SMA is an inherited, progressive neuromuscular disease that develops due to a mutation in the survival motor neuron 1 (SMN1) gene. The mutation leads to SMN protein deficiency.
Risdiplam is a survival motor neuron-2 (SMN-2) splicing modifier designed to rise and sustain SMN protein levels in the central nervous system and peripheral tissues.
The two-part FIREFISH study evaluated the safety and efficacy of the drug in infants aged one to seven months. Part one of the study tested the safety and established the dose for part two.
During part two, efficacy was assessed as the ability to sit without support following treatment for 12 months or longer. The efficacy was measured using the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development – Third Edition.
The second part met the primary goal of the proportion of infants sitting without support for a minimum of five seconds at 12 months. The safety of the drug was observed to be consistent with its known profile, without know new safety signals.
Roche chief medical officer and Global Product Development head Levi Garraway said: “This large, global trial confirms the efficacy of risdiplam in an advanced and difficult-to-treat population, including many infants whose disease had already progressed significantly before starting treatment.
“We are very encouraged by these results and we look forward to sharing them with regulators.”
Risdiplam’s clinical programme involves patients up to the age of 60. More than 400 participants have so far received the drug across all studies.
In November last year, the company reported positive results from the second part of the SUNFISH trial, which enrolled SMA type 2 or 3 patients aged two to 25 years.