My patient with SMA type 2 rushed into my OPD very excited that his child was going to receive Risdiplam free as part of a clinical trial. "How safe is it ? Is it effective?"he was bombarding me with questions.
So that night I sat down to read about it, so I could give him a more educated answer.
The FDA approved Risdiplam (Everysdi by Roche) in August 2020 for use in adults and children above 2 months with SMA.
The most exciting fact is that it is given orally unlike Nusirensin which has to be given intrathecally.
The approval is based on 2 clinical studies.
The first trial was FIREFISH done on symptomatic infants between 2- 7 months. 41% ( 7/17 babies learnt to sit and 90% were alive without ventilation at 12 months.
In the other trial SUNFISH which was a placebo controlled trial in patients between 2-25 years there was a statistically significant improvement in motor function.
How does it work? Normally the SMN2 is spliced such that in 85% exon 7 is excluded resulting in a small and easily degradable protein. Risdiplam promoted splicing in SMN2 to allow inclusion of exon 7, resulting in a functional protein. This is able to fill the deficiency of SMN1 protein.
Fever, diarrhoea, rashes and oral ulcers are some minor adverse events documented so far.
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