Original Title: Update 12 Monate Nachbeobachtung: Nusinersen bei Spinaler Muskelatrophie („late onset“) bei Kindern und Jugendlichen ≥ 6 Jahre

Authors' objectives: In June 2017, Nusinersen (Spinraza®) was approved broadly by the European Medicines Agency (EMA) for the treatment of chromosome 5q13 (5q)-associated SMA - for all SMA typologies (despite the lack of evidence). It is currently the only disease-modifying (containment of disease progression) treatment approved in Europe. Another therapy for presymptomatic children has been approved in the USA (Zolgensma®, Onasemnogen abeparvovec), but not in Europe due to the lack of preclinical data. Further therapy developments for SMA 1-3 patients are taking place and will be approved in the next few years. The question of the update presented here is which scientific evidence from clinical intervention or observational studies for the medium (or long-term) benefit of Nusinersen (Spinraza®) in children and adolescents ≥ 6 years with SMA "late onset" (SMA 2 + 3) is available.

Authors' results and conclusions: Three publications on the question of the medium-term benefit (follow-up period ≥ 12 months) of Nusinersen (Spinraza®) in children and adolescents ≥ 6 years (SMA 2 + 3 with a total of 40 patients) were identified. The available evidence for medium-term (> 12 months) follow-up data comes from a single prospective sponsor-funded ISIS CS12 study, as well as from a small retrospective study (of poor quality). Moderate HFSME improvements beyond the thresholds of clinical relevance in SMA2 and hardly any improvements (stabilisation) in SMA 3 are reported. While the baseline data are reported in detail, there is no data-based - only narrative - reporting of the follow-up data. No information about the many patients who start the study, but are not reported, is given. Conclusion: Even after more than two years after the approval of Nusinersen, the evidence for this patient population is of extremely low quality, lacking validity.

Authors' methods: For this purpose, a hand search was carried out on March 17, 2020 in one database (Medline) restricted to the years 2018-2020 and to data on medium-term effects (≥ 12 months) in the patient groups children and adolescents ≥ 6 years with SMA "late onset" (SMA 2 + 3).

Project Status: Completed

URL for project: https://aihta.at/page/homepage/de

Year Published: 2020

URL for published report: http://eprints.aihta.at/1228/1/Policy_Brief_001.pdf

URL for additional information: http://eprints.aihta.at/1228/

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: Austria

Organisation Name: Austrian Institute for Health Technology Assessment

Contact Address: Garnisongasse 7/20, A-1090 Vienna, Austria

Contact Name: office@aihta.at

Contact Email: office@aihta.at