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Walter, Maggie C.; Draeger, Bianca; Guenther, Rene; Hermann, Andreas; Hagenacker, Tim; Kleinschnitz, Christoph; Loescher, Wolfgang; Meyer, Thomas; Schrank, Berthold; Schwersenz, Inge; Wurster, Claudia D.; Ludolph, Albert C. and Kirschner, Janbernd (2019): Therapieevaluation bei Patienten mit 5q-assoziierter spinaler Muskelatrophie. Erfahrungen aus der klinischen Praxis. In: Nervenarzt, Vol. 90, No. 4: pp. 343-351

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Spinal muscular atrophy (SMA) is aprogressive autosomal recessive neurodegenerative disease with an incidence of 1:10,000 live births. With a deeper understanding of the molecular basis of SMA in the past two decades, amajor focus of therapeutic development has been on increasing the proportion of functionally capable SMN protein by increasing the inclusion of exon7 in SMN2 transcripts, enhancing SMN2 gene expression, stabilizing the SMN protein or replacing the SMN1 gene. Since June 2017, the antisense oligonucleotide nusinersen/Spinraza (R) (Biogen GmbH, Ismaning, Germany) has been approved for 5qSMA treatment. Nusinersen modifies premessenger RNA splicing of exon7, leading to stable SMN protein expression and for the first time an effective disease-modifying treatment is available. In several controlled trials nusinersen showed afavorable benefit-risk profile along with clinically relevant improvements in motor function. The efficacy was most pronounced in presymptomatic patients, which underlines the necessity for anewborn screening program and is the key to start efficient treatment prior to motor neuron death. The repeated intrathecal administration of nusinersen is associated with practical challenges, in particular for patients with severe scoliosis or after spinal straightening surgery. As the vast majority of SMA patients were outside previous study populations regarding age and disease duration, experts complained about alack of data on efficacy and safety beyond childhood. To fill these gaps asystematic data collection has been initiated by the SMArtCARE initiative, aiming at collecting comprehensive data in the clinical routine, regardless of the patients' individual treatment regimen.

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