Although there is currently no cure for SMA, this does not mean that nothing can be done. There are a range of options aimed at managing symptoms, reducing complications of muscle weakness and maintaining the best quality of life. These are outlined in the internationally agreed Standards of Care for SMA 1,2 .
Nusinersen / SpinrazaTM
The first (and currently, the only) potentially available drug treatment for SMA is called nusinersen. Essentially, the drug is designed to modify the product of the SMN2 gene to produce more functional SMN protein.
In collaboration with researchers, nusinersen was developed by Ionis Pharmaceuticals and Biogen Idec, which have run clinical trials with infants and children affected by SMA Types 1, 2 or 3. There have not yet been any clinical trials of nusinersen with anyone with SMA Type 4. On June 1st 2017, the European Commission (EC) approved nusinersen for marketing under its brand name SpinrazaTM as a treatment for those with 5q SMA. Following any EC marketing approval, it’s up to each country to decide who can be prescribed the drug.
Currently in the UK, nusinersen is only available in Scotland if the medical team and family agree that an infant with SMA Type 1 is eligible and may potentially benefit from the treatment.
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