Oral Drug for Spinal Muscular Atrophy Performs Well In Clinical Trial


Data for the clinical trials of an oral drug for treating spinal muscular atrophy (SMA) was recently presented by Genentech.

Part 1 of the clinical trial, dubbed FIREFISH, is a dose-escalation trial in 21 infants with Type 1 SMA. SMA is a genetic disorder characterized by progressive weakening of skeletal muscles, and results from loss of motor neurons that regulate muscle movement. The disease is rare and has a possibility of occurring once in every 10,000 births. Furthermore, type 1 SMA is fatal and results in death by the age of two.

In Part 1 of FIREFISH, infants were administered a dose that served to establish the effectiveness of the second part of the trial. 7 babies were able to sit upright on their own for a duration of 5 seconds, 11 were able to sit with or without support, and 9 of them were able to hold their head upright after 12 months of treatment. Moreover, one infant was able to stand by the end of the 12-month long treatment.

Giovanni Baranello, the FIREFISH study lead investigator from the Carlo Besta Neurological Research Institute Foundation in Milan, Italy says, “The continued improvements in motor milestones and function in the FIREFISH study to date are meaningful for this typical SMA Type 1 population where the majority of babies started treatment at nearly seven months old. These encouraging findings further validate a treatment approach that increases survival motor neuron protein in both the central nervous system and throughout the body.”

Currently, Biogen’s Spinraza (nusinersen) is the only drug available in the market for all types of SMA (0 to 5). Genentech’s chief medical officer, Sandra Horning concluded, “We are highly encouraged by our latest findings for risdiplam, which takes us one step closer to potentially bringing the first oral treatment option to the SMA community. While SMA has seen important advances over the past few years, significant medical need remains for people living with all types of SMA across multiple age groups.”


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Aira Goldsmith is a graduate of Parsons School of Design. She’s based in NYC but travels much of the year. Aira has written for Buzz Feed, Motherboard, The Financial Post, and the Huffington Post. Aira is a business reporter, focusing on technology and markets.