SMA Australia


Phone: (03) 9796 5744

Research and Future Directions

The last 10 years within the SMA community has seen research slowly develop. Over the past 5 years those emerging treatments have burst into the community with phenomenal results.

So, what is out there?

Spinraza (nusinersen) - BIOGEN

Spinraza is the first commercial treatment for SMA worldwide. In December 2016, this treatment was passed by the Food and Drug Administration (FDA) in America. Fast forward 18 months and the same treatment was passed by the Pharmaceutical Benefits Advisory Committee (PBAC) in Australia on the 1st of May 2018, after a concerted awareness campaign of our government bodies.

Although this treatment is currently only available for those under 19 with Type 1, 2 and 3a in Australia, we are continuing to campaign for those over 19 to gain access.

The treatment is delivered via a lumbar puncture (spinal injection), with 4 loading doses and then a maintenance dose every 4 months for the rest of their life. It works by increasing the production of SMN2 protein to increase motor function.

Zolgensma – AVEXIS

This revolutionary treatment is not a drug, but a ‘gene therapy’. There is one injection at birth essentially replacing the ‘missing’ gene with one that reads the DNA correctly. This ‘one time’ treatment delivered by IV at birth is changing the way we see SMA today. Still in clinical trials, it is showing phenomenal results, and is currently under review with the FDA in America.

Australia is currently part of these trials and are watching closely on the outcome of the FDA decision, to enable the application to the regulatory bodies here moving forward. We will keep everyone posted about its progress.

Risdiplam – ROCHE

The third treatment in the SMA community is a drug taken in an oral form. It is taken daily to increase more functional SMN protein to better support motor neurons and muscle function. The current clinical trials in America see a number of different cohorts that are looking at a range of type, ages and severity of the disease. Current clinical trials within Australia is focusing on newborn babies.

As the Australian patient organisation we are in direct contact with each pharmaceutical company, and when able, we will communicate directly to the community the intentions of access to treatment. Please contact us directly to discuss any aspect of these treatments, and we will be able to support you in your knowledge about access to these and other treatments. We also may be able to assist you in becoming involved with an appropriate clinical trial if one becomes available.

Wai and Steve WA researchers