Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center.

Spinal muscular atrophy (SMA) is a rare neurodegenerative disease leading to progressive muscular atrophy, respiratory failure, and premature death. Secondary thorax and spine deformities are frequent. In July 2017, the antisense oligonucleotide nusinersen (Spinraza) was approved for the recurrent lifelong intrathecal treatment of SMA in Europe. Lumbar punctures are challenging especially in SMA patients with severe spine deformities and after spine surgery. In the light of alternative SMA therapies that are available or are expected to be available soon and which are administered orally or via one-time infusion, an appraisal of the established therapy is significant. Discussion about which therapy is the best for each individual patient will have to include not only the safety and efficacy of data but also the application form and its burden for the patient and the health care system. Therefore, we analyzed our 3-year experiences and challenges with 478 lumbar puncture procedures in 61 pediatric SMA patients with and without spine deformities or instrumentation.