, reviews, and short communications. Guided by Editors-in-Chief Carsten G. Bönnemann (National Institute of Neurological Disorders and Stroke, NIH) and Hanns Lochmüller (Children’s Hospital of Eastern Ontario Research Institute), the journal is dedicated to providing an open forum for original research in basic science, translational, and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.
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