What is it?
Nusinersen, which is marketed as SpinrazaTM, is the first (and currently, the only) potentially available disease-modifying treatment for 5q SMA, which includes SMA Type 1, 2 3 and 4. It is an antisense oligonucleotide designed to modify the product of the SMN2 “backup” gene to produce more functional SMN protein. You can read more about how it works here and how the original scientists who worked on it have won the 2019 Breakthrough prize (the “Oscars for science”) here.
Clinical Trial Results
In collaboration with researchers, nusinersen was developed by Ionis Pharmaceuticals and Biogen Idec, which have run clinical trials with infants and children who have genetically-confirmed SMA Types 1, 2 or 3. There have not yet been any clinical trials of nusinersen with anyone with adult onset SMA Type 4.
In clinical trials, some individuals treated with nusinersen showed improvement, including:
- achieving physical milestones that they would not have reached without treatment
- maintaining physical milestones that they would not have done without treatment
- surviving longer than expected considering the typical course of their condition
Our Research Correspondents have tracked the clinical trial results as they have been released. You can read these updates here.
Access to this treatment
On 23rd December 2016, the US Food and Drug Administration (FDA) approved the use of nusinersen under its brand name SpinrazaTMfor both children and adults with SMA Types 1, 2 or 3 SMA.
On 1st June 2017, the European Commission released its report approving nusinersen for marketing under its brand name SpinrazaTM as a treatment for those with 5q spinal muscular atrophy. You can access the 117 page document European Medicines Agency (EMA) Assessment Report with the detailed science and further details of the various clinical trials that lie behind this decision here. Following this announcement, access in each country is decided by their regulatory authorities. You can find out what progress countries have made here.
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