Approval of Nusinersen by SMA

Spinal muscular atrophy is a monogenetic disease with a mutation in the SMN gene. The FDA has approved the drug Spinraza ® (Nusinersen) for the treatment of all forms of SMA in the USA. On June 1st, 2017, the EMA (European Medicines Agency) granted approval for all forms of 5q-associated spinal muscular atrophy.
This is a gene therapy in which the SMN2 gene is modified in such a way that it functions like an SMN1 gene, thereby significantly increasing or almost normalizing the activity of this gene or protein. Clinical studies have shown a clear slowdown in disease progression and an increase in survival in SMA1 children.
The treatment requires injection of the drug into the spinal canal, which is given in a loading phase every 14 days. In the course, the intervals can be stretched further.
The Rostock University Medical Center and in particular the Clinic and Polyclinic for Neurology have been successfully treating adult SMA patients with the new therapy right from the start, and are one of the most experienced German-speaking centers for this.


DGM recommendation 23.10.2017:

Treatment indication adults
All patients with a molecular genetically confirmed SMA 5q should be treated if they wish to receive treatment and after thorough medical advice, provided there are no medical contraindications. A lumbar puncture must be possible since Spinraza® is only approved for intrathecal use by lumbar puncture.


GBA assessment 21.12.2017:

After reviewing the data, a "significant additional benefit" was identified for infants with early-onset SMA (type I). These patients usually show their first symptoms by the sixth month of life. For young children, who usually show their first symptoms before the age of two (type II), the benefit is "considerable" and "non-quantifiable" for later-onset SMA (type III and IV). Irrespective of the benefit assessment, Nusinersen can be prescribed for all patients with 5q-SMA.