Last updated 19th January 2018.
What is it?
Nusinersen, which is marketed as SpinrazaTM, is the first (and currently, the only) potentially available disease-modifying treatment for SMA. Essentially, the drug 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.
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 Scientific Research Correspondent has tracked the clinical trial results as they have been released. You can read these updates here. Biogen presented the most recent findings from nusinersen clinical trials at the 22nd International Annual Congress of the World Muscle Society 3rd-7th October 2017. You can read these 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 approved nusinersen for marketing under its brand name SpinrazaTM as a treatment for those with 5q spinal muscular atrophy”. This is a broad term which refers to a mistake in a gene on the fifth chromosome in the chromosomal region labelled ‘q’ . It includes SMA Types 1, 2, 3 and 4. You can access the 117 page document European Medicines Agency (EMA) Assessment Report released on 1st June with the detailed science and further details of the various clinical trials that lie behind this decision here.
- The SMA Type 1 Expanded Access Programme
Currently, access to nusinersen in the UK is only available to children with SMA Type 1 through what is called a ‘compassionate use’ or Expanded Access Programme (EAP). This EAP requires that both the child's medical team and the child's parents/guardians have agreed that it will be of benefit and that the child is eligible for the treatment. You can read about the programme here.
- Wider UK Access
Nusinersen’s future availability in the UK will depend upon the outcome of reviews by regulatory authorities of the evidence gained from clinical trials in each subtype of SMA. These authorities also review the costs of provision and consider submissions from the patient community. The authorities include the National Institute for Health and Care Excellence (NICE), NHS England, the Scottish Medicines Consortium (SMC) and other authorities in the devolved nations. For the latest information on where these reviews have got to please go here
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